Variant report

Variant	rs7685686
Chromosome Location	chr4:3207142-3207143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3198767..3201589-chr4:3205196..3207411,2	K562	blood:
2	chr4:3206891..3208682-chr4:3463951..3466139,2	MCF-7	breast:
3	chr4:3200457..3202229-chr4:3205409..3207674,2	K562	blood:

Variant related genes	Relation type
ENSG00000175920	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs108850	0.80[JPT][hapmap]
rs110501	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16843804	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17780797	0.85[EUR][1000 genomes]
rs1891701	0.83[ASN][1000 genomes]
rs2024115	0.81[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2071655	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs2071662	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2071671	0.94[JPT][hapmap]
rs2071704	0.84[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs2157090	0.82[JPT][hapmap]
rs2237006	0.91[EUR][1000 genomes]
rs2237007	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2269477	0.93[ASN][1000 genomes]
rs2269478	0.81[EUR][1000 genomes]
rs2269499	0.80[JPT][hapmap]
rs2285086	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2298967	0.93[ASN][1000 genomes]
rs2298971	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2530601	0.82[JPT][hapmap]
rs2798221	0.90[JPT][hapmap]
rs28403215	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28867436	0.81[EUR][1000 genomes]
rs3095077	0.90[JPT][hapmap]
rs3121419	0.86[JPT][hapmap]
rs3135175	0.81[ASN][1000 genomes]
rs362268	0.83[ASN][1000 genomes]
rs362271	0.80[JPT][hapmap]
rs362272	0.80[JPT][hapmap]
rs362273	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs362275	0.89[ASN][1000 genomes]
rs362296	0.85[JPT][hapmap]
rs362306	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs362309	0.84[ASN][1000 genomes]
rs362312	0.80[ASN][1000 genomes]
rs362314	0.84[EUR][1000 genomes]
rs362319	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs362331	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs362336	0.92[ASN][1000 genomes]
rs363063	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs363064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs363066	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs363088	0.95[ASN][1000 genomes]
rs363092	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs363096	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs363099	0.80[ASN][1000 genomes]
rs3755883	0.88[ASN][1000 genomes]
rs3775061	0.81[ASN][1000 genomes]
rs3856973	0.96[CEU][hapmap];0.95[CHB][hapmap]
rs4690011	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4690072	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs4690073	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4690075	0.88[ASN][1000 genomes]
rs59613878	0.85[ASN][1000 genomes]
rs60197694	0.84[ASN][1000 genomes]
rs61792530	0.84[ASN][1000 genomes]
rs6446723	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs6446727	0.82[JPT][hapmap]
rs6446731	0.81[JPT][hapmap]
rs66684864	0.92[ASN][1000 genomes]
rs6844859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6855981	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs73193303	0.93[ASN][1000 genomes]
rs7659144	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs7661630	0.82[JPT][hapmap]
rs7691627	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs82332	0.88[ASN][1000 genomes]
rs82333	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs82334	0.88[ASN][1000 genomes]
rs916171	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9996868	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv461164	chr4:3149016-3215835	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv593439	chr4:3149016-3215835	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
2	chr4:3145800-3239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:3170000-3208800	Weak transcription	Stomach Mucosa	stomach
4	chr4:3172400-3238800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:3185200-3208400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:3191200-3208600	Weak transcription	A549	lung
7	chr4:3191800-3207800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:3191800-3208200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:3191800-3211600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:3192800-3208600	Weak transcription	HUVEC	blood vessel
11	chr4:3193800-3233000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:3194000-3237600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:3194200-3210600	Weak transcription	HMEC	breast
14	chr4:3194200-3212600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:3196000-3242600	Strong transcription	Fetal Intestine Small	intestine
16	chr4:3199400-3208600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:3201400-3207400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:3201400-3238400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:3202600-3207800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:3202600-3207800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:3202600-3207800	Weak transcription	Ovary	ovary
22	chr4:3202600-3208400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:3202800-3208000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:3202800-3208200	Weak transcription	NHEK	skin
25	chr4:3203000-3207800	Weak transcription	Brain Substantia Nigra	brain
26	chr4:3203200-3207800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:3203800-3211600	Weak transcription	Fetal Heart	heart
28	chr4:3204000-3207800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:3204000-3207800	Weak transcription	Aorta	Aorta
30	chr4:3204000-3207800	Weak transcription	Esophagus	oesophagus
31	chr4:3204000-3208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:3204000-3208400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:3204200-3207800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:3204200-3208400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:3204600-3208400	Weak transcription	K562	blood
36	chr4:3204800-3207800	Weak transcription	Spleen	Spleen
37	chr4:3204800-3208200	Weak transcription	Right Ventricle	heart
38	chr4:3204800-3208400	Weak transcription	Colonic Mucosa	Colon
39	chr4:3204800-3210800	Weak transcription	Small Intestine	intestine
40	chr4:3204800-3246000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:3205000-3207800	Weak transcription	Gastric	stomach
42	chr4:3205000-3213600	Weak transcription	Psoas Muscle	Psoas
43	chr4:3205200-3207200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:3205200-3207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:3205200-3207800	Weak transcription	Pancreas	Pancrea
46	chr4:3205200-3207800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:3205200-3208200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:3205200-3212200	Strong transcription	GM12878-XiMat	blood
49	chr4:3205400-3208000	Enhancers	HepG2	liver
50	chr4:3205400-3208400	Weak transcription	Fetal Kidney	kidney

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