Variant report

Variant	rs62372102
Chromosome Location	chr5:60139881-60139882
allele	A/G
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	POLR2A	chr5:60139846-60140645	MCF10A-Er-Src	breast:	n/a	n/a
2	HEY1	chr5:60139863-60140165	K562	blood:	n/a	chr5:60140010-60140025
3	POLR2A	chr5:60139735-60140532	ECC-1	luminal epithelium:	n/a	n/a
4	YY1	chr5:60139861-60140158	GM12891	blood:	n/a	n/a
5	MXI1	chr5:60139413-60140458	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:60139845-60140471	Hela-S3	cervix:	n/a	n/a
7	JUND	chr5:60139836-60140465	A549	lung:	n/a	chr5:60139981-60139989 chr5:60140432-60140442 chr5:60140431-60140442
8	CTCF	chr5:60139853-60140253	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr5:60139800-60140435	MCF-7	breast:	n/a	n/a
10	MAX	chr5:60139598-60140248	A549	lung:	n/a	n/a
11	BHLHE40	chr5:60139857-60140324	GM12878	blood:	n/a	n/a
12	RAD21	chr5:60139852-60140273	HepG2	liver:	n/a	n/a
13	CTBP2	chr5:60138947-60140770	H1-hESC	embryonic stem cell:	n/a	n/a
14	PML	chr5:60139798-60140283	MCF-7	breast:	n/a	n/a
15	SIN3AK20	chr5:60139737-60140258	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr5:60139779-60140405	K562	blood:	n/a	n/a
17	JUND	chr5:60139139-60139881	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr5:60139197-60140767	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr5:60139765-60140608	H1-hESC	embryonic stem cell:	n/a	n/a
20	HDAC2	chr5:60139029-60140277	MCF-7	breast:	n/a	chr5:60139427-60139441 chr5:60140047-60140056
21	MAX	chr5:60139764-60140469	K562	blood:	n/a	chr5:60140433-60140442
22	POLR2A	chr5:60139880-60140158	A549	lung:	n/a	n/a
23	TCF3	chr5:60139840-60140350	GM12878	blood:	n/a	n/a
24	MAX	chr5:60139852-60140618	Hela-S3	cervix:	n/a	chr5:60140433-60140442
25	E2F4	chr5:60139807-60140224	MCF10A-Er-Src	breast:	n/a	chr5:60140017-60140029
26	CREB1	chr5:60139844-60140608	GM12878	blood:	n/a	n/a
27	REST	chr5:60139800-60140712	H1-neurons	neurons:	n/a	chr5:60140484-60140497 chr5:60139806-60139819 chr5:60139813-60139823 chr5:60140078-60140091 chr5:60139828-60139838 chr5:60139806-60139819
28	POLR2A	chr5:60139716-60140446	K562	blood:	n/a	n/a
29	E2F6	chr5:60139871-60140339	K562	blood:	n/a	chr5:60140017-60140029
30	ZNF263	chr5:60138742-60140637	HEK293-T-REx	kidney:	n/a	chr5:60139323-60139332 chr5:60140107-60140116
31	MAX	chr5:60139866-60140455	K562	blood:	n/a	chr5:60140433-60140442
32	PML	chr5:60139811-60140208	MCF-7	breast:	n/a	n/a
33	PAX5	chr5:60139861-60140109	GM12878	blood:	n/a	chr5:60140046-60140055
34	ZNF143	chr5:60139766-60140694	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr5:60139871-60140633	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZNF263	chr5:60139250-60140300	K562	blood:	n/a	chr5:60139323-60139332 chr5:60140107-60140116
37	POLR2A	chr5:60139835-60140162	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr5:60139678-60141218	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr5:60139451-60140500	MCF-7	breast:	n/a	n/a
40	POLR2A	chr5:60139782-60140170	K562	blood:	n/a	n/a
41	CTCF	chr5:60139778-60140398	K562	blood:	n/a	n/a
42	BHLHE40	chr5:60139760-60140304	HepG2	liver:	n/a	chr5:60139813-60139829
43	CREB1	chr5:60139842-60140732	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr5:60139872-60140157	A549	lung:	n/a	n/a
45	POLR2A	chr5:60139771-60140539	HCT-116	colon:	n/a	n/a
46	ZEB1	chr5:60139812-60140265	GM12878	blood:	n/a	n/a
47	CREB1	chr5:60139512-60140682	HepG2	liver:	n/a	n/a
48	ELF1	chr5:60139231-60140204	GM12878	blood:	n/a	chr5:60140067-60140079
49	SMC3	chr5:60139869-60140688	Hela-S3	cervix:	n/a	n/a
50	MAX	chr5:60139742-60140586	ECC-1	luminal epithelium:	n/a	chr5:60140433-60140442

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60138467..60140103-chr5:60240605..60242461,2	MCF-7	breast:

Variant related genes	Relation type
ELOVL7	TF binding region
ENSG00000164182	Chromatin interaction
ENSG00000049167	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1021005	0.88[ASN][1000 genomes]
rs11740632	0.87[ASN][1000 genomes]
rs12652878	0.88[ASN][1000 genomes]
rs12654306	0.88[ASN][1000 genomes]
rs12655603	0.86[ASN][1000 genomes]
rs17332824	0.88[ASN][1000 genomes]
rs17392014	0.88[ASN][1000 genomes]
rs1807017	0.84[EUR][1000 genomes]
rs2120956	0.82[ASN][1000 genomes]
rs2120957	0.88[ASN][1000 genomes]
rs34741733	0.89[ASN][1000 genomes]
rs3797559	0.84[ASN][1000 genomes]
rs4647132	0.88[ASN][1000 genomes]
rs4647137	0.89[ASN][1000 genomes]
rs4647150	0.87[ASN][1000 genomes]
rs4700397	0.89[ASN][1000 genomes]
rs4700399	0.87[ASN][1000 genomes]
rs58078456	0.85[ASN][1000 genomes]
rs60858663	0.86[ASN][1000 genomes]
rs61101592	0.88[ASN][1000 genomes]
rs62372103	0.87[ASN][1000 genomes]
rs62372133	0.86[ASN][1000 genomes]
rs62372134	0.86[ASN][1000 genomes]
rs67555188	0.87[ASN][1000 genomes]
rs67858932	0.87[ASN][1000 genomes]
rs6884966	0.88[ASN][1000 genomes]
rs7701398	0.88[ASN][1000 genomes]
rs7722373	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9687099	0.88[ASN][1000 genomes]
rs976630	0.84[ASN][1000 genomes]
rs976631	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2763456	chr5:60007355-60151767	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1026190	chr5:60020156-60148535	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv537769	chr5:60020156-60148535	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv881712	chr5:60116613-60266875	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv881713	chr5:60116613-60305125	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv598305	chr5:60116613-60308836	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv881714	chr5:60116613-60313015	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv598306	chr5:60129361-60266875	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv598307	chr5:60129361-60308836	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv881716	chr5:60129361-60313015	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv462200	chr5:60135985-60266875	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv598309	chr5:60135985-60266875	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv598310	chr5:60135985-60308836	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv598311	chr5:60136626-60308836	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62372102	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60137400-60140600	Active TSS	Brain Hippocampus Middle	brain
2	chr5:60138000-60140800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:60138200-60140400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:60138200-60140800	Active TSS	Brain Substantia Nigra	brain
5	chr5:60138400-60140400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr5:60138400-60140800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:60138400-60140800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:60138400-60140800	Active TSS	Right Atrium	heart
9	chr5:60138400-60141200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr5:60138600-60140400	Bivalent/Poised TSS	Small Intestine	intestine
11	chr5:60138600-60140600	Active TSS	Pancreas	Pancrea
12	chr5:60138600-60141000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:60138800-60140000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:60138800-60140400	Bivalent/Poised TSS	HepG2	liver
15	chr5:60138800-60140600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
16	chr5:60138800-60141000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr5:60139000-60140000	Bivalent/Poised TSS	Thymus	Thymus
18	chr5:60139000-60140000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
19	chr5:60139000-60140400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:60139000-60140400	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr5:60139000-60140600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:60139000-60140600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:60139000-60140600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr5:60139000-60140600	Active TSS	Brain Cingulate Gyrus	brain
25	chr5:60139000-60140600	Active TSS	Gastric	stomach
26	chr5:60139000-60140600	Bivalent/Poised TSS	NHDF-Ad	bronchial
27	chr5:60139000-60140800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:60139000-60140800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:60139000-60140800	Active TSS	Brain Angular Gyrus	brain
30	chr5:60139200-60140000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
31	chr5:60139200-60140000	Bivalent/Poised TSS	Aorta	Aorta
32	chr5:60139200-60140200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
33	chr5:60139200-60140200	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr5:60139200-60140400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr5:60139200-60140400	Active TSS	Brain Anterior Caudate	brain
36	chr5:60139200-60140400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:60139200-60140400	Active TSS	Fetal Kidney	kidney
38	chr5:60139200-60140400	Active TSS	GM12878-XiMat	blood
39	chr5:60139200-60140600	Flanking Active TSS	Right Ventricle	heart
40	chr5:60139200-60140600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
41	chr5:60139200-60140600	Active TSS	A549	lung
42	chr5:60139200-60140600	Bivalent/Poised TSS	HSMM	muscle
43	chr5:60139200-60140600	Bivalent/Poised TSS	HSMMtube	muscle
44	chr5:60139200-60140800	Active TSS	Esophagus	oesophagus
45	chr5:60139200-60140800	Bivalent/Poised TSS	Fetal Lung	lung
46	chr5:60139200-60140800	Active TSS	HMEC	breast
47	chr5:60139200-60141000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr5:60139200-60141000	Active TSS	H9 Cell Line	embryonic stem cell
49	chr5:60139400-60140000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:60139400-60140000	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--

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