Variant report

Variant	rs2501938
Chromosome Location	chr9:78986853-78986854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10121699	0.86[ASN][1000 genomes]
rs10124695	0.87[ASN][1000 genomes]
rs11144864	0.83[ASN][1000 genomes]
rs11144865	0.83[ASN][1000 genomes]
rs11788095	0.86[ASN][1000 genomes]
rs12057052	0.94[ASN][1000 genomes]
rs13288968	0.97[ASN][1000 genomes]
rs13302654	0.85[ASN][1000 genomes]
rs1535845	0.87[ASN][1000 genomes]
rs1961995	0.94[ASN][1000 genomes]
rs2002423	0.92[ASN][1000 genomes]
rs2377639	0.83[ASN][1000 genomes]
rs2490572	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2490573	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2490574	0.94[ASN][1000 genomes]
rs2490576	0.94[ASN][1000 genomes]
rs2490583	0.88[ASN][1000 genomes]
rs2490584	0.88[ASN][1000 genomes]
rs2490586	0.90[ASN][1000 genomes]
rs2501920	0.87[ASN][1000 genomes]
rs2501928	0.83[ASN][1000 genomes]
rs2501930	0.94[ASN][1000 genomes]
rs2501932	0.96[ASN][1000 genomes]
rs2501933	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2501935	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2501937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2501939	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2501940	0.87[ASN][1000 genomes]
rs2501942	0.87[ASN][1000 genomes]
rs4745544	0.87[ASN][1000 genomes]
rs4745545	0.83[ASN][1000 genomes]
rs4745546	0.82[ASN][1000 genomes]
rs6560520	0.91[EUR][1000 genomes]
rs6560521	0.91[EUR][1000 genomes]
rs6560522	0.91[EUR][1000 genomes]
rs7847608	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3429589	chr9:78986490-78986955	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78969200-78988000	Weak transcription	Aorta	Aorta
2	chr9:78978800-78987000	Weak transcription	Small Intestine	intestine
3	chr9:78980400-78987000	Weak transcription	HSMMtube	muscle
4	chr9:78980400-78990000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:78981600-78988000	Weak transcription	K562	blood
6	chr9:78983800-78989000	Enhancers	Fetal Lung	lung
7	chr9:78984400-78989600	Enhancers	Hela-S3	cervix
8	chr9:78984600-78993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:78984800-78987200	Weak transcription	NHLF	lung
10	chr9:78984800-78987800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:78984800-78989800	Weak transcription	Left Ventricle	heart
12	chr9:78985000-78987000	Weak transcription	Fetal Heart	heart
13	chr9:78985000-78987400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:78985000-78988000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:78985000-78988000	Weak transcription	Fetal Muscle Leg	muscle
16	chr9:78985000-78989000	Weak transcription	Pancreas	Pancrea
17	chr9:78985000-78989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:78985000-78989600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:78985000-78989800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:78985200-78987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:78985400-78987200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:78985600-78987200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr9:78985600-78987600	Weak transcription	GM12878-XiMat	blood
24	chr9:78985600-78989600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr9:78985800-78987000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:78985800-78987000	Weak transcription	Fetal Intestine Small	intestine
27	chr9:78985800-78987000	Weak transcription	HepG2	liver
28	chr9:78985800-78987600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr9:78986000-78987000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:78986000-78987200	Weak transcription	Stomach Mucosa	stomach
31	chr9:78986000-78990400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:78986400-78988000	Enhancers	Colonic Mucosa	Colon
33	chr9:78986600-78988000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:78986600-78988600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr9:78986600-79008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:78986800-78987000	Enhancers	Gastric	stomach
37	chr9:78986800-78987000	Enhancers	Lung	lung
38	chr9:78986800-78987000	Enhancers	A549	lung
39	chr9:78986800-78987200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr9:78986800-78987400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr9:78986800-78987400	Enhancers	HSMM	muscle
42	chr9:78986800-78987400	Enhancers	HUVEC	blood vessel
43	chr9:78986800-78987800	Enhancers	Duodenum Mucosa	Duodenum
44	chr9:78986800-78988200	Enhancers	Stomach Smooth Muscle	stomach
45	chr9:78986800-78988600	Enhancers	Osteobl	bone
46	chr9:78986800-78988800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr9:78986800-78989000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:78986800-78989000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:78986800-78989000	Enhancers	NH-A	brain
50	chr9:78986800-78989200	Enhancers	Ovary	ovary

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