Variant report

Variant	esv3357226
Chromosome Location	chr1:165795953-165798501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:165796863-165797423	K562	blood:	n/a	n/a
2	ARID3A	chr1:165796882-165797222	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:165798068-165798548	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:165797978-165798581	K562	blood:	n/a	n/a
5	ATF2	chr1:165797619-165797979	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr1:165797281-165797779	A549	lung:	n/a	chr1:165797580-165797600
7	BACH1	chr1:165797030-165797932	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr1:165796590-165796622	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:165797394-165797908	K562	blood:	n/a	n/a
10	BCL3	chr1:165797317-165798429	A549	lung:	n/a	chr1:165797592-165797605
11	BCL3	chr1:165797489-165798454	A549	lung:	n/a	chr1:165797592-165797605
12	BCL3	chr1:165797500-165797816	GM12878	blood:	n/a	chr1:165797592-165797605
13	BCLAF1	chr1:165796680-165798202	GM12878	blood:	n/a	chr1:165797056-165797065 chr1:165797282-165797291 chr1:165797043-165797056 chr1:165797229-165797242 chr1:165797232-165797245 chr1:165797230-165797243 chr1:165797290-165797303 chr1:165797592-165797605
14	BCLAF1	chr1:165796685-165797321	GM12878	blood:	n/a	chr1:165797056-165797065 chr1:165797282-165797291 chr1:165797043-165797056 chr1:165797229-165797242 chr1:165797232-165797245 chr1:165797230-165797243 chr1:165797290-165797303
15	BCLAF1	chr1:165797331-165798487	GM12878	blood:	n/a	chr1:165797592-165797605
16	BHLHE40	chr1:165796726-165798247	GM12878	blood:	n/a	chr1:165797174-165797190 chr1:165797235-165797251 chr1:165797598-165797614 chr1:165796971-165796987 chr1:165797227-165797243
17	BHLHE40	chr1:165796700-165797639	HepG2	liver:	n/a	chr1:165797174-165797190 chr1:165797235-165797251 chr1:165797598-165797614 chr1:165796971-165796987 chr1:165797227-165797243
18	BHLHE40	chr1:165796751-165798425	K562	blood:	n/a	chr1:165797174-165797190 chr1:165797235-165797251 chr1:165797598-165797614 chr1:165796971-165796987 chr1:165797227-165797243
19	BRCA1	chr1:165798027-165798163	HepG2	liver:	n/a	n/a
20	BRCA1	chr1:165796773-165797043	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr1:165796837-165796957	H1-hESC	embryonic stem cell:	n/a	n/a
22	CBX3	chr1:165796600-165798501	K562	blood:	n/a	n/a
23	CCNT2	chr1:165796653-165798350	K562	blood:	n/a	chr1:165797716-165797725
24	CEBPB	chr1:165797202-165797646	K562	blood:	n/a	n/a
25	CEBPB	chr1:165797310-165797612	A549	lung:	n/a	n/a
26	CEBPB	chr1:165796683-165798607	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr1:165797234-165797664	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:165797341-165797751	IMR90	lung:	n/a	n/a
29	CEBPB	chr1:165797340-165797719	MCF-7	breast:	n/a	n/a
30	CEBPB	chr1:165797062-165797923	K562	blood:	n/a	n/a
31	CEBPB	chr1:165797307-165797657	A549	lung:	n/a	n/a
32	CEBPB	chr1:165797305-165797862	A549	lung:	n/a	n/a
33	CEBPD	chr1:165797125-165797873	K562	blood:	n/a	n/a
34	CEBPD	chr1:165797327-165797764	HepG2	liver:	n/a	n/a
35	CEBPD	chr1:165798006-165798538	K562	blood:	n/a	n/a
36	CEBPD	chr1:165796603-165797312	HepG2	liver:	n/a	n/a
37	CHD1	chr1:165796874-165799140	GM12878	blood:	n/a	chr1:165797014-165797024 chr1:165797585-165797595 chr1:165797665-165797675
38	CHD1	chr1:165796053-165799451	IMR90	lung:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
39	CHD1	chr1:165796796-165798733	H1-hESC	embryonic stem cell:	n/a	chr1:165797014-165797024 chr1:165797585-165797595 chr1:165797665-165797675
40	CHD2	chr1:165798092-165798489	HepG2	liver:	n/a	n/a
41	CHD2	chr1:165796740-165797737	H1-hESC	embryonic stem cell:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
42	CHD2	chr1:165798042-165798513	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr1:165796846-165797777	HepG2	liver:	n/a	chr1:165797014-165797024 chr1:165797585-165797595 chr1:165797665-165797675
44	CHD2	chr1:165796722-165798524	K562	blood:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
45	CHD2	chr1:165796627-165798548	Hela-S3	cervix:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
46	CHD2	chr1:165796716-165798513	GM12878	blood:	n/a	chr1:165797014-165797024 chr1:165796765-165796775 chr1:165797585-165797595 chr1:165797665-165797675
47	CREB1	chr1:165796621-165797452	A549	lung:	n/a	n/a
48	CREB1	chr1:165796524-165797903	HepG2	liver:	n/a	n/a
49	CREB1	chr1:165798099-165798505	A549	lung:	n/a	n/a
50	CREB1	chr1:165796642-165797978	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:165798420-165798470	T-47D	breast:	n/a
2	chr1:165798420-165798470	T-47D	breast:	n/a
3	chr1:165798382-165798432	SK-N-SH_RA	brain:	n/a
4	chr1:165797377-165797427	Hepatocyte	liver:	n/a
5	chr1:165796797-165796847	NB4	blood:	n/a
6	chr1:165796857-165796907	Hepatocyte	liver:	n/a
7	chr1:165797085-165797135	GM12892	blood:	n/a
8	chr1:165797377-165797427	NH-A	brain:	n/a
9	chr1:165796654-165796704	ProgFib	skin:	n/a
10	chr1:165797377-165797427	Jurkat	blood:	n/a
11	chr1:165797173-165797223	Hepatocyte	liver:	n/a
12	chr1:165798382-165798432	IMR90	lung:	fetal
13	chr1:165798382-165798432	NHBE	bronchial:	n/a
14	chr1:165797377-165797427	HRCEpiC	kidney:	n/a
15	chr1:165796797-165796847	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:165798420-165798470	U87	brain:	n/a
17	chr1:165798420-165798470	PFSK-1	brain:	n/a
18	chr1:165797892-165797942	MCF10A-Er-Src	breast:	n/a
19	chr1:165796654-165796704	GM12891	blood:	n/a
20	chr1:165796857-165796907	HEK293	kidney:	embryo
21	chr1:165796654-165796704	PrEC	prostate:	n/a
22	chr1:165797511-165797561	SKMC	muscle:	n/a
23	chr1:165797387-165797437	Hela-S3	cervix:	n/a
24	chr1:165797511-165797561	HL-60	blood:	n/a
25	chr1:165797511-165797561	T-47D	breast:	n/a
26	chr1:165797377-165797427	HIPEpiC	eye:	n/a
27	chr1:165796857-165796907	AG04449	skin:	fetal
28	chr1:165798420-165798470	AG04450	lung:	fetal
29	chr1:165798420-165798470	BJ	skin:	n/a
30	chr1:165797173-165797223	HUVEC	blood vessel:	n/a
31	chr1:165797377-165797427	HEK293	kidney:	embryo
32	chr1:165797892-165797942	HCM	heart:	n/a
33	chr1:165797892-165797942	SK-N-SH_RA	brain:	n/a
34	chr1:165797085-165797135	GM12891	blood:	n/a
35	chr1:165798382-165798432	AG09319	gingival:	n/a
36	chr1:165796797-165796847	RPTEC	kidney:	n/a
37	chr1:165797173-165797223	AG10803	skin:	n/a
38	chr1:165796654-165796704	HCT-116	colon:	n/a
39	chr1:165797377-165797427	HL-60	blood:	n/a
40	chr1:165797511-165797561	AG09319	gingival:	n/a
41	chr1:165797085-165797135	HNPCEpiC	eye:	n/a
42	chr1:165797387-165797437	ECC-1	luminal epithelium:	n/a
43	chr1:165796654-165796704	Hela-S3	cervix:	n/a
44	chr1:165796857-165796907	IMR90	lung:	fetal
45	chr1:165797173-165797223	H1-hESC	embryonic stem cell:	embryo
46	chr1:165798382-165798432	SK-N-SH	brain:	n/a
47	chr1:165797173-165797223	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:165797377-165797427	HCF	heart:	n/a
49	chr1:165798420-165798470	A549	lung:	n/a
50	chr1:165797085-165797135	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr1:165797276..165798002-chr7:100860513..100861460,2	Hela-S3	cervix:
2	chr1:165797192..165797753-chr1:165840469..165841268,2	MCF-7	breast:
3	chr1:165797500..165798067-chr6:134489786..134490486,2	Hela-S3	cervix:
4	chr1:165741744..165743826-chr1:165797591..165799642,2	MCF-7	breast:
5	chr1:165797327..165800051-chr1:165876668..165879627,3	MCF-7	breast:
6	chr1:165685761..165688091-chr1:165797394..165800120,2	K562	blood:
7	chr1:165797268..165798031-chr11:64084976..64085603,2	Hela-S3	cervix:
8	chr1:165797467..165799152-chr1:165835828..165838379,2	MCF-7	breast:
9	chr1:45196193..45196931-chr1:165796785..165797648,2	Hela-S3	cervix:
10	chr1:165797148..165797921-chr19:16189779..16190364,2	Hela-S3	cervix:
11	chr1:165797906..165798776-chr17:43225882..43226503,2	Hela-S3	cervix:
12	chr1:165598109..165601268-chr1:165795469..165798298,3	MCF-7	breast:
13	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
14	chr1:165710113..165712004-chr1:165797069..165798776,2	K562	blood:
15	chr1:165701898..165704747-chr1:165797455..165798967,2	K562	blood:
16	chr1:165797802..165798336-chr19:36036615..36037222,2	Hela-S3	cervix:
17	chr1:165797729..165798599-chr15:82554332..82555042,2	Hela-S3	cervix:
18	chr1:165699126..165701487-chr1:165797315..165798954,2	K562	blood:
19	chr1:165778822..165780861-chr1:165797146..165799667,2	MCF-7	breast:
20	chr1:165797297..165798088-chr19:893323..894173,2	Hela-S3	cervix:
21	chr1:165795614..165797230-chr19:573717..575318,2	K562	blood:
22	chr1:165797619..165798446-chr10:35415749..35416742,2	Hela-S3	cervix:
23	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
24	chr1:165564921..165568209-chr1:165795710..165798284,3	K562	blood:
25	chr1:165598807..165601582-chr1:165797127..165800019,4	K562	blood:
26	chr1:165738181..165738790-chr1:165797712..165798704,2	Hela-S3	cervix:
27	chr1:165797029..165799386-chr1:165863557..165867019,3	K562	blood:
28	chr1:165796757..165797325-chr2:203240315..203241252,2	NB4	blood:
29	chr1:165797761..165798556-chr2:55275797..55276425,2	Hela-S3	cervix:
30	chr1:165666837..165669027-chr1:165796687..165798880,2	MCF-7	breast:
31	chr1:165599775..165601444-chr1:165795750..165798255,2	K562	blood:
32	chr1:165795600..165798299-chr1:165863664..165866486,4	MCF-7	breast:
33	chr1:165796668..165797173-chr6:27777658..27778331,2	Hela-S3	cervix:
34	chr1:165666281..165669188-chr1:165795955..165797975,3	MCF-7	breast:
35	chr1:165797822..165798445-chr11:65238400..65239297,2	Hela-S3	cervix:
36	chr1:165796721..165797304-chr17:8076192..8077080,2	NB4	blood:
37	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
38	chr1:165796745..165797681-chr16:284742..285519,2	Hela-S3	cervix:
39	chr1:165797895..165798858-chr1:210546984..210547752,2	Hela-S3	cervix:
40	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
41	chr1:165797726..165798688-chr9:140135624..140136134,2	Hela-S3	cervix:
42	chr1:165797353..165798141-chr14:103540442..103541389,2	Hela-S3	cervix:
43	chr1:165798053..165799867-chr1:165811993..165814835,2	MCF-7	breast:
44	chr1:165797659..165798365-chr7:50859677..50860628,2	Hela-S3	cervix:
45	chr1:165796719..165798432-chr1:167188997..167191733,2	K562	blood:
46	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
47	chr1:165795265..165796893-chr1:166808551..166810494,2	K562	blood:

Variant related genes	Relation type
UCK2	TF binding region
TMCO1	TF binding region
UCK2	CpG island
TMCO1	CpG island
ENSG00000143157	chromatin interactions
ENSG00000143179	chromatin interactions
ENSG00000273456	chromatin interactions
ENSG00000143149	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000215838	chromatin interactions
ENSG00000172270	chromatin interactions
ENSG00000106397	chromatin interactions
ENSG00000167930	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000143183	chromatin interactions
ENSG00000095794	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000230534	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000143198	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000272205	chromatin interactions
ENSG00000236206	chromatin interactions
ENSG00000236144	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000143190	chromatin interactions
ENSG00000140598	chromatin interactions
ENSG00000207507	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000224358	chromatin interactions
ENSG00000106400	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532785277	chr1:165795968-165795969	Weak transcription Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs546394925	chr1:165796013-165796014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs562915401	chr1:165796018-165796019	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs532049738	chr1:165796029-165796030	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs544205786	chr1:165796056-165796057	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs113896686	chr1:165796073-165796074	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs143347912	chr1:165796107-165796108	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs185811704	chr1:165796151-165796152	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs567755641	chr1:165796234-165796235	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs527676929	chr1:165796267-165796268	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs536527663	chr1:165796289-165796290	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs547527239	chr1:165796307-165796308	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs539067553	chr1:165796348-165796349	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs539277297	chr1:165796369-165796370	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs556337662	chr1:165796394-165796395	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs77997300	chr1:165796443-165796444	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs78910248	chr1:165796456-165796457	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs555370146	chr1:165796464-165796465	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs572109082	chr1:165796527-165796528	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs560674996	chr1:165796616-165796617	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs74118909	chr1:165796620-165796621	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs541008557	chr1:165796625-165796626	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs557912544	chr1:165796635-165796636	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs577832961	chr1:165796723-165796724	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs543119331	chr1:165796766-165796767	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs563108172	chr1:165796824-165796825	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs190341677	chr1:165796851-165796852	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs115230060	chr1:165796906-165796907	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs562035194	chr1:165796935-165796936	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs527714255	chr1:165796993-165796994	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs368846066	chr1:165797034-165797035	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs547366690	chr1:165797056-165797057	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs373091415	chr1:165797076-165797077	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs200215834	chr1:165797088-165797089	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs376505646	chr1:165797183-165797184	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs113122359	chr1:165797291-165797292	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs144847503	chr1:165797313-165797314	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs569878104	chr1:165797318-165797319	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs143863367	chr1:165797340-165797341	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs7518418	chr1:165797349-165797350	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549290752	chr1:165797361-165797362	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs565956135	chr1:165797369-165797370	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs530445217	chr1:165797398-165797399	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs371919852	chr1:165797418-165797419	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs375773600	chr1:165797505-165797506	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs557804186	chr1:165797513-165797514	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs555713577	chr1:165797546-165797547	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs115817317	chr1:165797549-165797550	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs556780002	chr1:165797568-165797569	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs34130134	chr1:165797574-165797575	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD

Chromatin state (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165790800-165796200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:165790800-165796200	Weak transcription	Right Atrium	heart
3	chr1:165790800-165796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:165792800-165796200	Weak transcription	Pancreas	Pancrea
5	chr1:165793200-165796000	Weak transcription	Brain Anterior Caudate	brain
6	chr1:165793800-165796000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:165793800-165796000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:165793800-165796000	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:165793800-165796000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:165793800-165796000	Weak transcription	K562	blood
11	chr1:165793800-165796200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:165793800-165796200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:165793800-165796200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:165793800-165796200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:165793800-165796200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:165793800-165796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:165793800-165796200	Weak transcription	HSMM	muscle
18	chr1:165793800-165796200	Weak transcription	Osteobl	bone
19	chr1:165793800-165796400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:165794000-165796000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:165794000-165796200	Weak transcription	NHDF-Ad	bronchial
22	chr1:165794200-165796200	Weak transcription	Aorta	Aorta
23	chr1:165795400-165796000	Weak transcription	Fetal Intestine Small	intestine
24	chr1:165795800-165796000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:165795800-165796000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:165795800-165796000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:165795800-165796000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:165795800-165796000	Enhancers	Brain Angular Gyrus	brain
29	chr1:165795800-165796000	Enhancers	Brain Cingulate Gyrus	brain
30	chr1:165795800-165796000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:165795800-165796000	Enhancers	Brain Substantia Nigra	brain
32	chr1:165795800-165796000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:165795800-165796000	Active TSS	Hela-S3	cervix
34	chr1:165795800-165796000	Bivalent Enhancer	HepG2	liver
35	chr1:165795800-165796000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr1:165795800-165796000	Enhancers	NH-A	brain
37	chr1:165795800-165796200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:165795800-165796200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:165795800-165796200	Enhancers	Dnd41	blood
40	chr1:165795800-165796400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:165795800-165796400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr1:165795800-165796400	Enhancers	Primary B cells from peripheral blood	blood
43	chr1:165795800-165796600	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr1:165796000-165796200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:165796000-165796200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:165796000-165796200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:165796000-165796200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:165796000-165796200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr1:165796000-165796200	Enhancers	Primary B cells from cord blood	blood
50	chr1:165796000-165796200	Bivalent Enhancer	Primary T cells from cord blood	blood

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