Variant report

Variant	rs646871
Chromosome Location	chr8:61470483-61470484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10088058	0.86[EUR][1000 genomes]
rs10101758	0.86[EUR][1000 genomes]
rs13254748	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13272533	0.86[EUR][1000 genomes]
rs13277273	0.82[ASN][1000 genomes]
rs13438846	0.82[EUR][1000 genomes]
rs16926232	0.82[ASN][1000 genomes]
rs1893278	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1941464	0.82[ASN][1000 genomes]
rs28897378	0.86[EUR][1000 genomes]
rs3886101	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs623910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6994818	0.82[EUR][1000 genomes]
rs7821955	0.82[ASN][1000 genomes]
rs7841536	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3384611	chr8:61461615-61480346	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
2	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
3	chr8:61434800-61480600	Weak transcription	HMEC	breast
4	chr8:61435400-61470800	Weak transcription	NHEK	skin
5	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
7	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:61443800-61472800	Weak transcription	Thymus	Thymus
10	chr8:61447600-61472600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:61449000-61473800	Weak transcription	HSMMtube	muscle
13	chr8:61449400-61472800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:61451400-61472400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:61451400-61472400	Weak transcription	Ovary	ovary
16	chr8:61451400-61472600	Weak transcription	Fetal Stomach	stomach
17	chr8:61451400-61472600	Weak transcription	Spleen	Spleen
18	chr8:61451400-61482200	Weak transcription	Right Ventricle	heart
19	chr8:61451800-61475800	Weak transcription	Fetal Heart	heart
20	chr8:61452400-61472400	Weak transcription	Liver	Liver
21	chr8:61453400-61472600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:61453800-61470600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:61454600-61472400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:61455000-61472600	Weak transcription	Left Ventricle	heart
25	chr8:61455600-61471200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:61455800-61475400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:61456200-61471200	Weak transcription	Fetal Thymus	thymus
28	chr8:61456200-61472800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:61457800-61475800	Weak transcription	K562	blood
30	chr8:61458200-61470600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:61458200-61471200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:61458200-61472800	Weak transcription	Pancreas	Pancrea
33	chr8:61458200-61480600	Weak transcription	Gastric	stomach
34	chr8:61458200-61497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:61459000-61472400	Weak transcription	A549	lung
36	chr8:61459200-61470600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:61459400-61495800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:61461200-61474200	Weak transcription	Fetal Kidney	kidney
39	chr8:61462400-61472400	Weak transcription	Fetal Intestine Large	intestine
40	chr8:61462800-61470800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:61462800-61471400	Weak transcription	Dnd41	blood
42	chr8:61462800-61474000	Weak transcription	NH-A	brain
43	chr8:61463200-61470600	Weak transcription	Osteobl	bone
44	chr8:61463600-61482200	Weak transcription	Esophagus	oesophagus
45	chr8:61463800-61473400	Weak transcription	Psoas Muscle	Psoas
46	chr8:61464000-61471400	Weak transcription	HSMM	muscle
47	chr8:61464400-61470600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:61466000-61474200	Weak transcription	Right Atrium	heart
49	chr8:61466200-61471600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:61466400-61470600	Weak transcription	Brain Cingulate Gyrus	brain

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