Variant report

Variant	rs3940160
Chromosome Location	chr10:50672226-50672227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1130028	0.97[ASN][1000 genomes]
rs11812473	0.90[ASN][1000 genomes]
rs11819019	0.90[ASN][1000 genomes]
rs17010079	0.90[ASN][1000 genomes]
rs17775180	0.97[ASN][1000 genomes]
rs2228526	0.97[ASN][1000 genomes]
rs2228527	0.97[ASN][1000 genomes]
rs2228529	0.97[ASN][1000 genomes]
rs4253101	0.97[ASN][1000 genomes]
rs4253106	0.97[ASN][1000 genomes]
rs4253121	0.97[ASN][1000 genomes]
rs4253165	0.97[ASN][1000 genomes]
rs4253166	0.97[ASN][1000 genomes]
rs4253193	0.97[ASN][1000 genomes]
rs56164647	0.97[ASN][1000 genomes]
rs58002245	0.97[ASN][1000 genomes]
rs58912975	0.90[ASN][1000 genomes]
rs61850971	0.90[ASN][1000 genomes]
rs7073830	0.97[ASN][1000 genomes]
rs7079192	0.90[ASN][1000 genomes]
rs7920256	0.97[ASN][1000 genomes]
rs971667	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50656600-50672600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:50660400-50672400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:50662200-50677800	Weak transcription	Fetal Heart	heart
4	chr10:50662200-50691600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:50662400-50690000	Weak transcription	Stomach Mucosa	stomach
6	chr10:50662400-50693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:50662600-50674800	Weak transcription	Colonic Mucosa	Colon
8	chr10:50662600-50676600	Weak transcription	Small Intestine	intestine
9	chr10:50662600-50677600	Weak transcription	NHDF-Ad	bronchial
10	chr10:50662600-50691400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:50663000-50675800	Weak transcription	Colon Smooth Muscle	Colon
12	chr10:50663200-50672600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr10:50663200-50693800	Weak transcription	HepG2	liver
14	chr10:50663800-50672600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:50664000-50677400	Weak transcription	Fetal Kidney	kidney
16	chr10:50664600-50678200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr10:50666200-50672600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:50666200-50674200	Weak transcription	Fetal Brain Male	brain
19	chr10:50666600-50676400	Weak transcription	K562	blood
20	chr10:50666600-50684400	Weak transcription	NHLF	lung
21	chr10:50666800-50678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr10:50667600-50672600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:50667600-50675600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:50667800-50677600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr10:50667800-50707400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr10:50668000-50713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr10:50668200-50674400	Weak transcription	Fetal Lung	lung
28	chr10:50668200-50675800	Weak transcription	Esophagus	oesophagus
29	chr10:50668200-50680200	Weak transcription	GM12878-XiMat	blood
30	chr10:50668400-50676400	Weak transcription	Hela-S3	cervix
31	chr10:50668400-50677600	Weak transcription	NH-A	brain
32	chr10:50668400-50677800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr10:50668400-50677800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr10:50668400-50678200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr10:50668600-50672400	Weak transcription	Brain Germinal Matrix	brain
36	chr10:50668600-50674800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr10:50668800-50677600	Weak transcription	Psoas Muscle	Psoas
38	chr10:50668800-50677800	Weak transcription	Fetal Thymus	thymus
39	chr10:50669000-50678200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:50669400-50675200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr10:50669600-50672400	Weak transcription	Fetal Stomach	stomach
42	chr10:50669600-50672600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr10:50669600-50672600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:50669600-50672600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr10:50669600-50672600	Weak transcription	Lung	lung
46	chr10:50669600-50674200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:50669600-50674400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr10:50669600-50674400	Weak transcription	Placenta	Placenta
49	chr10:50669600-50674400	Weak transcription	HSMM	muscle
50	chr10:50669600-50674600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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