Variant report

Variant	rs17101180
Chromosome Location	chr1:78511960-78511961
allele	C/T
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	MAX	chr1:78511354-78512511	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr1:78511092-78512526	HepG2	liver:	n/a	n/a
3	CHD2	chr1:78511744-78512270	HepG2	liver:	n/a	n/a
4	MAX	chr1:78511431-78512476	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr1:78511034-78512680	H1-hESC	embryonic stem cell:	n/a	chr1:78512119-78512126 chr1:78511596-78511606 chr1:78512119-78512126 chr1:78512119-78512126
6	HDAC2	chr1:78511539-78512194	HepG2	liver:	n/a	n/a
7	YY1	chr1:78511499-78511981	GM12892	blood:	n/a	chr1:78511586-78511600 chr1:78511756-78511770
8	ZEB1	chr1:78511259-78512495	HepG2	liver:	n/a	n/a
9	ZEB1	chr1:78511100-78512606	HepG2	liver:	n/a	n/a
10	HNF4A	chr1:78511385-78512136	HepG2	liver:	n/a	chr1:78511701-78511716 chr1:78511701-78511716 chr1:78511701-78511716 chr1:78511700-78511715
11	MXI1	chr1:78511478-78512327	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:78511245-78512115	HepG2	liver:	n/a	n/a
13	CTCF	chr1:78511900-78512050	HBMEC	blood vessel:	n/a	n/a
14	E2F6	chr1:78511470-78512440	H1-hESC	embryonic stem cell:	n/a	chr1:78512119-78512126 chr1:78511596-78511606 chr1:78512119-78512126 chr1:78512119-78512126
15	GTF2F1	chr1:78511811-78512244	H1-hESC	embryonic stem cell:	n/a	n/a
16	HEY1	chr1:78511299-78512043	HepG2	liver:	n/a	chr1:78511757-78511772
17	ATF2	chr1:78511959-78512330	H1-hESC	embryonic stem cell:	n/a	n/a
18	TBP	chr1:78511464-78512473	H1-hESC	embryonic stem cell:	n/a	n/a
19	HNF4A	chr1:78511478-78512205	HepG2	liver:	n/a	chr1:78511701-78511716 chr1:78511701-78511716 chr1:78511701-78511716 chr1:78511700-78511715
20	MYC	chr1:78511915-78512141	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:78510895-78512622	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr1:78511279-78512489	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr1:78511381-78512236	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:78511523-78512376	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr1:78511933-78512117	H1-hESC	embryonic stem cell:	n/a	n/a
26	USF2	chr1:78511890-78512082	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:78511828-78512510	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr1:78511589-78512508	HepG2	liver:	n/a	n/a
29	HNF4G	chr1:78511451-78512004	HepG2	liver:	n/a	chr1:78511701-78511716 chr1:78511701-78511716 chr1:78511701-78511716 chr1:78511699-78511714
30	TAF7	chr1:78511523-78512158	H1-hESC	embryonic stem cell:	n/a	n/a
31	SUZ12	chr1:78510446-78512858	NT2-D1	testis:	n/a	n/a
32	MAX	chr1:78511236-78512268	HepG2	liver:	n/a	n/a
33	POLR2A	chr1:78511570-78512321	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:78511698-78512385	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr1:78511506-78512364	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:78511307-78512488	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr1:78511858-78512450	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr1:78511410-78512160	HepG2	liver:	n/a	chr1:78511586-78511600 chr1:78511756-78511770
39	HEY1	chr1:78511587-78512356	HepG2	liver:	n/a	chr1:78511757-78511772
40	BACH1	chr1:78511773-78512568	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr1:78511689-78512408	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr1:78511114-78512379	HepG2	liver:	n/a	n/a
43	POLR2A	chr1:78511428-78511966	HepG2	liver:	n/a	n/a
44	CHD2	chr1:78511870-78512376	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:78511570-78512016	HUVEC	blood vessel:	n/a	n/a
46	ZNF143	chr1:78511797-78512126	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr1:78511566-78512126	HepG2	liver:	n/a	n/a
48	MAX	chr1:78511774-78512252	SK-N-SH	brain:	n/a	n/a
49	RCOR1	chr1:78511522-78512321	HepG2	liver:	n/a	n/a
50	POLR2A	chr1:78511637-78512049	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78466099..78472038-chr1:78511575..78517585,8	K562	blood:

Variant related genes	Relation type
ENSG00000213561	TF binding region
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11589750	1.00[TSI][hapmap]
rs12727569	1.00[CEU][hapmap]
rs28362661	1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78510000-78513200	Active TSS	Pancreas	Pancrea
2	chr1:78510400-78512800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:78510400-78513000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:78510400-78513800	Flanking Active TSS	HUVEC	blood vessel
5	chr1:78510600-78512400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:78510600-78512800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:78510600-78513600	Active TSS	Right Atrium	heart
8	chr1:78510800-78512200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:78510800-78512200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr1:78510800-78512800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:78510800-78513000	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:78511000-78512000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:78511000-78512000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
14	chr1:78511000-78512000	Active TSS	Lung	lung
15	chr1:78511000-78512200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:78511000-78512200	Active TSS	Brain Substantia Nigra	brain
17	chr1:78511000-78512400	Active TSS	Psoas Muscle	Psoas
18	chr1:78511000-78512600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:78511000-78512600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr1:78511000-78512600	Bivalent/Poised TSS	Fetal Kidney	kidney
21	chr1:78511000-78512600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr1:78511000-78513000	Active TSS	Brain Anterior Caudate	brain
23	chr1:78511000-78513600	Active TSS	Right Ventricle	heart
24	chr1:78511200-78512000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:78511200-78512200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:78511200-78512200	Bivalent/Poised TSS	Fetal Stomach	stomach
27	chr1:78511200-78512400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr1:78511200-78512400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
29	chr1:78511200-78512400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr1:78511200-78512400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
31	chr1:78511200-78512400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:78511200-78512400	Active TSS	Brain Hippocampus Middle	brain
33	chr1:78511200-78512400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr1:78511200-78512400	Active TSS	HSMM	muscle
35	chr1:78511200-78512600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:78511200-78512600	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr1:78511200-78512600	Active TSS	Stomach Mucosa	stomach
38	chr1:78511200-78512800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:78511200-78513400	Active TSS	Left Ventricle	heart
40	chr1:78511400-78512000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:78511400-78512000	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr1:78511400-78512000	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:78511400-78512000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:78511400-78512000	Active TSS	Fetal Intestine Small	intestine
45	chr1:78511400-78512000	Bivalent/Poised TSS	Fetal Thymus	thymus
46	chr1:78511400-78512200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:78511400-78512200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr1:78511400-78512200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:78511400-78512200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
50	chr1:78511400-78512200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links