Variant report

Variant	nsv517792
Chromosome Location	chr1:165785503-165811729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1201)
CpG islands
(count:977)
Chromatin interactive
region (count:72)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1201 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:165786096-165786650	K562	blood:	n/a	n/a
2	ARID3A	chr1:165804455-165804459	K562	blood:	n/a	n/a
3	ARID3A	chr1:165798068-165798548	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:165805671-165806378	K562	blood:	n/a	n/a
5	ARID3A	chr1:165796882-165797222	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:165796863-165797423	K562	blood:	n/a	n/a
7	ARID3A	chr1:165797978-165798581	K562	blood:	n/a	n/a
8	ATF1	chr1:165806102-165806572	K562	blood:	n/a	n/a
9	ATF1	chr1:165809815-165809977	K562	blood:	n/a	n/a
10	ATF1	chr1:165786317-165786682	K562	blood:	n/a	n/a
11	ATF2	chr1:165811630-165812529	GM12878	blood:	n/a	n/a
12	ATF2	chr1:165797619-165797979	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr1:165797281-165797779	A549	lung:	n/a	chr1:165797580-165797600
14	BACH1	chr1:165797030-165797932	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr1:165805976-165806472	K562	blood:	n/a	n/a
16	BACH1	chr1:165802226-165802358	K562	blood:	n/a	chr1:165802287-165802301
17	BACH1	chr1:165786360-165786465	K562	blood:	n/a	n/a
18	BACH1	chr1:165802146-165802433	H1-hESC	embryonic stem cell:	n/a	chr1:165802287-165802301
19	BACH1	chr1:165810967-165811168	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr1:165793311-165793768	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr1:165797394-165797908	K562	blood:	n/a	n/a
22	BACH1	chr1:165796590-165796622	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr1:165805810-165806399	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr1:165810816-165811117	GM12878	blood:	n/a	chr1:165810935-165810946 chr1:165810940-165810950
25	BATF	chr1:165811563-165811917	GM12878	blood:	n/a	n/a
26	BCL3	chr1:165797500-165797816	GM12878	blood:	n/a	chr1:165797592-165797605
27	BCL3	chr1:165797489-165798454	A549	lung:	n/a	chr1:165797592-165797605
28	BCL3	chr1:165797317-165798429	A549	lung:	n/a	chr1:165797592-165797605
29	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
30	BCLAF1	chr1:165797331-165798487	GM12878	blood:	n/a	chr1:165797592-165797605
31	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
32	BHLHE40	chr1:165796751-165798425	K562	blood:	n/a	chr1:165797174-165797190 chr1:165797235-165797251 chr1:165797598-165797614 chr1:165796971-165796987 chr1:165797227-165797243
33	BHLHE40	chr1:165802248-165802807	K562	blood:	n/a	n/a
34	BHLHE40	chr1:165806023-165806409	K562	blood:	n/a	n/a
35	BHLHE40	chr1:165811638-165812540	GM12878	blood:	n/a	n/a
36	BHLHE40	chr1:165811557-165812451	K562	blood:	n/a	n/a
37	BHLHE40	chr1:165785073-165786670	K562	blood:	n/a	n/a
38	BHLHE40	chr1:165796700-165797639	HepG2	liver:	n/a	chr1:165797174-165797190 chr1:165797235-165797251 chr1:165797598-165797614 chr1:165796971-165796987 chr1:165797227-165797243
39	BHLHE40	chr1:165810925-165811190	K562	blood:	n/a	n/a
40	BHLHE40	chr1:165796726-165798247	GM12878	blood:	n/a	chr1:165797174-165797190 chr1:165797235-165797251 chr1:165797598-165797614 chr1:165796971-165796987 chr1:165797227-165797243
41	BRCA1	chr1:165796837-165796957	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr1:165798027-165798163	HepG2	liver:	n/a	n/a
43	BRCA1	chr1:165796773-165797043	Hela-S3	cervix:	n/a	n/a
44	CBX3	chr1:165810708-165811151	K562	blood:	n/a	n/a
45	CBX3	chr1:165786027-165786708	K562	blood:	n/a	n/a
46	CBX3	chr1:165796600-165798501	K562	blood:	n/a	n/a
47	CCNT2	chr1:165786200-165786718	K562	blood:	n/a	n/a
48	CCNT2	chr1:165796653-165798350	K562	blood:	n/a	chr1:165797716-165797725
49	CEBPB	chr1:165797310-165797612	A549	lung:	n/a	n/a
50	CEBPB	chr1:165797341-165797751	IMR90	lung:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:165798382-165798432	HNPCEpiC	eye:	n/a
2	chr1:165798382-165798432	HNPCEpiC	eye:	n/a
3	chr1:165795263-165795313	HRCEpiC	kidney:	n/a
4	chr1:165797173-165797223	LNCaP	prostate:	n/a
5	chr1:165796857-165796907	ProgFib	skin:	n/a
6	chr1:165794325-165794375	NB4	blood:	n/a
7	chr1:165796797-165796847	NT2-D1	testis:	n/a
8	chr1:165798382-165798432	Hepatocyte	liver:	n/a
9	chr1:165800129-165800179	SK-N-MC	brain:	n/a
10	chr1:165797892-165797942	ProgFib	skin:	n/a
11	chr1:165797892-165797942	PrEC	prostate:	n/a
12	chr1:165797085-165797135	Hela-S3	cervix:	n/a
13	chr1:165797173-165797223	NB4	blood:	n/a
14	chr1:165797377-165797427	BE2_C	brain:	n/a
15	chr1:165797085-165797135	HCT-116	colon:	n/a
16	chr1:165796857-165796907	PrEC	prostate:	n/a
17	chr1:165797387-165797437	A549	lung:	n/a
18	chr1:165800129-165800179	RPTEC	kidney:	n/a
19	chr1:165800129-165800179	HL-60	blood:	n/a
20	chr1:165797085-165797135	ovcar-3	ovarian:	n/a
21	chr1:165796797-165796847	CMK	blood:	n/a
22	chr1:165795263-165795313	AG04449	skin:	fetal
23	chr1:165795263-165795313	HCPEpiC	choroid plexus:	n/a
24	chr1:165797085-165797135	GM06990	blood:	n/a
25	chr1:165797085-165797135	T-47D	breast:	n/a
26	chr1:165796654-165796704	HCM	heart:	n/a
27	chr1:165795263-165795313	IMR90	lung:	fetal
28	chr1:165796654-165796704	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:165796654-165796704	Jurkat	blood:	n/a
30	chr1:165797892-165797942	AG04449	skin:	fetal
31	chr1:165811207-165811257	AG09319	gingival:	n/a
32	chr1:165798382-165798432	HRE	kidney:	n/a
33	chr1:165797085-165797135	HMEC	breast:	n/a
34	chr1:165795263-165795313	NHDF-neo	bronchial:	n/a
35	chr1:165797905-165797955	HRE	kidney:	n/a
36	chr1:165797173-165797223	NHDF-neo	bronchial:	n/a
37	chr1:165794325-165794375	AG10803	skin:	n/a
38	chr1:165796797-165796847	H1-hESC	embryonic stem cell:	embryo
39	chr1:165797905-165797955	PFSK-1	brain:	n/a
40	chr1:165797085-165797135	Caco-2	colon:	n/a
41	chr1:165811207-165811257	HRE	kidney:	n/a
42	chr1:165795263-165795313	AG10803	skin:	n/a
43	chr1:165797511-165797561	Hela-S3	cervix:	n/a
44	chr1:165811207-165811257	SKMC	muscle:	n/a
45	chr1:165798420-165798470	HUVEC	blood vessel:	n/a
46	chr1:165797377-165797427	MCF10A-Er-Src	breast:	n/a
47	chr1:165796797-165796847	GM19239	blood:	n/a
48	chr1:165796857-165796907	HMEC	breast:	n/a
49	chr1:165811207-165811257	GM12878	blood:	n/a
50	chr1:165800129-165800179	HNPCEpiC	eye:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:165806807..165812397-chr1:165814507..165819170,6	MCF-7	breast:
2	chr1:165810645..165813480-chr1:165823292..165825548,2	K562	blood:
3	chr1:165789977..165794630-chr1:165795675..165799521,5	MCF-7	breast:
4	chr1:165782486..165785827-chr1:165791415..165794070,4	K562	blood:
5	chr1:165795614..165797230-chr19:573717..575318,2	K562	blood:
6	chr1:165801445..165804427-chr3:53618879..53621657,2	MCF-7	breast:
7	chr1:165797148..165797921-chr19:16189779..16190364,2	Hela-S3	cervix:
8	chr1:165798053..165799867-chr1:165811993..165814835,2	MCF-7	breast:
9	chr1:165797276..165798002-chr7:100860513..100861460,2	Hela-S3	cervix:
10	chr1:165738281..165740452-chr1:165785829..165787705,2	K562	blood:
11	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
12	chr1:165795600..165798299-chr1:165863664..165866486,4	MCF-7	breast:
13	chr1:165598807..165601582-chr1:165797127..165800019,4	K562	blood:
14	chr1:165738181..165738790-chr1:165797712..165798704,2	Hela-S3	cervix:
15	chr1:165598109..165601268-chr1:165795469..165798298,3	MCF-7	breast:
16	chr1:165782486..165785827-chr1:165791415..165794070,4	K562	blood:
17	chr1:165797619..165798446-chr10:35415749..35416742,2	Hela-S3	cervix:
18	chr1:165734875..165737199-chr1:165810836..165813345,2	K562	blood:
19	chr1:165666281..165669188-chr1:165795955..165797975,3	MCF-7	breast:
20	chr1:165797802..165798336-chr19:36036615..36037222,2	Hela-S3	cervix:
21	chr1:165789511..165794816-chr1:165795192..165798918,9	MCF-7	breast:
22	chr1:165667556..165669480-chr1:165798614..165800246,2	K562	blood:
23	chr1:165796721..165797304-chr17:8076192..8077080,2	NB4	blood:
24	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
25	chr1:45196193..45196931-chr1:165796785..165797648,2	Hela-S3	cervix:
26	chr1:165797729..165798599-chr15:82554332..82555042,2	Hela-S3	cervix:
27	chr1:165795094..165800839-chr1:165801377..165807202,13	MCF-7	breast:
28	chr1:165666837..165669027-chr1:165796687..165798880,2	MCF-7	breast:
29	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
30	chr1:165739953..165741791-chr1:165806314..165808597,2	K562	blood:
31	chr1:165741744..165743826-chr1:165797591..165799642,2	MCF-7	breast:
32	chr1:165685761..165688091-chr1:165797394..165800120,2	K562	blood:
33	chr1:165796719..165798432-chr1:167188997..167191733,2	K562	blood:
34	chr1:165797906..165798776-chr17:43225882..43226503,2	Hela-S3	cervix:
35	chr1:165778822..165780861-chr1:165797146..165799667,2	MCF-7	breast:
36	chr1:165783564..165786878-chr1:165795722..165800195,9	K562	blood:
37	chr1:165797726..165798688-chr9:140135624..140136134,2	Hela-S3	cervix:
38	chr1:165797500..165798067-chr6:134489786..134490486,2	Hela-S3	cervix:
39	chr1:165797895..165798858-chr1:210546984..210547752,2	Hela-S3	cervix:
40	chr1:165796668..165797173-chr6:27777658..27778331,2	Hela-S3	cervix:
41	chr1:165796745..165797681-chr16:284742..285519,2	Hela-S3	cervix:
42	chr1:165797822..165798445-chr11:65238400..65239297,2	Hela-S3	cervix:
43	chr1:165803840..165805372-chr1:166123087..166125887,2	K562	blood:
44	chr1:165804707..165809840-chr1:165822123..165825220,4	K562	blood:
45	chr1:165797029..165799386-chr1:165863557..165867019,3	K562	blood:
46	chr1:165654373..165656083-chr1:165811609..165814179,2	K562	blood:
47	chr1:165797761..165798556-chr2:55275797..55276425,2	Hela-S3	cervix:
48	chr1:165795265..165796893-chr1:166808551..166810494,2	K562	blood:
49	chr1:165797659..165798365-chr7:50859677..50860628,2	Hela-S3	cervix:
50	chr1:165710113..165712004-chr1:165797069..165798776,2	K562	blood:

No data

Variant related genes	Relation type
UCK2	TF binding region
TMCO1	TF binding region
ENSG00000230659	TF binding region
UCK2	CpG island
TMCO1	CpG island
ENSG00000230659	CpG island
ENSG00000143149	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000198327	chromatin interactions
ENSG00000215838	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000143183	chromatin interactions
ENSG00000224358	chromatin interactions
ENSG00000167930	chromatin interactions
ENSG00000236206	chromatin interactions
ENSG00000207507	chromatin interactions
ENSG00000273456	chromatin interactions
ENSG00000230659	chromatin interactions
ENSG00000172270	chromatin interactions
ENSG00000230534	chromatin interactions
ENSG00000143190	chromatin interactions
ENSG00000143157	chromatin interactions
ENSG00000106400	chromatin interactions
ENSG00000140598	chromatin interactions
ENSG00000143179	chromatin interactions
ENSG00000095794	chromatin interactions
ENSG00000272205	chromatin interactions
ENSG00000236144	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000106397	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000143198	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000215952	chromatin interactions

Extended variants
information (count: 1018 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1018 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2814466	chr1:165785503-165785504	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367628921	chr1:165785505-165785506	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs146501956	chr1:165785596-165785597	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs367928972	chr1:165785598-165785599	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs532675224	chr1:165785628-165785629	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs528944864	chr1:165785640-165785641	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs139147944	chr1:165785657-165785658	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs191421105	chr1:165785706-165785707	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs550774498	chr1:165785732-165785733	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs567440924	chr1:165785743-165785744	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs182591815	chr1:165785766-165785767	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs187724703	chr1:165785790-165785791	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs566467709	chr1:165785835-165785836	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs140257798	chr1:165785897-165785898	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs192580035	chr1:165785923-165785924	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs574981726	chr1:165785929-165785930	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs537273882	chr1:165785933-165785934	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs557152267	chr1:165785943-165785944	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs573859266	chr1:165785946-165785947	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs543313826	chr1:165785964-165785965	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs559749102	chr1:165786002-165786003	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs183496377	chr1:165786035-165786036	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs545065517	chr1:165786073-165786074	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs147718377	chr1:165786102-165786103	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs368656300	chr1:165786103-165786104	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs187821722	chr1:165786118-165786119	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs78764594	chr1:165786122-165786123	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs77462047	chr1:165786125-165786126	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs374508343	chr1:165786141-165786142	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs551060421	chr1:165786160-165786161	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs367679473	chr1:165786162-165786163	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs114615657	chr1:165786200-165786201	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs546922149	chr1:165786228-165786229	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs547885440	chr1:165786246-165786247	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs192307908	chr1:165786253-165786254	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs538665772	chr1:165786268-165786269	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs79593399	chr1:165786294-165786295	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs185269046	chr1:165786308-165786309	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs2790057	chr1:165786311-165786312	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189577809	chr1:165786332-165786333	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs574179829	chr1:165786361-165786362	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs192831529	chr1:165786393-165786394	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs184415218	chr1:165786427-165786428	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs553668184	chr1:165786435-165786436	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs150361267	chr1:165786507-165786508	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs188046598	chr1:165786566-165786567	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs180763816	chr1:165786593-165786594	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs73016661	chr1:165786617-165786618	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544722418	chr1:165786622-165786623	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs10918288	chr1:165786629-165786630	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1183 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165784600-165786600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:165784800-165785600	Enhancers	NHDF-Ad	bronchial
3	chr1:165785000-165785600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:165785000-165785600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:165785000-165785600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:165785000-165785600	Enhancers	Fetal Intestine Large	intestine
7	chr1:165785000-165785600	Enhancers	Fetal Intestine Small	intestine
8	chr1:165785000-165785600	Enhancers	Right Atrium	heart
9	chr1:165785000-165787600	Enhancers	Fetal Heart	heart
10	chr1:165785400-165785600	Flanking Active TSS	K562	blood
11	chr1:165785400-165786000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:165785400-165788000	Weak transcription	Gastric	stomach
13	chr1:165785600-165786200	Enhancers	K562	blood
14	chr1:165785600-165790600	Weak transcription	Right Atrium	heart
15	chr1:165785800-165786400	Enhancers	Right Ventricle	heart
16	chr1:165786200-165786600	Flanking Active TSS	K562	blood
17	chr1:165786600-165787600	Enhancers	K562	blood
18	chr1:165787400-165787600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:165787600-165792800	Weak transcription	K562	blood
20	chr1:165787800-165790200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:165789600-165790600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:165790200-165791800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:165790600-165790800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:165790600-165790800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:165790600-165790800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:165790600-165790800	ZNF genes & repeats	Right Atrium	heart
27	chr1:165790800-165791600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:165790800-165796200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:165790800-165796200	Weak transcription	Right Atrium	heart
30	chr1:165790800-165796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:165791800-165792800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:165792800-165793200	Enhancers	Brain Angular Gyrus	brain
33	chr1:165792800-165793800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:165792800-165793800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:165792800-165793800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:165792800-165793800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:165792800-165793800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:165792800-165793800	Enhancers	Brain Hippocampus Middle	brain
39	chr1:165792800-165793800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr1:165792800-165793800	Enhancers	K562	blood
41	chr1:165792800-165794000	Enhancers	NHDF-Ad	bronchial
42	chr1:165792800-165796200	Weak transcription	Pancreas	Pancrea
43	chr1:165793000-165793200	Enhancers	Brain Anterior Caudate	brain
44	chr1:165793000-165793200	Enhancers	HepG2	liver
45	chr1:165793000-165793800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:165793000-165793800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr1:165793000-165793800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:165793000-165793800	Enhancers	Brain Substantia Nigra	brain
49	chr1:165793000-165793800	Enhancers	HSMM	muscle
50	chr1:165793200-165793800	Enhancers	H9 Cell Line	embryonic stem cell

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