Variant report

Variant	rs17453724
Chromosome Location	chr2:9764001-9764002
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	chr2:9759290-9765048	A549	lung:	n/a	n/a
2	POLR2A	chr2:9762948-9764212	PANC-1	pancreas:	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];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495572	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495573	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692112	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694314	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867083	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362839	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17362902	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17453675	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17453752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883249	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56372340	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57234614	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57407838	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60319753	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60726087	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119391	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119392	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119393	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119422	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119423	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119428	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62119429	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62119431	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62119432	0.87[AMR][1000 genomes];0.91[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	chr2:9749000-9764600	Weak transcription	Lung	lung
7	chr2:9749000-9769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:9749200-9768000	Weak transcription	Stomach Mucosa	stomach
9	chr2:9749600-9768200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:9752200-9768200	Weak transcription	Colonic Mucosa	Colon
11	chr2:9753000-9767000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:9753200-9767000	Weak transcription	Spleen	Spleen
13	chr2:9754000-9767200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:9754200-9764200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:9754200-9764200	Weak transcription	Pancreas	Pancrea
16	chr2:9754200-9767600	Weak transcription	Esophagus	oesophagus
17	chr2:9754200-9768800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:9755000-9765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:9755400-9765600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:9756200-9767800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:9756400-9767200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:9757800-9767400	Weak transcription	Placenta	Placenta
23	chr2:9758000-9764200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:9758000-9767000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:9758000-9769400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:9758200-9764400	Weak transcription	Fetal Lung	lung
27	chr2:9758800-9767000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:9759000-9765600	Weak transcription	GM12878-XiMat	blood
29	chr2:9759000-9767000	Weak transcription	NHLF	lung
30	chr2:9760200-9765600	Weak transcription	Liver	Liver
31	chr2:9760200-9767200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:9760400-9767000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:9760400-9767000	Strong transcription	HSMM	muscle
34	chr2:9760400-9768000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:9760800-9764200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:9760800-9765600	Weak transcription	Fetal Kidney	kidney
37	chr2:9760800-9767600	Strong transcription	Fetal Thymus	thymus
38	chr2:9761000-9767600	Weak transcription	HSMMtube	muscle
39	chr2:9761200-9765600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:9761200-9765600	Weak transcription	Brain Anterior Caudate	brain
41	chr2:9761200-9765600	Genic enhancers	Dnd41	blood
42	chr2:9761200-9765800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:9761200-9767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:9761400-9765600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:9761400-9766200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:9761400-9767000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:9761600-9768800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr2:9761800-9764200	Weak transcription	Fetal Heart	heart
49	chr2:9761800-9769400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:9762000-9764200	Strong transcription	Fetal Muscle Trunk	muscle

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