Variant report

Variant	rs2501940
Chromosome Location	chr9:78985465-78985466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:78937965..78939769-chr9:78983813..78985736,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10121699	0.90[CEU][hapmap];0.87[CHB][hapmap];0.84[EUR][1000 genomes]
rs10124695	0.83[EUR][1000 genomes]
rs11144864	0.82[JPT][hapmap]
rs11144865	0.82[JPT][hapmap]
rs12057052	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13288968	0.89[ASN][1000 genomes]
rs1535845	0.83[EUR][1000 genomes]
rs1961995	0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2002423	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2490572	0.87[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2490574	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2490576	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2490583	0.83[EUR][1000 genomes]
rs2490584	0.80[CEU][hapmap]
rs2490586	0.90[CEU][hapmap];0.83[CHB][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2501920	0.84[EUR][1000 genomes]
rs2501930	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2501932	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2501937	0.87[ASN][1000 genomes]
rs2501938	0.87[ASN][1000 genomes]
rs2501939	0.88[ASN][1000 genomes]
rs2501942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4745544	0.90[CEU][hapmap];0.87[CHB][hapmap];0.83[EUR][1000 genomes]
rs6560519	0.80[EUR][1000 genomes]
rs6560522	0.82[CHB][hapmap]
rs7847608	0.90[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78964400-78986400	Weak transcription	Colonic Mucosa	Colon
2	chr9:78969200-78988000	Weak transcription	Aorta	Aorta
3	chr9:78978800-78987000	Weak transcription	Small Intestine	intestine
4	chr9:78979400-78986800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:78980400-78986800	Weak transcription	HSMM	muscle
6	chr9:78980400-78987000	Weak transcription	HSMMtube	muscle
7	chr9:78980400-78990000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:78981200-78986800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:78981600-78988000	Weak transcription	K562	blood
10	chr9:78983200-78985600	Enhancers	Duodenum Mucosa	Duodenum
11	chr9:78983800-78985800	Enhancers	Liver	Liver
12	chr9:78983800-78985800	Enhancers	HepG2	liver
13	chr9:78983800-78986000	Enhancers	Stomach Mucosa	stomach
14	chr9:78983800-78986400	Enhancers	A549	lung
15	chr9:78983800-78989000	Enhancers	Fetal Lung	lung
16	chr9:78984000-78986200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:78984400-78985600	Enhancers	GM12878-XiMat	blood
18	chr9:78984400-78985600	Enhancers	NH-A	brain
19	chr9:78984400-78989600	Enhancers	Hela-S3	cervix
20	chr9:78984600-78986800	Weak transcription	Osteobl	bone
21	chr9:78984600-78993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:78984800-78985800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:78984800-78986800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:78984800-78986800	Weak transcription	HUVEC	blood vessel
25	chr9:78984800-78987200	Weak transcription	NHLF	lung
26	chr9:78984800-78987800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:78984800-78989800	Weak transcription	Left Ventricle	heart
28	chr9:78985000-78986000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:78985000-78986800	Weak transcription	Fetal Stomach	stomach
30	chr9:78985000-78986800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:78985000-78987000	Weak transcription	Fetal Heart	heart
32	chr9:78985000-78987400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:78985000-78988000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:78985000-78988000	Weak transcription	Fetal Muscle Leg	muscle
35	chr9:78985000-78989000	Weak transcription	Pancreas	Pancrea
36	chr9:78985000-78989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:78985000-78989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:78985000-78989800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr9:78985200-78985600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:78985200-78985600	Weak transcription	Fetal Intestine Small	intestine
41	chr9:78985200-78987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr9:78985400-78985600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr9:78985400-78985600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr9:78985400-78985600	Enhancers	Rectal Smooth Muscle	rectum
45	chr9:78985400-78986800	Weak transcription	Fetal Intestine Large	intestine
46	chr9:78985400-78987200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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