Variant report

Variant	rs74125914
Chromosome Location	chr1:151255679-151255680
allele	C/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	chr1:151253351-151256536	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr1:151253308-151255956	SK-N-SH	brain:	n/a	n/a
3	MAX	chr1:151253485-151256229	HepG2	liver:	n/a	chr1:151255644-151255654 chr1:151256051-151256061 chr1:151255641-151255651
4	MAZ	chr1:151253573-151256028	GM12878	blood:	n/a	chr1:151255644-151255654 chr1:151255641-151255651
5	MAX	chr1:151255429-151255764	GM12878	blood:	n/a	chr1:151255644-151255654 chr1:151255641-151255651
6	TAF1	chr1:151255659-151255973	K562	blood:	n/a	n/a
7	POLR2A	chr1:151253247-151256985	GM12878	blood:	n/a	n/a
8	ELF1	chr1:151253418-151256101	GM12878	blood:	n/a	chr1:151255831-151255844 chr1:151255378-151255390
9	POLR2A	chr1:151253367-151255932	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:151253521-151255990	GM15510	blood:	n/a	n/a
11	POLR2A	chr1:151253560-151256282	K562	blood:	n/a	n/a
12	ELF1	chr1:151255509-151256092	GM12878	blood:	n/a	chr1:151255831-151255844
13	MAX	chr1:151253298-151256115	MCF-7	breast:	n/a	chr1:151255644-151255654 chr1:151256051-151256061 chr1:151255641-151255651
14	POLR2A	chr1:151253604-151256070	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:151253503-151256043	GM18526	blood:	n/a	n/a
16	HNF4G	chr1:151255448-151256084	HepG2	liver:	n/a	chr1:151255786-151255798 chr1:151255786-151255798 chr1:151255785-151255798 chr1:151255781-151255803 chr1:151255787-151255799 chr1:151255783-151255798 chr1:151255790-151255802 chr1:151255999-151256011 chr1:151255783-151255801 chr1:151255785-151255799 chr1:151255786-151255799 chr1:151255786-151255798 chr1:151255785-151255799
17	POLR2A	chr1:151253493-151256729	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:151253453-151256021	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:151253356-151256415	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:151253401-151255926	K562	blood:	n/a	n/a
21	POLR2A	chr1:151253283-151256085	MCF-7	breast:	n/a	n/a
22	PAX5	chr1:151255651-151255958	GM12878	blood:	n/a	n/a
23	RCOR1	chr1:151255645-151255788	HepG2	liver:	n/a	n/a
24	MAZ	chr1:151253606-151256025	K562	blood:	n/a	chr1:151255644-151255654 chr1:151255641-151255651
25	POLR2A	chr1:151253495-151255959	PANC-1	pancreas:	n/a	n/a
26	ZNF263	chr1:151253359-151255856	HEK293-T-REx	kidney:	n/a	chr1:151255463-151255472 chr1:151253763-151253772 chr1:151255364-151255373
27	E2F4	chr1:151253572-151255690	K562	blood:	n/a	chr1:151255640-151255649 chr1:151253776-151253785 chr1:151253802-151253814 chr1:151253805-151253813 chr1:151254973-151254982 chr1:151253803-151253814 chr1:151255207-151255216 chr1:151253806-151253813 chr1:151253806-151253813 chr1:151253846-151253855 chr1:151253806-151253813 chr1:151255112-151255122 chr1:151253846-151253858
28	TAF1	chr1:151253357-151255779	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr1:151253538-151256270	GM12891	blood:	n/a	n/a
30	JUN	chr1:151253275-151256019	K562	blood:	n/a	chr1:151256008-151256018 chr1:151254918-151254927 chr1:151254919-151254928 chr1:151256008-151256018 chr1:151254189-151254202
31	POLR2A	chr1:151253502-151256147	GM12891	blood:	n/a	n/a
32	POLR2A	chr1:151253521-151255929	H1-hESC	embryonic stem cell:	n/a	n/a
33	PML	chr1:151253445-151255720	MCF-7	breast:	n/a	n/a
34	HEY1	chr1:151253443-151256007	K562	blood:	n/a	chr1:151255520-151255535 chr1:151255373-151255388
35	POLR2A	chr1:151253589-151255988	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:151255342-151255690	SK-N-SH	brain:	n/a	n/a
37	E2F6	chr1:151253384-151255832	A549	lung:	n/a	chr1:151255640-151255649 chr1:151253776-151253785 chr1:151253802-151253814 chr1:151253805-151253813 chr1:151254973-151254982 chr1:151255207-151255216 chr1:151253806-151253813 chr1:151253806-151253813 chr1:151253846-151253855 chr1:151253803-151253814 chr1:151253806-151253813 chr1:151255112-151255122 chr1:151253846-151253858
38	ZBTB7A	chr1:151254593-151255892	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr1:151253458-151255892	SK-N-MC	brain:	n/a	n/a
40	HNF4A	chr1:151255622-151255950	HepG2	liver:	n/a	chr1:151255786-151255798 chr1:151255786-151255798 chr1:151255785-151255798 chr1:151255781-151255803 chr1:151255787-151255799 chr1:151255790-151255802 chr1:151255784-151255799 chr1:151255783-151255801 chr1:151255785-151255799 chr1:151255786-151255799 chr1:151255786-151255798 chr1:151255785-151255799
41	POLR2A	chr1:151253457-151256217	HL-60	blood:	n/a	n/a
42	POLR2A	chr1:151253636-151255994	GM12878	blood:	n/a	n/a
43	NR2F2	chr1:151255287-151256235	K562	blood:	n/a	chr1:151255999-151256014
44	POLR2A	chr1:151253470-151256391	GM12891	blood:	n/a	n/a
45	RUNX3	chr1:151255526-151256239	GM12878	blood:	n/a	n/a
46	TAF1	chr1:151253455-151255766	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:151253517-151255886	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr1:151253459-151255909	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr1:151253411-151256493	K562	blood:	n/a	n/a
50	POLR2A	chr1:151253514-151255998	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151252318..151256662-chr1:151278805..151282568,3	MCF-7	breast:
2	chr1:151236628..151240261-chr1:151252418..151256646,5	K562	blood:
3	chr1:151234999..151238320-chr1:151251915..151256083,5	MCF-7	breast:
4	chr1:151230341..151233216-chr1:151253682..151256078,3	MCF-7	breast:
5	chr1:151254308..151256785-chr1:151512305..151514288,3	MCF-7	breast:
6	chr1:151253853..151259248-chr1:151295350..151301325,11	K562	blood:
7	chr1:151254636..151256899-chr1:151735426..151737662,3	MCF-7	breast:
8	chr1:151165541..151174157-chr1:151252015..151257857,16	MCF-7	breast:
9	chr1:151253871..151256135-chr1:151314130..151317235,4	K562	blood:
10	chr1:151255364..151257714-chr1:151311945..151313643,2	MCF-7	breast:
11	chr1:151254429..151257729-chr1:151370560..151375073,7	MCF-7	breast:
12	chr1:151161155..151162888-chr1:151254618..151258389,3	MCF-7	breast:
13	chr1:151252184..151258894-chr1:151295105..151301119,15	MCF-7	breast:
14	chr1:151254330..151257054-chr1:151298258..151300253,2	K562	blood:
15	chr1:151168724..151174586-chr1:151252405..151256834,10	MCF-7	breast:
16	chr1:151254480..151256114-chr6:26019497..26022258,2	MCF-7	breast:
17	1:151254384-151268403..1:151402394-151411623	GM12878	blood:
18	chr1:151253109..151257431-chr1:151311446..151315369,6	MCF-7	breast:
19	chr1:151161802..151163461-chr1:151255250..151256972,2	MCF-7	breast:
20	chr1:151162643..151164803-chr1:151253771..151256720,2	K562	blood:
21	chr1:151252229..151256416-chr1:151370480..151373573,6	MCF-7	breast:
22	chr1:151241727..151244431-chr1:151255120..151256643,2	MCF-7	breast:
23	chr1:151254955..151256703-chr1:151342401..151344632,2	MCF-7	breast:
24	chr1:151225526..151228725-chr1:151252382..151257550,9	K562	blood:
25	chr1:151042356..151044958-chr1:151252271..151256325,4	K562	blood:
26	chr1:151253042..151255866-chr1:151318395..151322175,4	K562	blood:
27	chr1:151253682..151256795-chr1:151298712..151301104,5	MCF-7	breast:
28	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
29	1:151171193-151178589..1:151254384-151268403	Hela-S3	cervix:
30	chr1:151253485..151255699-chr1:151429417..151432153,4	K562	blood:
31	chr1:151252692..151257354-chr1:151370358..151373702,7	K562	blood:
32	chr1:151253402..151256437-chr1:151318501..151320102,3	MCF-7	breast:
33	chr1:150954083..150955944-chr1:151254218..151255800,2	MCF-7	breast:
34	chr1:151254608..151256601-chr11:68517893..68520689,2	MCF-7	breast:
35	chr1:151222463..151229121-chr1:151253476..151256667,10	MCF-7	breast:
36	chr1:151225998..151229280-chr1:151252382..151256725,6	K562	blood:
37	chr1:151224415..151228832-chr1:151251866..151257138,17	MCF-7	breast:
38	chr1:151252566..151256216-chr1:151370228..151373702,9	K562	blood:

Variant related genes	Relation type
ENSG00000232671	TF binding region
ZNF687	TF binding region
ENSG00000197622	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143412	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000224645	Chromatin interaction
ENSG00000132749	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143393	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs74125915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127537	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
4	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151253200-151256000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:151253400-151255800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151253400-151255800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr1:151253400-151255800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:151253400-151255800	Active TSS	Brain Cingulate Gyrus	brain
6	chr1:151253400-151255800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr1:151253400-151255800	Active TSS	Placenta Amnion	Placenta Amnion
8	chr1:151253400-151255800	Active TSS	HSMM	muscle
9	chr1:151253400-151256000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:151253400-151256000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:151253400-151256000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:151253400-151256000	Active TSS	Colon Smooth Muscle	Colon
13	chr1:151253400-151256000	Active TSS	Psoas Muscle	Psoas
14	chr1:151253400-151256000	Active TSS	NHLF	lung
15	chr1:151253400-151256200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:151253400-151256200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:151253400-151256200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:151253400-151256200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:151253400-151256200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:151253400-151256200	Active TSS	HSMMtube	muscle
21	chr1:151253400-151256400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:151253400-151256600	Active TSS	A549	lung
23	chr1:151253400-151256800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:151253600-151255800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:151253600-151255800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:151253600-151255800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:151253600-151255800	Active TSS	Brain Substantia Nigra	brain
28	chr1:151253600-151255800	Active TSS	Thymus	Thymus
29	chr1:151253600-151255800	Active TSS	K562	blood
30	chr1:151253600-151256000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:151253600-151256000	Active TSS	Fetal Kidney	kidney
32	chr1:151253600-151256000	Active TSS	Osteobl	bone
33	chr1:151253600-151256200	Active TSS	Brain Anterior Caudate	brain
34	chr1:151253800-151255800	Active TSS	Duodenum Mucosa	Duodenum
35	chr1:151253800-151255800	Active TSS	Stomach Mucosa	stomach
36	chr1:151253800-151256000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:151253800-151256000	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr1:151253800-151256000	Active TSS	Gastric	stomach
39	chr1:151253800-151256200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:151253800-151256200	Active TSS	Fetal Intestine Large	intestine
41	chr1:151253800-151256200	Active TSS	Fetal Intestine Small	intestine
42	chr1:151254000-151255800	Active TSS	Aorta	Aorta
43	chr1:151254000-151255800	Active TSS	Fetal Heart	heart
44	chr1:151254000-151256200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:151254000-151256200	Active TSS	Ovary	ovary
46	chr1:151254000-151256200	Active TSS	NHDF-Ad	bronchial
47	chr1:151254200-151255800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:151254400-151255800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:151254400-151256000	Active TSS	Rectal Smooth Muscle	rectum
50	chr1:151255000-151256600	Flanking Active TSS	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links