Variant report

Variant	rs73031244
Chromosome Location	chr2:178358874-178358875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178357170..178361167-chr2:178362670..178365419,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16865334	0.83[AMR][1000 genomes]
rs60605045	0.89[AFR][1000 genomes]
rs6726942	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6731209	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73025650	0.86[AFR][1000 genomes]
rs73025657	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025664	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73025688	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73025689	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73029113	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73029114	1.00[AMR][1000 genomes]
rs73029117	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031241	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73031280	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7568487	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7573086	1.00[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:178331000-178361600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:178331000-178378600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:178331200-178378600	Weak transcription	Placenta	Placenta
5	chr2:178331200-178379200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:178331400-178388400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:178331600-178385600	Weak transcription	Spleen	Spleen
8	chr2:178331800-178360600	Weak transcription	Lung	lung
9	chr2:178331800-178373800	Weak transcription	Gastric	stomach
10	chr2:178331800-178375800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:178331800-178375800	Weak transcription	Pancreas	Pancrea
12	chr2:178331800-178389400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:178332000-178392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:178332000-178393800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:178335000-178410600	Weak transcription	Thymus	Thymus
16	chr2:178337600-178386200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:178338000-178403000	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:178339000-178359800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:178339800-178394400	Weak transcription	Hela-S3	cervix
20	chr2:178342400-178392000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:178342600-178391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:178343800-178379400	Weak transcription	NHEK	skin
23	chr2:178343800-178391200	Weak transcription	HMEC	breast
24	chr2:178344000-178374000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:178344200-178371000	Weak transcription	A549	lung
26	chr2:178344800-178381200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:178345400-178360000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:178348000-178375000	Weak transcription	Adipose Nuclei	Adipose
29	chr2:178348400-178402600	Weak transcription	NHDF-Ad	bronchial
30	chr2:178349800-178374600	Weak transcription	Left Ventricle	heart
31	chr2:178349800-178377600	Weak transcription	Fetal Intestine Small	intestine
32	chr2:178349800-178378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:178349800-178383400	Weak transcription	Fetal Stomach	stomach
34	chr2:178349800-178407800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:178350000-178362400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:178350000-178407000	Weak transcription	Osteobl	bone
37	chr2:178354000-178377400	Weak transcription	GM12878-XiMat	blood
38	chr2:178354600-178392000	Weak transcription	Brain Anterior Caudate	brain
39	chr2:178355000-178380600	Weak transcription	Fetal Heart	heart
40	chr2:178355000-178384400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:178355400-178359000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:178355800-178360200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:178355800-178360400	Strong transcription	HepG2	liver
44	chr2:178356000-178405400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:178356400-178360200	Strong transcription	Dnd41	blood
46	chr2:178356400-178384400	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:178356600-178359800	Strong transcription	HSMM	muscle
48	chr2:178356600-178360000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:178356800-178359000	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr2:178357400-178360000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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