Variant report

Variant	esv3340290
Chromosome Location	chr3:138066687-138069235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:439)
CpG islands
(count:489)
Chromatin interactive
region (count:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:138066913-138066915	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:138067151-138067346	HepG2	liver:	n/a	n/a
3	BACH1	chr3:138066908-138067906	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr3:138066387-138066832	HepG2	liver:	n/a	n/a
5	BHLHE40	chr3:138066719-138066755	GM12878	blood:	n/a	n/a
6	BHLHE40	chr3:138067101-138067658	HepG2	liver:	n/a	chr3:138067348-138067364
7	CCNT2	chr3:138067110-138067768	K562	blood:	n/a	chr3:138067204-138067213 chr3:138067288-138067297 chr3:138067632-138067641
8	CEBPB	chr3:138067289-138067489	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr3:138069164-138069587	HepG2	liver:	n/a	n/a
10	CEBPB	chr3:138067229-138067526	HepG2	liver:	n/a	n/a
11	CEBPB	chr3:138067215-138067562	IMR90	lung:	n/a	n/a
12	CEBPB	chr3:138069202-138069491	HepG2	liver:	n/a	n/a
13	CEBPB	chr3:138066820-138067761	Hela-S3	cervix:	n/a	n/a
14	CEBPD	chr3:138067255-138067550	HepG2	liver:	n/a	n/a
15	CHD1	chr3:138067340-138067435	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr3:138066878-138067024	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr3:138067849-138067891	K562	blood:	n/a	n/a
18	CHD2	chr3:138068058-138068193	HepG2	liver:	n/a	n/a
19	CHD2	chr3:138067730-138067896	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr3:138067247-138067351	HepG2	liver:	n/a	n/a
21	CHD2	chr3:138066814-138067108	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr3:138066865-138067606	Hela-S3	cervix:	n/a	n/a
23	CREB1	chr3:138067289-138067538	A549	lung:	n/a	n/a
24	CTBP2	chr3:138066776-138067761	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr3:138067120-138067270	HRE	kidney:	n/a	chr3:138067224-138067237
26	CTCF	chr3:138067136-138067331	Medullo	brain:	n/a	chr3:138067224-138067237
27	CTCF	chr3:138067140-138067290	AG09319	gingival:	n/a	chr3:138067224-138067237
28	CTCF	chr3:138067160-138067310	GM12872	blood:	n/a	chr3:138067224-138067237
29	CTCF	chr3:138066660-138067932	A549	lung:	n/a	chr3:138067224-138067237
30	CTCF	chr3:138067120-138067270	GM12874	blood:	n/a	chr3:138067224-138067237
31	CTCF	chr3:138067092-138067309	K562	blood:	n/a	chr3:138067224-138067237
32	CTCF	chr3:138067180-138067330	WI-38	lung:	n/a	chr3:138067224-138067237
33	CTCF	chr3:138068100-138068250	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr3:138068220-138068370	AG10803	skin:	n/a	n/a
35	CTCF	chr3:138067125-138067342	MCF-7	breast:	n/a	chr3:138067224-138067237
36	CTCF	chr3:138067080-138067230	GM12875	blood:	n/a	n/a
37	CTCF	chr3:138066959-138067457	H1-hESC	embryonic stem cell:	n/a	chr3:138067224-138067237
38	CTCF	chr3:138067105-138067340	A549	lung:	n/a	chr3:138067224-138067237
39	CTCF	chr3:138067029-138067534	K562	blood:	n/a	chr3:138067224-138067237
40	CTCF	chr3:138067044-138067391	HepG2	liver:	n/a	chr3:138067224-138067237
41	CTCF	chr3:138068120-138068270	HMEC	breast:	n/a	n/a
42	CTCF	chr3:138066676-138067790	SK-N-SH	brain:	n/a	chr3:138067224-138067237
43	CTCF	chr3:138067126-138067305	GM12891	blood:	n/a	chr3:138067224-138067237
44	CTCF	chr3:138067140-138067290	AG04450	lung:	n/a	chr3:138067224-138067237
45	CTCF	chr3:138067134-138067316	GM19238	blood:	n/a	chr3:138067224-138067237
46	CTCF	chr3:138067142-138067312	HepG2	liver:	n/a	chr3:138067224-138067237
47	CTCF	chr3:138067160-138067310	HCT-116	colon:	n/a	chr3:138067224-138067237
48	CTCF	chr3:138067120-138067270	AG09319	gingival:	n/a	chr3:138067224-138067237
49	CTCF	chr3:138067184-138067237	GM12878	blood:	n/a	chr3:138067224-138067237
50	CTCF	chr3:138067200-138067350	HFF-Myc	foreskin:	n/a	chr3:138067224-138067237

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:138067402-138067452	Caco-2	colon:	n/a
2	chr3:138067402-138067452	Caco-2	colon:	n/a
3	chr3:138067409-138067459	HEK293	kidney:	embryo
4	chr3:138067404-138067454	NT2-D1	testis:	n/a
5	chr3:138067623-138067673	NT2-D1	testis:	n/a
6	chr3:138067623-138067673	GM06990	blood:	n/a
7	chr3:138067606-138067656	GM19239	blood:	n/a
8	chr3:138067606-138067656	Caco-2	colon:	n/a
9	chr3:138067053-138067103	Hepatocyte	liver:	n/a
10	chr3:138067404-138067454	GM06990	blood:	n/a
11	chr3:138067623-138067673	SK-N-MC	brain:	n/a
12	chr3:138067853-138067903	HUVEC	blood vessel:	n/a
13	chr3:138067606-138067656	SAEC	small airway:	n/a
14	chr3:138067409-138067459	MCF-7	breast:	n/a
15	chr3:138067409-138067459	AoSMC	blood vessel:	n/a
16	chr3:138067350-138067400	MCF-7	breast:	n/a
17	chr3:138067053-138067103	MCF10A-Er-Src	breast:	n/a
18	chr3:138067606-138067656	SK-N-MC	brain:	n/a
19	chr3:138067402-138067452	K562	blood:	n/a
20	chr3:138067606-138067656	HEK293	kidney:	embryo
21	chr3:138067606-138067656	HCT-116	colon:	n/a
22	chr3:138067409-138067459	HepG2	liver:	n/a
23	chr3:138067623-138067673	U87	brain:	n/a
24	chr3:138067404-138067454	SK-N-SH_RA	brain:	n/a
25	chr3:138067623-138067673	ECC-1	luminal epithelium:	n/a
26	chr3:138067053-138067103	NHBE	bronchial:	n/a
27	chr3:138067402-138067452	NB4	blood:	n/a
28	chr3:138067402-138067452	Jurkat	blood:	n/a
29	chr3:138067053-138067103	HCPEpiC	choroid plexus:	n/a
30	chr3:138067053-138067103	AG04449	skin:	fetal
31	chr3:138067409-138067459	BE2_C	brain:	n/a
32	chr3:138067350-138067400	HL-60	blood:	n/a
33	chr3:138067853-138067903	GM12892	blood:	n/a
34	chr3:138067409-138067459	BJ	skin:	n/a
35	chr3:138067853-138067903	Hela-S3	cervix:	n/a
36	chr3:138067404-138067454	AoSMC	blood vessel:	n/a
37	chr3:138067350-138067400	HMEC	breast:	n/a
38	chr3:138067623-138067673	HRPEpiC	eye:	n/a
39	chr3:138067053-138067103	ECC-1	luminal epithelium:	n/a
40	chr3:138067350-138067400	CMK	blood:	n/a
41	chr3:138067623-138067673	HL-60	blood:	n/a
42	chr3:138067402-138067452	GM12878	blood:	n/a
43	chr3:138067853-138067903	IMR90	lung:	fetal
44	chr3:138067853-138067903	HPAEpiC	pulmonary alveolar:	n/a
45	chr3:138067404-138067454	SK-N-SH	brain:	n/a
46	chr3:138067402-138067452	AG10803	skin:	n/a
47	chr3:138067409-138067459	HUVEC	blood vessel:	n/a
48	chr3:138067606-138067656	AG04449	skin:	fetal
49	chr3:138067053-138067103	SK-N-SH_RA	brain:	n/a
50	chr3:138067606-138067656	NH-A	brain:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:138042389..138044114-chr3:138065779..138068075,2	K562	blood:
2	chr3:138047736..138050493-chr3:138067682..138070270,2	MCF-7	breast:
3	chr3:138047684..138048542-chr3:138066905..138067491,2	MCF-7	breast:
4	chr3:138065940..138068792-chr3:138150528..138153476,2	K562	blood:
5	chr3:138067437..138068027-chr7:100025997..100026727,2	Hela-S3	cervix:
6	chr3:138066201..138068907-chr3:138068935..138070591,2	MCF-7	breast:
7	chr3:138045780..138048564-chr3:138065051..138067433,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARMC8-2	chr3:138067988-138068221	NONHSAT092326
2	lnc-ARMC8-2	chr3:138068526-138069264	NONHSAT092326
3	lnc-ARMC8-2	chr3:138068526-138068793	NONHSAT092325
4	lnc-ARMC8-2	chr3:138067749-138067874	NONHSAT092325

No data

Variant related genes	Relation type
MRAS	TF binding region
MRAS	CpG island
ENSG00000158186	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000181322	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000158220	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373070432	chr3:138066712-138066713	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs544682478	chr3:138066738-138066739	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs188551962	chr3:138066750-138066751	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs114750329	chr3:138066754-138066755	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs540148740	chr3:138066777-138066778	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs377345745	chr3:138066804-138066805	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs547563600	chr3:138066819-138066820	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs146298087	chr3:138066906-138066907	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs75938464	chr3:138066950-138066951	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs151251728	chr3:138066968-138066969	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs569450269	chr3:138066982-138066983	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs553344469	chr3:138066984-138066985	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs531900185	chr3:138067059-138067060	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs538196319	chr3:138067119-138067120	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs76281141	chr3:138067138-138067139	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs2620501	chr3:138067142-138067143	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs557720626	chr3:138067210-138067211	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs571353693	chr3:138067220-138067221	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs534006219	chr3:138067235-138067236	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs553882068	chr3:138067246-138067247	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs140371629	chr3:138067316-138067317	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs6790398	chr3:138067322-138067323	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556376340	chr3:138067381-138067382	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs576270855	chr3:138067402-138067403	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs545330433	chr3:138067405-138067406	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs564873057	chr3:138067452-138067453	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs551993035	chr3:138067492-138067493	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs527314707	chr3:138067533-138067534	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs541092007	chr3:138067582-138067583	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs11713141	chr3:138067626-138067627	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529439002	chr3:138067662-138067663	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs373767513	chr3:138067683-138067684	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs549318753	chr3:138067688-138067689	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs569475578	chr3:138067689-138067690	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs1612422	chr3:138067694-138067695	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs531909394	chr3:138067760-138067761	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs551683912	chr3:138067765-138067766	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs571290479	chr3:138067866-138067867	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs138024847	chr3:138067872-138067873	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs547460099	chr3:138067960-138067961	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs372706405	chr3:138067973-138067974	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs575789134	chr3:138067980-138067981	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs3821696	chr3:138068009-138068010	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144671818	chr3:138068054-138068055	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs556078220	chr3:138068080-138068081	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs571916262	chr3:138068082-138068083	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs534473176	chr3:138068113-138068114	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs1002766	chr3:138068126-138068127	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs55879517	chr3:138068142-138068143	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs200521498	chr3:138068143-138068144	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138066000-138067800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr3:138066000-138068000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:138066000-138068000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:138066000-138068000	Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:138066000-138068400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:138066200-138066800	Flanking Active TSS	Hela-S3	cervix
7	chr3:138066200-138067000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:138066200-138068000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr3:138066200-138068000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:138066200-138068000	Active TSS	Fetal Lung	lung
11	chr3:138066200-138068000	Active TSS	NHDF-Ad	bronchial
12	chr3:138066200-138068200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:138066200-138068200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:138066200-138068200	Active TSS	Brain Angular Gyrus	brain
15	chr3:138066200-138068200	Active TSS	Brain Anterior Caudate	brain
16	chr3:138066200-138068200	Active TSS	Brain Cingulate Gyrus	brain
17	chr3:138066200-138068200	Active TSS	Brain Substantia Nigra	brain
18	chr3:138066200-138068200	Active TSS	Fetal Brain Female	brain
19	chr3:138066200-138068400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr3:138066200-138068400	Active TSS	A549	lung
21	chr3:138066200-138068600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr3:138066200-138069200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr3:138066200-138069200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:138066400-138066800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:138066400-138066800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:138066400-138066800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr3:138066400-138066800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr3:138066400-138066800	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr3:138066400-138066800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:138066400-138066800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr3:138066400-138066800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr3:138066400-138066800	Flanking Active TSS	Fetal Brain Male	brain
33	chr3:138066400-138066800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr3:138066400-138066800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr3:138066400-138066800	Active TSS	HMEC	breast
36	chr3:138066400-138067000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr3:138066400-138067200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:138066400-138067200	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr3:138066400-138067400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr3:138066400-138067400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:138066400-138067800	Active TSS	Colonic Mucosa	Colon
42	chr3:138066400-138068000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr3:138066400-138068000	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr3:138066400-138068000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr3:138066400-138068000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:138066400-138068000	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr3:138066400-138068000	Active TSS	Brain Germinal Matrix	brain
48	chr3:138066400-138068000	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr3:138066400-138068000	Active TSS	NH-A	brain
50	chr3:138066400-138068000	Active TSS	NHEK	skin

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