Variant report

Variant	rs12243997
Chromosome Location	chr10:22068789-22068790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11012789	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12251847	1.00[AMR][1000 genomes]
rs12260551	1.00[AMR][1000 genomes]
rs12265097	1.00[EUR][1000 genomes]
rs12266219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12266450	1.00[AMR][1000 genomes]
rs7085638	1.00[EUR][1000 genomes]
rs7904218	1.00[AMR][1000 genomes]
rs7911585	1.00[AMR][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	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv894947	chr10:21869609-22117913	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22034400-22074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:22047200-22074000	Weak transcription	K562	blood
3	chr10:22048000-22109000	Weak transcription	Ovary	ovary
4	chr10:22048200-22069200	Weak transcription	Right Ventricle	heart
5	chr10:22048200-22074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:22048400-22070400	Weak transcription	Pancreas	Pancrea
7	chr10:22048400-22087400	Weak transcription	Aorta	Aorta
8	chr10:22048400-22094800	Weak transcription	Small Intestine	intestine
9	chr10:22048400-22099200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:22048600-22074000	Weak transcription	Left Ventricle	heart
11	chr10:22048600-22074000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:22048600-22076400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:22048600-22076600	Weak transcription	Gastric	stomach
14	chr10:22048800-22079600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:22048800-22114000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:22049000-22086400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:22049400-22074000	Weak transcription	Liver	Liver
18	chr10:22054200-22076600	Weak transcription	Fetal Lung	lung
19	chr10:22055400-22095600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:22061000-22077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:22062200-22088800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr10:22066000-22113000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:22067000-22078600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr10:22067200-22077200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr10:22067400-22079000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr10:22068400-22069800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:22068400-22074000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:22068400-22074000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr10:22068400-22074000	Weak transcription	Lung	lung
30	chr10:22068400-22074200	Weak transcription	Fetal Intestine Small	intestine
31	chr10:22068400-22076400	Weak transcription	Fetal Stomach	stomach
32	chr10:22068400-22076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:22068600-22069800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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