Variant report

Variant	rs374895029
Chromosome Location	chr1:155657353-155657354
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF4	chr1:155657217-155658041	GM12878	blood:	n/a	n/a
2	HEY1	chr1:155657296-155657958	K562	blood:	n/a	n/a
3	POLR2A	chr1:155657022-155659399	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:155657313-155659921	SK-N-MC	brain:	n/a	n/a
5	POU2F2	chr1:155657229-155659302	GM12891	blood:	n/a	n/a
6	POLR2A	chr1:155656131-155659454	GM12878	blood:	n/a	n/a
7	POU2F2	chr1:155657218-155659223	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:155657249-155657495	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:155657122-155659540	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:155656935-155659427	GM12892	blood:	n/a	n/a
11	POLR2A	chr1:155657226-155659289	ProgFib	skin:	n/a	n/a
12	POLR2A	chr1:155657130-155659466	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:155657270-155659425	GM12892	blood:	n/a	n/a
14	POLR2A	chr1:155657243-155659320	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:155657029-155659995	GM12892	blood:	n/a	n/a
16	MYBL2	chr1:155657063-155657864	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:155657296-155659536	HepG2	liver:	n/a	n/a
18	BCL11A	chr1:155657352-155657700	GM12878	blood:	n/a	n/a
19	HEY1	chr1:155656901-155659481	K562	blood:	n/a	n/a
20	PAX5	chr1:155657134-155658017	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:155657274-155659289	MCF-7	breast:	n/a	n/a
22	SP1	chr1:155657286-155657881	GM12878	blood:	n/a	chr1:155657728-155657742 chr1:155657729-155657738 chr1:155657635-155657649
23	POLR2A	chr1:155656959-155657893	GM12891	blood:	n/a	n/a
24	IRF4	chr1:155657180-155658111	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:155656955-155659480	GM12891	blood:	n/a	n/a
26	POU2F2	chr1:155657330-155659223	GM12891	blood:	n/a	n/a
27	FOXM1	chr1:155657304-155659376	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:155657223-155659295	GM12878	blood:	n/a	n/a
29	NR2F2	chr1:155657248-155659462	K562	blood:	n/a	n/a
30	POLR2A	chr1:155656332-155659469	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:155656320-155660418	GM12892	blood:	n/a	n/a
32	POLR2A	chr1:155657224-155659369	K562	blood:	n/a	n/a
33	POLR2A	chr1:155657243-155659342	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:155621509..155623036-chr1:155655478..155657409,2	K562	blood:
2	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
3	chr1:155656761..155658571-chr1:155822378..155824933,2	K562	blood:
4	chr1:155650232..155654143-chr1:155656732..155660370,8	MCF-7	breast:
5	chr1:155530812..155532531-chr1:155657028..155659724,4	K562	blood:
6	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
7	chr1:155649685..155651482-chr1:155656249..155657899,2	MCF-7	breast:

No data

Variant related genes	Relation type
DAP3	TF binding region
ENSG00000116580	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000116539	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS 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	34 gene(s)	inside rSNPs	diseases
11	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
12	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv3054	chr1:155653835-155673509	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
14	nsv946421	chr1:155656230-155659076	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155627000-155657600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155634600-155657800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155646600-155657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:155650000-155657400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:155650000-155657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:155650200-155657400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:155650800-155657400	Weak transcription	Placenta	Placenta
8	chr1:155653800-155657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:155654000-155657400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:155654000-155657400	Weak transcription	Esophagus	oesophagus
11	chr1:155654000-155657600	Weak transcription	Small Intestine	intestine
12	chr1:155654600-155657600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:155655400-155659600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:155656200-155657600	Weak transcription	Lung	lung
15	chr1:155656200-155657800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:155656200-155659800	Active TSS	HSMMtube	muscle
17	chr1:155656200-155659800	Active TSS	NHDF-Ad	bronchial
18	chr1:155656200-155660000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:155656200-155660200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:155656400-155657400	Weak transcription	Gastric	stomach
21	chr1:155656400-155657600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:155656400-155657800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:155656400-155658200	Active TSS	Right Atrium	heart
24	chr1:155656400-155659200	Active TSS	Primary T cells from cord blood	blood
25	chr1:155656400-155659200	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr1:155656400-155659400	Active TSS	Ovary	ovary
27	chr1:155656400-155659600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:155656400-155659800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:155656400-155659800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:155656400-155659800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:155656400-155659800	Active TSS	Thymus	Thymus
32	chr1:155656400-155659800	Active TSS	GM12878-XiMat	blood
33	chr1:155656400-155660000	Active TSS	Fetal Kidney	kidney
34	chr1:155656400-155660200	Active TSS	HSMM	muscle
35	chr1:155656400-155660200	Active TSS	NHLF	lung
36	chr1:155656400-155660400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:155656600-155657400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:155656600-155657400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:155656600-155657400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:155656600-155657400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:155656600-155657400	Weak transcription	Liver	Liver
42	chr1:155656600-155657400	Weak transcription	Brain Angular Gyrus	brain
43	chr1:155656600-155657400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:155656600-155657400	Weak transcription	Colonic Mucosa	Colon
45	chr1:155656600-155657400	Weak transcription	Fetal Brain Male	brain
46	chr1:155656600-155657400	Weak transcription	Fetal Stomach	stomach
47	chr1:155656600-155657400	Weak transcription	Left Ventricle	heart
48	chr1:155656600-155657400	Weak transcription	Pancreas	Pancrea
49	chr1:155656600-155657400	Weak transcription	Right Ventricle	heart
50	chr1:155656600-155657600	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links