Variant report

Variant	rs1377207
Chromosome Location	chr4:86697644-86697645
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	CBX3	chr4:86697638-86698170	HCT-116	colon:	n/a	n/a
2	SRF	chr4:86697536-86698260	HCT-116	colon:	n/a	chr4:86697971-86697988
3	SRF	chr4:86697610-86698319	HCT-116	colon:	n/a	chr4:86697971-86697988
4	POLR2A	chr4:86697278-86698266	HUVEC	blood vessel:	n/a	n/a
5	FOSL1	chr4:86697602-86698241	HCT-116	colon:	n/a	n/a
6	POLR2A	chr4:86697535-86698178	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr4:86697498-86698076	HCT-116	colon:	n/a	n/a
8	FOS	chr4:86697481-86698210	HUVEC	blood vessel:	n/a	n/a
9	MYC	chr4:86697611-86698063	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:86697566-86698229	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ARHGAP24	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11933664	0.80[AFR][1000 genomes]
rs11947596	0.81[AFR][1000 genomes]
rs13108382	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13150113	1.00[ASW][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2869382	1.00[ASW][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3943498	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7654689	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7657573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7657602	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7678983	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7679553	0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7684989	1.00[ASW][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86676800-86697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:86683200-86699000	Weak transcription	Primary B cells from cord blood	blood
4	chr4:86684800-86705600	Weak transcription	Small Intestine	intestine
5	chr4:86695400-86699200	Weak transcription	Gastric	stomach
6	chr4:86695400-86708200	Weak transcription	Pancreas	Pancrea
7	chr4:86695600-86699800	Weak transcription	Right Ventricle	heart
8	chr4:86696000-86699400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:86696000-86703800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:86696200-86699400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:86696400-86697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:86696400-86699600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:86696400-86699600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:86696800-86697800	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr4:86696800-86698000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:86696800-86698000	Enhancers	Fetal Heart	heart
17	chr4:86696800-86698000	Enhancers	Fetal Kidney	kidney
18	chr4:86696800-86698200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:86697000-86697800	Enhancers	Fetal Lung	lung
20	chr4:86697000-86697800	Enhancers	Fetal Stomach	stomach
21	chr4:86697000-86697800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:86697000-86697800	Enhancers	HSMMtube	muscle
23	chr4:86697000-86698200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:86697000-86699200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:86697000-86699200	Enhancers	NHDF-Ad	bronchial
26	chr4:86697000-86699400	Enhancers	NHLF	lung
27	chr4:86697200-86697800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:86697200-86698000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:86697200-86698000	Enhancers	A549	lung
30	chr4:86697200-86698200	Enhancers	Adipose Nuclei	Adipose
31	chr4:86697200-86698200	Enhancers	HSMM	muscle
32	chr4:86697200-86707800	Weak transcription	Spleen	Spleen
33	chr4:86697400-86697800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:86697400-86697800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:86697400-86697800	Enhancers	NH-A	brain
36	chr4:86697400-86698000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:86697400-86698000	Enhancers	Fetal Muscle Leg	muscle
38	chr4:86697400-86698200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:86697400-86698400	Enhancers	Hela-S3	cervix
40	chr4:86697400-86698400	Flanking Active TSS	HUVEC	blood vessel
41	chr4:86697400-86698600	Enhancers	NHEK	skin
42	chr4:86697400-86699000	Enhancers	HMEC	breast
43	chr4:86697400-86699800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr4:86697600-86697800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr4:86697600-86697800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:86697600-86697800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:86697600-86697800	Enhancers	Esophagus	oesophagus
48	chr4:86697600-86698000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr4:86697600-86698000	Enhancers	Brain Hippocampus Middle	brain
50	chr4:86697600-86698000	Enhancers	Sigmoid Colon	Sigmoid Colon

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