Variant report

Variant	rs11676903
Chromosome Location	chr2:9763201-9763202
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	POLR2A	chr2:9762954-9763513	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:9763044-9763732	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:9759290-9765048	A549	lung:	n/a	n/a
4	POLR2A	chr2:9763029-9763619	HepG2	liver:	n/a	n/a
5	TCF7L2	chr2:9762532-9763252	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:9763130-9763502	K562	blood:	n/a	n/a
7	POLR2A	chr2:9762948-9764212	PANC-1	pancreas:	n/a	n/a
8	EBF1	chr2:9763155-9763298	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:9763124-9763624	GM12892	blood:	n/a	n/a
10	POLR2A	chr2:9757494-9763722	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9696847..9698969-chr2:9762512..9764807,2	K562	blood:
2	chr2:9761639..9764568-chr2:9881456..9883138,2	K562	blood:

Variant related genes	Relation type
YWHAQ	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10495571	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495572	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495573	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692112	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694314	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867083	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362839	0.95[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17362902	1.00[CEU][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17453675	0.95[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17453724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883249	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56372340	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57234614	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57407838	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60319753	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60726087	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119391	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119392	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119393	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119422	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119423	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119428	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62119429	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62119431	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62119432	0.89[AMR][1000 genomes];0.93[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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 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	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9744800-9766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:9748600-9765600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:9748600-9766600	Weak transcription	Aorta	Aorta
5	chr2:9748600-9767600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:9748800-9763400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:9749000-9764600	Weak transcription	Lung	lung
8	chr2:9749000-9769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:9749200-9764000	Weak transcription	Fetal Brain Male	brain
10	chr2:9749200-9768000	Weak transcription	Stomach Mucosa	stomach
11	chr2:9749600-9768200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:9752200-9768200	Weak transcription	Colonic Mucosa	Colon
13	chr2:9753000-9767000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:9753200-9767000	Weak transcription	Spleen	Spleen
15	chr2:9754000-9767200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:9754200-9763600	Weak transcription	Right Ventricle	heart
17	chr2:9754200-9764000	Weak transcription	Right Atrium	heart
18	chr2:9754200-9764200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:9754200-9764200	Weak transcription	Pancreas	Pancrea
20	chr2:9754200-9767600	Weak transcription	Esophagus	oesophagus
21	chr2:9754200-9768800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:9755000-9765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:9755400-9763600	Weak transcription	Fetal Stomach	stomach
24	chr2:9755400-9765600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:9756200-9767800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:9756400-9767200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:9757600-9763400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:9757800-9767400	Weak transcription	Placenta	Placenta
29	chr2:9758000-9764200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:9758000-9767000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:9758000-9769400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:9758200-9763600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:9758200-9764400	Weak transcription	Fetal Lung	lung
34	chr2:9758800-9767000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:9759000-9763400	Weak transcription	Left Ventricle	heart
36	chr2:9759000-9763800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:9759000-9765600	Weak transcription	GM12878-XiMat	blood
38	chr2:9759000-9767000	Weak transcription	NHLF	lung
39	chr2:9760200-9765600	Weak transcription	Liver	Liver
40	chr2:9760200-9767200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:9760400-9767000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:9760400-9767000	Strong transcription	HSMM	muscle
43	chr2:9760400-9768000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:9760800-9764200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:9760800-9765600	Weak transcription	Fetal Kidney	kidney
46	chr2:9760800-9767600	Strong transcription	Fetal Thymus	thymus
47	chr2:9761000-9767600	Weak transcription	HSMMtube	muscle
48	chr2:9761200-9763600	Weak transcription	Fetal Intestine Small	intestine
49	chr2:9761200-9765600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:9761200-9765600	Weak transcription	Brain Anterior Caudate	brain

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