Variant report

Variant	rs2104346
Chromosome Location	chr10:50672601-50672602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1018603	1.00[ASN][1000 genomes]
rs10745261	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776572	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10776573	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10776577	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857502	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101147	1.00[ASN][1000 genomes]
rs1475255	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17774510	1.00[ASN][1000 genomes]
rs1917800	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924490	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1924492	1.00[ASN][1000 genomes]
rs2103201	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240509	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4253026	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253073	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253077	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253087	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4253120	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4253132	1.00[ASN][1000 genomes]
rs4253162	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253164	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253179	1.00[ASN][1000 genomes]
rs4838523	1.00[ASN][1000 genomes]
rs4838524	1.00[ASN][1000 genomes]
rs4838530	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57509152	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537538	1.00[ASN][1000 genomes]
rs7072383	0.91[EUR][1000 genomes]
rs7076173	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7080017	1.00[ASN][1000 genomes]
rs7091005	1.00[ASN][1000 genomes]
rs72792895	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72793798	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902661	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903788	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7903930	1.00[ASN][1000 genomes]
rs7916873	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923762	1.00[ASN][1000 genomes]
rs912470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958967	1.00[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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50662200-50677800	Weak transcription	Fetal Heart	heart
2	chr10:50662200-50691600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:50662400-50690000	Weak transcription	Stomach Mucosa	stomach
4	chr10:50662400-50693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:50662600-50674800	Weak transcription	Colonic Mucosa	Colon
6	chr10:50662600-50676600	Weak transcription	Small Intestine	intestine
7	chr10:50662600-50677600	Weak transcription	NHDF-Ad	bronchial
8	chr10:50662600-50691400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:50663000-50675800	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:50663200-50693800	Weak transcription	HepG2	liver
11	chr10:50664000-50677400	Weak transcription	Fetal Kidney	kidney
12	chr10:50664600-50678200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr10:50666200-50674200	Weak transcription	Fetal Brain Male	brain
14	chr10:50666600-50676400	Weak transcription	K562	blood
15	chr10:50666600-50684400	Weak transcription	NHLF	lung
16	chr10:50666800-50678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr10:50667600-50675600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:50667800-50677600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:50667800-50707400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:50668000-50713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr10:50668200-50674400	Weak transcription	Fetal Lung	lung
22	chr10:50668200-50675800	Weak transcription	Esophagus	oesophagus
23	chr10:50668200-50680200	Weak transcription	GM12878-XiMat	blood
24	chr10:50668400-50676400	Weak transcription	Hela-S3	cervix
25	chr10:50668400-50677600	Weak transcription	NH-A	brain
26	chr10:50668400-50677800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr10:50668400-50677800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:50668400-50678200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr10:50668600-50674800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr10:50668800-50677600	Weak transcription	Psoas Muscle	Psoas
31	chr10:50668800-50677800	Weak transcription	Fetal Thymus	thymus
32	chr10:50669000-50678200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:50669400-50675200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:50669600-50674200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:50669600-50674400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr10:50669600-50674400	Weak transcription	Placenta	Placenta
37	chr10:50669600-50674400	Weak transcription	HSMM	muscle
38	chr10:50669600-50674600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr10:50669600-50674600	Weak transcription	Left Ventricle	heart
40	chr10:50669600-50674600	Weak transcription	HSMMtube	muscle
41	chr10:50669600-50674600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr10:50669600-50674800	Weak transcription	Brain Hippocampus Middle	brain
43	chr10:50669600-50675200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr10:50669600-50675200	Weak transcription	Pancreas	Pancrea
45	chr10:50669600-50675200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr10:50669600-50675200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr10:50669600-50675600	Weak transcription	Fetal Intestine Large	intestine
48	chr10:50669600-50675600	Weak transcription	Gastric	stomach
49	chr10:50669600-50675800	Weak transcription	Brain Anterior Caudate	brain
50	chr10:50669600-50675800	Weak transcription	Rectal Smooth Muscle	rectum

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