Variant report

Variant	rs17762970
Chromosome Location	chr6:71442673-71442674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10498877	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1124225	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16869501	1.00[EUR][1000 genomes]
rs17696189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17707634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17751154	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17762988	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17763018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17763391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17763666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17764105	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2180733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35711050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41265359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs730649	1.00[AMR][1000 genomes];1.00[EUR][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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh 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	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71426200-71443800	Weak transcription	Lung	lung
2	chr6:71426200-71451000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:71426400-71443000	Weak transcription	Primary B cells from cord blood	blood
4	chr6:71427400-71444200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:71428200-71476400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:71435000-71443200	Weak transcription	Fetal Intestine Small	intestine
7	chr6:71435200-71444000	Weak transcription	Fetal Stomach	stomach
8	chr6:71435400-71443200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:71435400-71443800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:71435400-71451000	Weak transcription	Fetal Thymus	thymus
11	chr6:71435400-71451000	Weak transcription	Ovary	ovary
12	chr6:71435400-71451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:71435800-71443000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:71435800-71443000	Weak transcription	Dnd41	blood
15	chr6:71435800-71443800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:71435800-71444200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:71435800-71450400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:71435800-71477600	Weak transcription	HSMM	muscle
19	chr6:71436000-71442800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:71436000-71443200	Weak transcription	Adipose Nuclei	Adipose
21	chr6:71436000-71449800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:71436200-71442800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:71436200-71446600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:71436200-71450200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:71436200-71451000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:71436200-71451400	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:71436200-71452200	Weak transcription	A549	lung
28	chr6:71436200-71453600	Weak transcription	Brain Substantia Nigra	brain
29	chr6:71436200-71470200	Weak transcription	NHDF-Ad	bronchial
30	chr6:71436600-71444200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:71436800-71446800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:71437200-71464800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:71437600-71451200	Weak transcription	Esophagus	oesophagus
34	chr6:71438000-71451200	Weak transcription	Brain Angular Gyrus	brain
35	chr6:71438200-71453200	Weak transcription	Brain Anterior Caudate	brain
36	chr6:71438400-71452600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr6:71438400-71468000	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:71438400-71474000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:71438800-71443600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:71439200-71443200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:71439600-71442800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:71439600-71474800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:71439800-71445800	Weak transcription	HepG2	liver
44	chr6:71439800-71457000	Weak transcription	Right Ventricle	heart
45	chr6:71440000-71443200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:71440000-71451000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:71440000-71451200	Weak transcription	Gastric	stomach
48	chr6:71440400-71488800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:71440800-71443200	Weak transcription	Left Ventricle	heart
50	chr6:71440800-71444200	Weak transcription	Primary monocytes fromperipheralblood	blood

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