Variant report

Variant	rs7697461
Chromosome Location	chr4:79565819-79565820
allele	A/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	RFX5	chr4:79565665-79568061	IMR90	lung:	n/a	chr4:79566034-79566049 chr4:79566035-79566049 chr4:79566605-79566614 chr4:79566603-79566617 chr4:79566038-79566047 chr4:79566036-79566044
2	EP300	chr4:79565800-79566318	K562	blood:	n/a	n/a
3	CTCF	chr4:79565772-79566226	K562	blood:	n/a	n/a
4	RAD21	chr4:79565773-79566294	HCT-116	colon:	n/a	chr4:79566076-79566090
5	RFX5	chr4:79564929-79567015	SK-N-SH	brain:	n/a	chr4:79566034-79566049 chr4:79566035-79566049 chr4:79566605-79566614 chr4:79566603-79566617 chr4:79566038-79566047 chr4:79566036-79566044
6	RFX5	chr4:79565354-79566309	Hela-S3	cervix:	n/a	chr4:79566034-79566049 chr4:79566035-79566049 chr4:79566038-79566047 chr4:79566036-79566044
7	TEAD4	chr4:79565432-79565838	ECC-1	luminal epithelium:	n/a	n/a
8	RAD21	chr4:79565732-79566332	HCT-116	colon:	n/a	chr4:79566076-79566090
9	CTCF	chr4:79565734-79566356	HCT-116	colon:	n/a	n/a
10	RAD21	chr4:79565810-79566305	MCF-7	breast:	n/a	chr4:79566076-79566090
11	CREB1	chr4:79565764-79566276	H1-hESC	embryonic stem cell:	n/a	n/a
12	RFX5	chr4:79565496-79566298	K562	blood:	n/a	chr4:79566034-79566049 chr4:79566035-79566049 chr4:79566038-79566047 chr4:79566036-79566044
13	RAD21	chr4:79565777-79566491	SK-N-SH	brain:	n/a	chr4:79566076-79566090
14	CTCF	chr4:79565800-79566393	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79565693..79569294-chr4:79696000..79698136,3	K562	blood:
2	chr4:79555903..79561750-chr4:79563110..79566277,7	K562	blood:
3	chr4:79563120..79566472-chr4:79698388..79700680,4	K562	blood:
4	chr4:79557761..79562686-chr4:79563110..79568703,4	K562	blood:
5	chr4:79565759..79566556-chr4:79590294..79591233,3	MCF-7	breast:
6	chr4:79564649..79566835-chr4:79572826..79575093,2	K562	blood:
7	chr4:79564124..79566354-chr4:79779216..79781048,2	MCF-7	breast:
8	chr4:79563690..79568625-chr4:79568843..79572048,4	K562	blood:
9	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
10	chr4:79563449..79567560-chr4:79569303..79574487,6	K562	blood:
11	chr4:79562740..79566241-chr4:79702324..79704926,3	MCF-7	breast:
12	chr4:79565619..79566154-chr4:79696280..79696883,2	MCF-7	breast:
13	chr4:79564080..79567985-chr4:79696414..79698633,7	MCF-7	breast:

Variant related genes	Relation type
LINC01094	TF binding region
ENSG00000238816	Chromatin interaction
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction
ENSG00000251019	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10212636	0.89[EUR][1000 genomes]
rs1107606	0.86[EUR][1000 genomes]
rs1108907	0.86[EUR][1000 genomes]
rs11724268	0.80[EUR][1000 genomes]
rs11724602	0.89[EUR][1000 genomes]
rs11728013	0.80[EUR][1000 genomes]
rs11733032	0.89[EUR][1000 genomes]
rs11736376	0.89[EUR][1000 genomes]
rs11736602	0.80[EUR][1000 genomes]
rs12233694	0.80[EUR][1000 genomes]
rs12233707	0.80[EUR][1000 genomes]
rs12643488	0.89[EUR][1000 genomes]
rs12646646	0.91[EUR][1000 genomes]
rs13138005	0.86[EUR][1000 genomes]
rs1972024	0.86[EUR][1000 genomes]
rs4073679	0.80[EUR][1000 genomes]
rs4075927	0.80[EUR][1000 genomes]
rs4077709	0.80[EUR][1000 genomes]
rs4306980	0.86[EUR][1000 genomes]
rs4353930	0.89[EUR][1000 genomes]
rs4975148	0.88[EUR][1000 genomes]
rs6533825	0.86[EUR][1000 genomes]
rs6533835	0.88[EUR][1000 genomes]
rs6533842	0.88[EUR][1000 genomes]
rs6811335	0.86[EUR][1000 genomes]
rs6814739	0.80[EUR][1000 genomes]
rs6819484	0.80[EUR][1000 genomes]
rs6824014	0.86[EUR][1000 genomes]
rs6829061	0.86[EUR][1000 genomes]
rs6829198	0.89[EUR][1000 genomes]
rs6834587	0.89[EUR][1000 genomes]
rs6835210	0.80[EUR][1000 genomes]
rs6835998	0.86[EUR][1000 genomes]
rs6840592	0.80[EUR][1000 genomes]
rs6846346	0.89[EUR][1000 genomes]
rs6854055	0.89[EUR][1000 genomes]
rs7317	0.86[EUR][1000 genomes]
rs7657082	0.86[EUR][1000 genomes]
rs7669866	0.86[EUR][1000 genomes]
rs7680749	0.89[EUR][1000 genomes]
rs7680766	0.89[EUR][1000 genomes]
rs7689154	0.89[EUR][1000 genomes]
rs9998136	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:79555800-79566400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:79557200-79568000	Enhancers	Primary B cells from cord blood	blood
4	chr4:79561600-79568000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:79561800-79566800	Enhancers	K562	blood
6	chr4:79562000-79568000	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:79562400-79566400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:79562800-79567600	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:79563000-79566000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:79563200-79568800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:79563400-79567200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:79563800-79566600	Enhancers	Hela-S3	cervix
13	chr4:79564000-79568000	Enhancers	Fetal Intestine Large	intestine
14	chr4:79564200-79566400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr4:79564200-79566400	Weak transcription	NHLF	lung
16	chr4:79564400-79566000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:79564400-79566200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:79564400-79566400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:79564400-79566400	Weak transcription	HSMM	muscle
20	chr4:79564400-79566600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:79564400-79566800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:79564400-79567000	Weak transcription	Left Ventricle	heart
23	chr4:79564400-79567000	Weak transcription	Spleen	Spleen
24	chr4:79564400-79571400	Weak transcription	Fetal Heart	heart
25	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
26	chr4:79564400-79589600	Weak transcription	Lung	lung
27	chr4:79564600-79566000	Weak transcription	Adipose Nuclei	Adipose
28	chr4:79564600-79566000	Weak transcription	NHDF-Ad	bronchial
29	chr4:79564600-79566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:79564600-79566400	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:79564600-79566400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:79564600-79566600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:79564600-79566600	Weak transcription	Stomach Mucosa	stomach
34	chr4:79564600-79567000	Weak transcription	Esophagus	oesophagus
35	chr4:79564600-79567000	Weak transcription	Right Atrium	heart
36	chr4:79564800-79566000	Weak transcription	Fetal Intestine Small	intestine
37	chr4:79564800-79566400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:79564800-79566600	Weak transcription	HSMMtube	muscle
39	chr4:79564800-79567200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:79564800-79567600	Enhancers	GM12878-XiMat	blood
41	chr4:79565000-79566000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:79565000-79566400	Weak transcription	Placenta	Placenta
43	chr4:79565000-79566600	Weak transcription	Brain Substantia Nigra	brain
44	chr4:79565200-79567000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr4:79565400-79566200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr4:79565400-79566400	Enhancers	HUVEC	blood vessel
47	chr4:79565400-79566400	Enhancers	NHEK	skin
48	chr4:79565400-79566600	Enhancers	A549	lung
49	chr4:79565400-79567000	Enhancers	Brain Anterior Caudate	brain
50	chr4:79565600-79566600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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