Variant report

Variant	rs4235264
Chromosome Location	chr4:8317404-8317405
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	EP300	chr4:8317087-8318549	ECC-1	luminal epithelium:	n/a	n/a
2	RAD21	chr4:8317377-8317944	Hela-S3	cervix:	n/a	chr4:8317405-8317415 chr4:8317599-8317613 chr4:8317457-8317467
3	SIN3AK20	chr4:8317169-8318173	MCF-7	breast:	n/a	n/a
4	CTCF	chr4:8317360-8317510	MCF-7	breast:	n/a	n/a
5	E2F6	chr4:8317352-8318270	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr4:8317343-8317990	Hela-S3	cervix:	n/a	chr4:8317869-8317879
7	TEAD4	chr4:8317165-8318389	ECC-1	luminal epithelium:	n/a	n/a
8	SMC3	chr4:8317284-8318097	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr4:8317170-8318061	Hela-S3	cervix:	n/a	n/a
10	HA-E2F1	chr4:8317258-8317882	MCF-7	breast:	n/a	n/a
11	EP300	chr4:8317232-8318223	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr4:8317354-8318140	A549	lung:	n/a	n/a
13	SMARCC1	chr4:8317214-8318097	Hela-S3	cervix:	n/a	chr4:8317494-8317503
14	MYC	chr4:8317388-8317631	MCF-7	breast:	n/a	n/a
15	MYC	chr4:8317325-8317683	MCF-7	breast:	n/a	n/a
16	NR2F2	chr4:8317323-8318116	MCF-7	breast:	n/a	n/a
17	CTCF	chr4:8317400-8317690	BJ	skin:	n/a	n/a
18	EP300	chr4:8317289-8318427	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr4:8317277-8318015	ECC-1	luminal epithelium:	n/a	chr4:8317748-8317763
20	NR3C1	chr4:8317341-8317913	ECC-1	luminal epithelium:	n/a	chr4:8317831-8317840
21	USF1	chr4:8317404-8317628	SK-N-SH_RA	brain:	n/a	n/a
22	TCF12	chr4:8317063-8318615	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr4:8317376-8318081	SK-N-SH	brain:	n/a	chr4:8317869-8317879
24	CEBPB	chr4:8317238-8318062	ECC-1	luminal epithelium:	n/a	chr4:8317759-8317771 chr4:8317373-8317385
25	BHLHE40	chr4:8317142-8317955	HepG2	liver:	n/a	n/a
26	E2F6	chr4:8317209-8317947	A549	lung:	n/a	n/a
27	MAX	chr4:8317171-8318113	HCT-116	colon:	n/a	chr4:8317869-8317879
28	MAX	chr4:8317168-8318115	HCT-116	colon:	n/a	chr4:8317869-8317879
29	YY1	chr4:8317250-8318244	ECC-1	luminal epithelium:	n/a	chr4:8317472-8317481
30	MAX	chr4:8317021-8318246	ECC-1	luminal epithelium:	n/a	chr4:8317869-8317879
31	POLR2A	chr4:8317329-8318120	Hela-S3	cervix:	n/a	n/a
32	MAX	chr4:8317195-8318081	MCF-7	breast:	n/a	chr4:8317869-8317879
33	NR3C1	chr4:8317355-8317953	ECC-1	luminal epithelium:	n/a	chr4:8317831-8317840
34	NR2F2	chr4:8317290-8317992	MCF-7	breast:	n/a	n/a
35	MYC	chr4:8317241-8318008	Hela-S3	cervix:	n/a	chr4:8317869-8317879
36	NR3C1	chr4:8317022-8317747	A549	lung:	n/a	n/a
37	MAX	chr4:8317121-8318014	MCF-7	breast:	n/a	chr4:8317869-8317879
38	MAX	chr4:8317350-8318045	Hela-S3	cervix:	n/a	chr4:8317869-8317879
39	MYC	chr4:8317285-8317954	A549	lung:	n/a	chr4:8317869-8317879
40	FOXM1	chr4:8317292-8318266	ECC-1	luminal epithelium:	n/a	n/a
41	NFIC	chr4:8317144-8318427	ECC-1	luminal epithelium:	n/a	n/a
42	TCF12	chr4:8317115-8318613	ECC-1	luminal epithelium:	n/a	n/a
43	BHLHE40	chr4:8317095-8317954	K562	blood:	n/a	n/a
44	HDAC2	chr4:8317343-8317972	MCF-7	breast:	n/a	n/a
45	MAX	chr4:8317089-8318350	ECC-1	luminal epithelium:	n/a	chr4:8317869-8317879
46	MXI1	chr4:8317393-8318010	Hela-S3	cervix:	n/a	n/a
47	ESR1	chr4:8317301-8318345	ECC-1	luminal epithelium:	n/a	chr4:8317748-8317763
48	MAX	chr4:8317307-8318086	SK-N-SH	brain:	n/a	chr4:8317869-8317879
49	HDAC2	chr4:8317349-8317689	HepG2	liver:	n/a	n/a
50	NR3C1	chr4:8317004-8317754	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8315694..8318647-chr4:8336893..8339393,2	K562	blood:
2	chr4:8306129..8312354-chr4:8314662..8318399,6	MCF-7	breast:
3	chr4:8312041..8314245-chr4:8317234..8319161,2	K562	blood:
4	chr4:8183603..8185806-chr4:8316475..8318494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249145	TF binding region
ENSG00000248986	TF binding region
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10023502	0.95[ASN][1000 genomes]
rs10029934	0.96[ASN][1000 genomes]
rs13435482	0.81[ASN][1000 genomes]
rs28664747	0.88[ASN][1000 genomes]
rs28668483	0.91[ASN][1000 genomes]
rs4235260	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4235261	0.96[ASN][1000 genomes]
rs4235262	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4286505	0.88[ASN][1000 genomes]
rs4498118	0.88[ASN][1000 genomes]
rs4588439	0.88[ASN][1000 genomes]
rs4629434	0.89[ASN][1000 genomes]
rs4696679	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4696680	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696682	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696684	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696806	0.96[ASN][1000 genomes]
rs62286507	0.90[ASN][1000 genomes]
rs62286509	0.85[ASN][1000 genomes]
rs62286511	0.90[ASN][1000 genomes]
rs6818156	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv461218	chr4:8254784-8320126	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv593628	chr4:8254784-8320126	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8311800-8320800	Weak transcription	Psoas Muscle	Psoas
2	chr4:8316400-8318800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:8316600-8317800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr4:8316600-8318600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:8316600-8318600	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:8316600-8319000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:8316600-8319000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr4:8316600-8319200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:8316600-8321000	Enhancers	Fetal Heart	heart
10	chr4:8316800-8317800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:8316800-8318000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:8316800-8318200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:8316800-8318200	Enhancers	Fetal Intestine Large	intestine
14	chr4:8316800-8318400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:8316800-8318400	Enhancers	Left Ventricle	heart
16	chr4:8316800-8318600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:8316800-8318600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:8316800-8318800	Enhancers	Fetal Muscle Leg	muscle
19	chr4:8316800-8318800	Enhancers	Thymus	Thymus
20	chr4:8316800-8319000	Enhancers	Ovary	ovary
21	chr4:8316800-8319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:8316800-8319200	Enhancers	Fetal Thymus	thymus
23	chr4:8316800-8319400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr4:8317000-8317600	Enhancers	Fetal Kidney	kidney
25	chr4:8317000-8318000	Enhancers	Fetal Lung	lung
26	chr4:8317000-8318200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:8317000-8318200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:8317000-8318200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:8317000-8318400	Enhancers	Fetal Intestine Small	intestine
30	chr4:8317000-8318600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:8317000-8318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:8317000-8318600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:8317000-8318600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:8317000-8318600	Enhancers	Fetal Stomach	stomach
35	chr4:8317000-8318600	Enhancers	NHLF	lung
36	chr4:8317000-8318800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:8317000-8319000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:8317200-8317600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr4:8317200-8317600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr4:8317200-8317800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr4:8317200-8317800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:8317200-8317800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr4:8317200-8318000	Enhancers	Adipose Nuclei	Adipose
44	chr4:8317200-8318000	Enhancers	Brain Anterior Caudate	brain
45	chr4:8317200-8318000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr4:8317200-8318000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr4:8317200-8318000	Enhancers	Esophagus	oesophagus
48	chr4:8317200-8318000	Enhancers	Fetal Brain Female	brain
49	chr4:8317200-8318000	Enhancers	Pancreas	Pancrea
50	chr4:8317200-8318000	Enhancers	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links