Variant report

Variant	rs12092458
Chromosome Location	chr1:173431311-173431312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10912620	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11484638	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12058528	0.81[AFR][1000 genomes]
rs12061817	0.95[AFR][1000 genomes]
rs12088949	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12089119	0.93[AFR][1000 genomes]
rs6656413	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173419000-173432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:173419000-173439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:173421000-173432200	Weak transcription	Fetal Brain Male	brain
4	chr1:173421400-173434000	Weak transcription	Psoas Muscle	Psoas
5	chr1:173423200-173432000	Weak transcription	A549	lung
6	chr1:173423400-173432600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:173423600-173432600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:173423800-173433400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:173423800-173436600	Weak transcription	NHDF-Ad	bronchial
10	chr1:173423800-173442400	Weak transcription	NH-A	brain
11	chr1:173425200-173442400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:173425400-173432200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:173426000-173431400	Weak transcription	Fetal Kidney	kidney
14	chr1:173428600-173431600	Strong transcription	Liver	Liver
15	chr1:173428800-173431400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:173428800-173431400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:173428800-173431400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:173428800-173431400	Strong transcription	Brain Anterior Caudate	brain
19	chr1:173428800-173432000	Strong transcription	Primary T cells from cord blood	blood
20	chr1:173429000-173431400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:173429000-173431400	Strong transcription	Spleen	Spleen
22	chr1:173429000-173431400	Strong transcription	HSMM	muscle
23	chr1:173429000-173431800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:173429000-173432600	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:173429200-173431400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:173429400-173431400	Strong transcription	Dnd41	blood
27	chr1:173429400-173431800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:173429400-173433600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:173429400-173439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:173429600-173431400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:173429600-173431400	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:173429600-173433400	Weak transcription	HMEC	breast
33	chr1:173429800-173431400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:173430200-173431400	Strong transcription	K562	blood
35	chr1:173430400-173435000	Weak transcription	Brain Angular Gyrus	brain
36	chr1:173430400-173437200	Weak transcription	NHLF	lung
37	chr1:173430400-173437800	Weak transcription	Esophagus	oesophagus
38	chr1:173430400-173439200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:173430400-173442400	Weak transcription	Gastric	stomach
40	chr1:173430400-173442800	Weak transcription	Pancreas	Pancrea
41	chr1:173430400-173444400	Weak transcription	Right Ventricle	heart
42	chr1:173430600-173431800	Weak transcription	Fetal Intestine Small	intestine
43	chr1:173430600-173432000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:173430600-173432400	Weak transcription	Colonic Mucosa	Colon
45	chr1:173430600-173433200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:173430600-173438000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:173430600-173438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:173430600-173439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:173430600-173439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:173430600-173442600	Weak transcription	Aorta	Aorta

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