Variant report

Variant	rs3857468
Chromosome Location	chr6:76605340-76605341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1280039	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1280044	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1280047	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1280048	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038624	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2038625	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276697	0.82[EUR][1000 genomes]
rs276698	0.82[EUR][1000 genomes]
rs3798439	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822957	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6453845	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6905047	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6906615	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6938349	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6942367	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9359139	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9443189	0.83[EUR][1000 genomes];0.83[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	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1032961	chr6:76343575-76788852	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv932201	chr6:76365548-77219650	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1028340	chr6:76410921-76960225	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv538319	chr6:76410921-76960225	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76543000-76615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:76573000-76624000	Weak transcription	Placenta	Placenta
3	chr6:76573600-76606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:76573800-76607200	Weak transcription	Gastric	stomach
5	chr6:76573800-76608400	Weak transcription	Esophagus	oesophagus
6	chr6:76574400-76632600	Weak transcription	Spleen	Spleen
7	chr6:76577200-76624600	Weak transcription	Fetal Kidney	kidney
8	chr6:76583400-76606200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:76583800-76624600	Weak transcription	Pancreas	Pancrea
10	chr6:76584000-76605600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:76584200-76608400	Weak transcription	Aorta	Aorta
12	chr6:76584200-76629400	Weak transcription	Ovary	ovary
13	chr6:76584400-76623800	Weak transcription	Lung	lung
14	chr6:76584800-76615200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:76584800-76644600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:76585000-76608200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:76585800-76608000	Weak transcription	NH-A	brain
18	chr6:76585800-76624000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:76585800-76624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:76585800-76626800	Weak transcription	Left Ventricle	heart
21	chr6:76585800-76644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:76586000-76627600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:76586200-76624400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:76586400-76607800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:76587600-76623800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:76592000-76606000	Weak transcription	Adipose Nuclei	Adipose
27	chr6:76592200-76605400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:76592600-76624400	Weak transcription	Osteobl	bone
29	chr6:76592800-76606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:76592800-76631800	Weak transcription	NHEK	skin
31	chr6:76593200-76606000	Weak transcription	HSMM	muscle
32	chr6:76593200-76606200	Weak transcription	NHDF-Ad	bronchial
33	chr6:76594400-76608400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:76594600-76632200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:76597200-76608400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:76597200-76624600	Weak transcription	Brain Angular Gyrus	brain
37	chr6:76600200-76631800	Weak transcription	HMEC	breast
38	chr6:76600400-76624600	Weak transcription	Brain Substantia Nigra	brain
39	chr6:76600600-76608200	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:76601400-76611600	Weak transcription	Fetal Stomach	stomach
41	chr6:76601600-76606000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:76601800-76606000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:76602400-76619200	Weak transcription	HUVEC	blood vessel
44	chr6:76602600-76624400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:76603400-76606800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr6:76603600-76605800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:76603600-76606200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:76603600-76606200	Weak transcription	Brain Anterior Caudate	brain
49	chr6:76603600-76606200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:76603600-76619000	Weak transcription	Liver	Liver

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