Variant report

Variant	rs4235265
Chromosome Location	chr4:8317827-8317828
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	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	CEBPB	chr4:8317516-8317907	ECC-1	luminal epithelium:	n/a	chr4:8317759-8317771
5	FOS	chr4:8317649-8317979	MCF10A-Er-Src	breast:	n/a	chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317829-8317840 chr4:8317830-8317840
6	E2F6	chr4:8317352-8318270	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT3	chr4:8317475-8317842	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr4:8317343-8317990	Hela-S3	cervix:	n/a	chr4:8317869-8317879
9	TEAD4	chr4:8317165-8318389	ECC-1	luminal epithelium:	n/a	n/a
10	SMC3	chr4:8317284-8318097	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr4:8317170-8318061	Hela-S3	cervix:	n/a	n/a
12	TEAD4	chr4:8317672-8318047	H1-hESC	embryonic stem cell:	n/a	n/a
13	HA-E2F1	chr4:8317258-8317882	MCF-7	breast:	n/a	n/a
14	EP300	chr4:8317232-8318223	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr4:8317354-8318140	A549	lung:	n/a	n/a
16	MYC	chr4:8317817-8317882	MCF-7	breast:	n/a	chr4:8317869-8317879
17	SMARCC1	chr4:8317214-8318097	Hela-S3	cervix:	n/a	chr4:8317494-8317503
18	FOSL2	chr4:8317476-8318159	SK-N-SH	brain:	n/a	chr4:8317830-8317840 chr4:8317493-8317503 chr4:8317494-8317502 chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317830-8317840
19	ZBTB7A	chr4:8317438-8318641	ECC-1	luminal epithelium:	n/a	n/a
20	FOSL2	chr4:8317646-8317985	A549	lung:	n/a	chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317830-8317840
21	CHD2	chr4:8317706-8318020	H1-hESC	embryonic stem cell:	n/a	n/a
22	FOS	chr4:8317615-8317979	MCF10A-Er-Src	breast:	n/a	chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317829-8317840 chr4:8317830-8317840
23	TBP	chr4:8317598-8318026	Hela-S3	cervix:	n/a	n/a
24	MAZ	chr4:8317490-8318015	Hela-S3	cervix:	n/a	chr4:8317869-8317879
25	TAF1	chr4:8317719-8317972	SK-N-SH	brain:	n/a	n/a
26	EP300	chr4:8317526-8317992	Hela-S3	cervix:	n/a	n/a
27	NR2F2	chr4:8317323-8318116	MCF-7	breast:	n/a	n/a
28	FOS	chr4:8317479-8318003	MCF10A-Er-Src	breast:	n/a	chr4:8317830-8317840 chr4:8317493-8317503 chr4:8317494-8317502 chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317829-8317840 chr4:8317830-8317840
29	SP1	chr4:8317535-8318092	A549	lung:	n/a	chr4:8317869-8317883 chr4:8317906-8317915
30	EP300	chr4:8317289-8318427	ECC-1	luminal epithelium:	n/a	n/a
31	ESR1	chr4:8317277-8318015	ECC-1	luminal epithelium:	n/a	chr4:8317748-8317763
32	NR3C1	chr4:8317341-8317913	ECC-1	luminal epithelium:	n/a	chr4:8317831-8317840
33	JUND	chr4:8317699-8318067	A549	lung:	n/a	chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317830-8317840
34	TCF12	chr4:8317063-8318615	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr4:8317376-8318081	SK-N-SH	brain:	n/a	chr4:8317869-8317879
36	MYC	chr4:8317414-8317907	MCF10A-Er-Src	breast:	n/a	chr4:8317869-8317879
37	CEBPB	chr4:8317238-8318062	ECC-1	luminal epithelium:	n/a	chr4:8317759-8317771 chr4:8317373-8317385
38	BHLHE40	chr4:8317142-8317955	HepG2	liver:	n/a	n/a
39	E2F6	chr4:8317209-8317947	A549	lung:	n/a	n/a
40	MAX	chr4:8317171-8318113	HCT-116	colon:	n/a	chr4:8317869-8317879
41	ZKSCAN1	chr4:8317454-8318025	Hela-S3	cervix:	n/a	n/a
42	MAX	chr4:8317168-8318115	HCT-116	colon:	n/a	chr4:8317869-8317879
43	YY1	chr4:8317250-8318244	ECC-1	luminal epithelium:	n/a	chr4:8317472-8317481
44	CEBPB	chr4:8317438-8317961	MCF-7	breast:	n/a	chr4:8317759-8317771
45	ZBTB7A	chr4:8317422-8318615	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr4:8317021-8318246	ECC-1	luminal epithelium:	n/a	chr4:8317869-8317879
47	FOS	chr4:8317541-8317999	MCF10A-Er-Src	breast:	n/a	chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317830-8317840 chr4:8317829-8317840 chr4:8317830-8317840
48	POLR2A	chr4:8317329-8318120	Hela-S3	cervix:	n/a	n/a
49	MAX	chr4:8317195-8318081	MCF-7	breast:	n/a	chr4:8317869-8317879
50	NR3C1	chr4:8317355-8317953	ECC-1	luminal epithelium:	n/a	chr4:8317831-8317840

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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4404528	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4696809	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4696812	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs6447859	0.81[EUR][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:92 , 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	chr4:8316600-8318600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:8316600-8318600	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:8316600-8319000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:8316600-8319000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:8316600-8319200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:8316600-8321000	Enhancers	Fetal Heart	heart
9	chr4:8316800-8318000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:8316800-8318200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:8316800-8318200	Enhancers	Fetal Intestine Large	intestine
12	chr4:8316800-8318400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:8316800-8318400	Enhancers	Left Ventricle	heart
14	chr4:8316800-8318600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:8316800-8318600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:8316800-8318800	Enhancers	Fetal Muscle Leg	muscle
17	chr4:8316800-8318800	Enhancers	Thymus	Thymus
18	chr4:8316800-8319000	Enhancers	Ovary	ovary
19	chr4:8316800-8319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:8316800-8319200	Enhancers	Fetal Thymus	thymus
21	chr4:8316800-8319400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:8317000-8318000	Enhancers	Fetal Lung	lung
23	chr4:8317000-8318200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:8317000-8318200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:8317000-8318200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:8317000-8318400	Enhancers	Fetal Intestine Small	intestine
27	chr4:8317000-8318600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:8317000-8318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:8317000-8318600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:8317000-8318600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:8317000-8318600	Enhancers	Fetal Stomach	stomach
32	chr4:8317000-8318600	Enhancers	NHLF	lung
33	chr4:8317000-8318800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:8317000-8319000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:8317200-8318000	Enhancers	Adipose Nuclei	Adipose
36	chr4:8317200-8318000	Enhancers	Brain Anterior Caudate	brain
37	chr4:8317200-8318000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr4:8317200-8318000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr4:8317200-8318000	Enhancers	Esophagus	oesophagus
40	chr4:8317200-8318000	Enhancers	Fetal Brain Female	brain
41	chr4:8317200-8318000	Enhancers	Pancreas	Pancrea
42	chr4:8317200-8318000	Enhancers	Right Atrium	heart
43	chr4:8317200-8318000	Enhancers	Spleen	Spleen
44	chr4:8317200-8318200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:8317200-8318200	Enhancers	Brain Cingulate Gyrus	brain
46	chr4:8317200-8318200	Enhancers	Gastric	stomach
47	chr4:8317200-8318200	Enhancers	Lung	lung
48	chr4:8317200-8318200	Enhancers	Rectal Smooth Muscle	rectum
49	chr4:8317200-8318200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:8317200-8318200	Enhancers	Stomach Mucosa	stomach

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