Variant report

Variant	rs11731614
Chromosome Location	chr4:7785159-7785160
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	POLR2A	chr4:7785149-7785748	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7785064..7787531-chr4:7788291..7790828,3	K562	blood:
2	chr4:7784424..7786891-chr4:7788959..7792253,4	K562	blood:

Variant related genes	Relation type
AFAP1	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10516189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723068	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11724590	0.85[CHB][hapmap]
rs11725132	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11725213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11727624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11728415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11731850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11736326	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11736912	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11737451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16841112	0.89[CEU][hapmap];0.91[AMR][1000 genomes]
rs16841187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16841215	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16841246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017177	0.91[AMR][1000 genomes]
rs2240053	0.89[CEU][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes]
rs2240054	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs2240055	0.91[AMR][1000 genomes]
rs2269849	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2269878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276967	0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2285766	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2285767	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2285769	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2285770	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2285771	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2285772	0.85[ASN][1000 genomes]
rs28604598	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4538480	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4689162	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4689165	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4689862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4997103	0.89[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes]
rs55677626	0.88[AMR][1000 genomes]
rs55752670	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55817815	0.84[AMR][1000 genomes]
rs58790280	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58957020	0.91[AMR][1000 genomes]
rs67476190	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67725344	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6852934	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs757252	0.91[AMR][1000 genomes]
rs7660919	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7695250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
2	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
3	chr4:7762000-7788000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
5	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:7776400-7787200	Weak transcription	Fetal Brain Male	brain
7	chr4:7776400-7790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7776400-7799000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:7776400-7800000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:7776400-7806800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:7776600-7785400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:7777000-7785800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:7780200-7794400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:7780600-7785800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:7780600-7788000	Genic enhancers	Osteobl	bone
16	chr4:7780600-7800200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:7780800-7790600	Weak transcription	Pancreas	Pancrea
18	chr4:7781000-7800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:7781200-7796000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:7781400-7786000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:7781400-7800400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:7781400-7801000	Weak transcription	Brain Substantia Nigra	brain
23	chr4:7781400-7801200	Weak transcription	Brain Anterior Caudate	brain
24	chr4:7781600-7786000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:7781600-7786800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:7781600-7789400	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr4:7781600-7791400	Strong transcription	Fetal Intestine Large	intestine
28	chr4:7781600-7807400	Weak transcription	Brain Angular Gyrus	brain
29	chr4:7781800-7786800	Weak transcription	Fetal Kidney	kidney
30	chr4:7781800-7790000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:7782000-7786000	Enhancers	Fetal Heart	heart
32	chr4:7782000-7786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:7782000-7790600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:7782200-7785400	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:7782200-7791000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr4:7782600-7790800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:7782800-7785800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:7782800-7785800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr4:7783000-7785600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr4:7783000-7785600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:7783200-7785400	Enhancers	NHDF-Ad	bronchial
42	chr4:7783200-7788200	Enhancers	GM12878-XiMat	blood
43	chr4:7783400-7785200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:7783400-7785200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:7783400-7785400	Weak transcription	Gastric	stomach
46	chr4:7783400-7794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:7783400-7798800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:7783400-7799200	Weak transcription	HepG2	liver
49	chr4:7783600-7785200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:7783600-7785200	Weak transcription	HMEC	breast

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