Variant report

Variant	rs1208609
Chromosome Location	chr10:38244074-38244075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1208570	1.00[EUR][1000 genomes]
rs1208588	1.00[EUR][1000 genomes]
rs1208595	0.98[EUR][1000 genomes]
rs1208630	0.96[EUR][1000 genomes]
rs1779032	1.00[EUR][1000 genomes]
rs1779079	1.00[EUR][1000 genomes]
rs200908	0.84[EUR][1000 genomes]
rs200911	0.84[EUR][1000 genomes]
rs200932	0.84[EUR][1000 genomes]
rs200938	0.92[EUR][1000 genomes]
rs2474577	0.92[EUR][1000 genomes]
rs2504122	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2504125	0.92[EUR][1000 genomes]
rs2504146	0.88[EUR][1000 genomes]
rs2738220	1.00[EUR][1000 genomes]
rs41276140	1.00[EUR][1000 genomes]
rs581482	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1052703	chr10:38174640-38266472	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38236800-38249000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr10:38237800-38247200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:38238000-38244200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:38238000-38248600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr10:38238400-38253000	Weak transcription	Fetal Intestine Small	intestine
6	chr10:38238600-38246400	Strong transcription	Psoas Muscle	Psoas
7	chr10:38238800-38248600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:38239000-38247000	Strong transcription	Left Ventricle	heart
9	chr10:38239000-38249400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr10:38239200-38246600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr10:38239200-38248000	Strong transcription	Adipose Nuclei	Adipose
12	chr10:38239400-38247400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:38239400-38247800	Strong transcription	Brain Hippocampus Middle	brain
14	chr10:38239400-38248200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr10:38239600-38245800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:38239600-38246400	Strong transcription	Brain Substantia Nigra	brain
17	chr10:38239600-38264400	Weak transcription	Fetal Heart	heart
18	chr10:38239600-38264600	Weak transcription	Stomach Mucosa	stomach
19	chr10:38240000-38246600	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr10:38240000-38247600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr10:38240200-38244400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:38240200-38247800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:38240400-38244200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:38240400-38246800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr10:38240400-38247600	Strong transcription	Fetal Lung	lung
26	chr10:38240400-38249200	Strong transcription	Ovary	ovary
27	chr10:38240600-38244600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:38240600-38247400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr10:38240600-38247400	Strong transcription	NHDF-Ad	bronchial
30	chr10:38240600-38247800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr10:38240600-38248200	Strong transcription	Fetal Muscle Leg	muscle
32	chr10:38240800-38246400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr10:38240800-38264000	Weak transcription	NHLF	lung
34	chr10:38241000-38244400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr10:38241000-38244400	Strong transcription	Fetal Brain Male	brain
36	chr10:38241000-38245200	Strong transcription	Fetal Intestine Large	intestine
37	chr10:38241000-38246000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:38241000-38246400	Strong transcription	Brain Germinal Matrix	brain
39	chr10:38241000-38246600	Strong transcription	Colon Smooth Muscle	Colon
40	chr10:38241000-38247400	Strong transcription	Brain Angular Gyrus	brain
41	chr10:38241000-38247400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr10:38241000-38247800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:38241000-38248200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:38241200-38247400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr10:38241200-38247400	Strong transcription	Brain Anterior Caudate	brain
46	chr10:38241200-38249600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr10:38241800-38244400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:38241800-38249000	Weak transcription	Small Intestine	intestine
49	chr10:38241800-38264400	Weak transcription	NHEK	skin
50	chr10:38242000-38248400	Strong transcription	Stomach Smooth Muscle	stomach

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