Variant report

Variant	rs3811794
Chromosome Location	chr4:152682397-152682398
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	ETS1	chr4:152681806-152682477	K562	blood:	n/a	chr4:152682191-152682204 chr4:152682190-152682203
2	POLR2A	chr4:152681911-152682666	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr4:152682320-152682470	HMF	breast:	n/a	n/a
4	JUN	chr4:152681979-152682525	K562	blood:	n/a	chr4:152682157-152682167 chr4:152682158-152682166 chr4:152682482-152682491 chr4:152682157-152682167 chr4:152682157-152682167
5	STAT5A	chr4:152681803-152682570	GM12878	blood:	n/a	chr4:152682340-152682352 chr4:152682510-152682517 chr4:152682186-152682210
6	SP4	chr4:152681861-152682727	H1-hESC	embryonic stem cell:	n/a	chr4:152682296-152682307 chr4:152682321-152682332
7	TCF12	chr4:152681826-152682556	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr4:152682300-152682450	GM12864	blood:	n/a	n/a
9	NFATC1	chr4:152681933-152682476	GM12878	blood:	n/a	n/a
10	GABPA	chr4:152681807-152682570	HL-60	blood:	n/a	n/a
11	MAX	chr4:152681874-152682605	MCF-7	breast:	n/a	n/a
12	CHD2	chr4:152681997-152682568	K562	blood:	n/a	n/a
13	YY1	chr4:152681683-152682466	SK-N-SH_RA	brain:	n/a	chr4:152682126-152682138
14	ZBTB7A	chr4:152682205-152682461	K562	blood:	n/a	n/a
15	CTCF	chr4:152682280-152682430	GM12869	blood:	n/a	n/a
16	POLR2A	chr4:152681912-152682487	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr4:152682300-152682450	HAc	cerebellar:	n/a	n/a
18	YY1	chr4:152681742-152682502	GM12891	blood:	n/a	chr4:152682126-152682138
19	CTCF	chr4:152682260-152682410	GM12865	blood:	n/a	n/a
20	POLR2A	chr4:152681580-152682760	Raji	blood:	n/a	n/a
21	USF1	chr4:152681923-152682457	A549	lung:	n/a	chr4:152682151-152682162 chr4:152682147-152682168
22	RAD21	chr4:152682016-152682523	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr4:152682340-152682490	HFF-Myc	foreskin:	n/a	n/a
24	MAZ	chr4:152681762-152682672	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:152681820-152682589	PFSK-1	brain:	n/a	n/a
26	CTCF	chr4:152682340-152682490	HCT-116	colon:	n/a	n/a
27	POLR2A	chr4:152681737-152682705	HUVEC	blood vessel:	n/a	n/a
28	MAFK	chr4:152681888-152682633	K562	blood:	n/a	chr4:152682566-152682577 chr4:152682567-152682578 chr4:152682563-152682573 chr4:152682567-152682578 chr4:152682566-152682577
29	CTCF	chr4:152682280-152682430	AG09309	skin:	n/a	n/a
30	SIX5	chr4:152681976-152682418	K562	blood:	n/a	n/a
31	HDAC2	chr4:152681968-152682486	HepG2	liver:	n/a	n/a
32	CTCF	chr4:152682280-152682430	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr4:152681855-152682624	GM18951	blood:	n/a	n/a
34	MAX	chr4:152681944-152682609	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUND	chr4:152681932-152682401	H1-hESC	embryonic stem cell:	n/a	chr4:152682157-152682167 chr4:152682156-152682167 chr4:152682158-152682166 chr4:152682157-152682167 chr4:152682157-152682167
36	POLR2A	chr4:152682285-152682513	HepG2	liver:	n/a	n/a
37	CTCF	chr4:152682258-152682485	Fibrobl	skin:	n/a	n/a
38	SP1	chr4:152681786-152682423	A549	lung:	n/a	chr4:152682296-152682307 chr4:152682321-152682332
39	CTCF	chr4:152682260-152682410	AG09309	skin:	n/a	n/a
40	ZMIZ1	chr4:152681933-152682647	K562	blood:	n/a	n/a
41	POLR2A	chr4:152681778-152682503	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr4:152682300-152682450	GM06990	blood:	n/a	n/a
43	MAX	chr4:152681792-152682664	ECC-1	luminal epithelium:	n/a	n/a
44	ELF1	chr4:152681846-152682603	MCF-7	breast:	n/a	n/a
45	TAF1	chr4:152681750-152682428	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr4:152682222-152682460	GM12878	blood:	n/a	n/a
47	CTCF	chr4:152682260-152682410	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr4:152682260-152682410	HMF	breast:	n/a	n/a
49	CTCF	chr4:152682260-152682410	GM12866	blood:	n/a	n/a
50	CTCF	chr4:152682280-152682430	HPAF	blood vessel:	n/a	n/a

Variant related genes	Relation type
PET112	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10016160	0.86[AFR][1000 genomes]
rs10222838	0.94[AFR][1000 genomes]
rs10222925	0.94[AFR][1000 genomes]
rs1877185	0.88[AFR][1000 genomes]
rs2089811	0.94[AFR][1000 genomes]
rs2175409	0.83[AFR][1000 genomes]
rs6535822	0.90[AFR][1000 genomes]
rs6855883	0.94[AFR][1000 genomes]
rs7654294	0.92[AFR][1000 genomes]
rs7675818	0.85[AFR][1000 genomes]
rs867800	0.91[AFR][1000 genomes]

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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv4552	chr4:152681211-152702457	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv964732	chr4:152682015-152696175	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152681000-152682400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr4:152681000-152682400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr4:152681000-152683000	Active TSS	HepG2	liver
4	chr4:152681200-152682400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr4:152681200-152682400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:152681200-152682400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr4:152681200-152682400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:152681200-152682400	Active TSS	K562	blood
9	chr4:152681200-152682600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:152681200-152682600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr4:152681200-152682600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr4:152681200-152682600	Active TSS	Fetal Intestine Large	intestine
13	chr4:152681200-152682600	Active TSS	Rectal Smooth Muscle	rectum
14	chr4:152681200-152682800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:152681200-152682800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:152681200-152682800	Active TSS	Fetal Brain Female	brain
17	chr4:152681200-152682800	Active TSS	Psoas Muscle	Psoas
18	chr4:152681200-152682800	Active TSS	NHDF-Ad	bronchial
19	chr4:152681200-152682800	Active TSS	NHLF	lung
20	chr4:152681400-152682400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr4:152681400-152682400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:152681400-152682400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:152681400-152682400	Active TSS	Hela-S3	cervix
24	chr4:152681400-152682600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:152681400-152682600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr4:152681400-152682600	Active TSS	Esophagus	oesophagus
27	chr4:152681400-152682600	Active TSS	Lung	lung
28	chr4:152681400-152682600	Active TSS	A549	lung
29	chr4:152681400-152682800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:152681400-152682800	Active TSS	Fetal Muscle Trunk	muscle
31	chr4:152681400-152682800	Active TSS	Pancreas	Pancrea
32	chr4:152681600-152682400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:152681600-152682400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:152681600-152682400	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr4:152681600-152682400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr4:152681600-152682400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr4:152681600-152682400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:152681600-152682400	Active TSS	Fetal Heart	heart
39	chr4:152681600-152682400	Active TSS	Fetal Stomach	stomach
40	chr4:152681600-152682400	Active TSS	Small Intestine	intestine
41	chr4:152681600-152682400	Active TSS	GM12878-XiMat	blood
42	chr4:152681600-152682400	Active TSS	HMEC	breast
43	chr4:152681600-152682400	Active TSS	HSMM	muscle
44	chr4:152681600-152682400	Active TSS	NHEK	skin
45	chr4:152681600-152682600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:152681600-152682600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:152681600-152682600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:152681600-152682600	Active TSS	Brain Germinal Matrix	brain
49	chr4:152681600-152682600	Active TSS	Colon Smooth Muscle	Colon
50	chr4:152681600-152682600	Active TSS	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links