Variant report

Variant	rs73976747
Chromosome Location	chr2:178375635-178375636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178374449..178377274-chr2:178385680..178388103,2	K562	blood:
2	chr2:178373990..178377419-chr2:178378433..178381061,3	K562	blood:
3	chr2:178351127..178353542-chr2:178374261..178376557,2	K562	blood:
4	chr2:178371514..178373660-chr2:178374723..178376312,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16865285	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865420	0.83[AFR][1000 genomes]
rs1867904	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41493944	0.83[AFR][1000 genomes]
rs59509234	0.83[AFR][1000 genomes]
rs60131586	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6736063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977640	0.83[AFR][1000 genomes]
rs73977641	0.83[AFR][1000 genomes]
rs73977642	0.83[AFR][1000 genomes]
rs73977653	0.83[AFR][1000 genomes]
rs73977654	0.83[AFR][1000 genomes]
rs73979737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:178331000-178378600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:178331200-178378600	Weak transcription	Placenta	Placenta
4	chr2:178331200-178379200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:178331400-178388400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:178331600-178385600	Weak transcription	Spleen	Spleen
7	chr2:178331800-178375800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:178331800-178375800	Weak transcription	Pancreas	Pancrea
9	chr2:178331800-178389400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:178332000-178392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:178332000-178393800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:178335000-178410600	Weak transcription	Thymus	Thymus
13	chr2:178337600-178386200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:178338000-178403000	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:178339800-178394400	Weak transcription	Hela-S3	cervix
16	chr2:178342400-178392000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:178342600-178391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:178343800-178379400	Weak transcription	NHEK	skin
19	chr2:178343800-178391200	Weak transcription	HMEC	breast
20	chr2:178344800-178381200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:178348400-178402600	Weak transcription	NHDF-Ad	bronchial
22	chr2:178349800-178377600	Weak transcription	Fetal Intestine Small	intestine
23	chr2:178349800-178378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:178349800-178383400	Weak transcription	Fetal Stomach	stomach
25	chr2:178349800-178407800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:178350000-178407000	Weak transcription	Osteobl	bone
27	chr2:178354000-178377400	Weak transcription	GM12878-XiMat	blood
28	chr2:178354600-178392000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:178355000-178380600	Weak transcription	Fetal Heart	heart
30	chr2:178355000-178384400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:178356000-178405400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:178356400-178384400	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:178358200-178379200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:178358400-178390000	Weak transcription	Colonic Mucosa	Colon
35	chr2:178358600-178378400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:178358600-178378800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:178358600-178378800	Weak transcription	Fetal Intestine Large	intestine
38	chr2:178358600-178378800	Weak transcription	Fetal Kidney	kidney
39	chr2:178358600-178379200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:178358600-178381400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:178358600-178384000	Weak transcription	Fetal Lung	lung
42	chr2:178358600-178384400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:178358600-178386800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:178358600-178388400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:178358600-178406000	Weak transcription	Ovary	ovary
46	chr2:178358600-178417000	Weak transcription	Aorta	Aorta
47	chr2:178358800-178388600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:178358800-178396600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:178359600-178378000	Weak transcription	HSMMtube	muscle
50	chr2:178359800-178386000	Weak transcription	Muscle Satellite Cultured Cells	--

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