Variant report

Variant	rs12573372
Chromosome Location	chr10:28418258-28418259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11006849	0.93[JPT][hapmap]
rs11006853	1.00[JPT][hapmap]
rs11006885	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11006887	0.92[AFR][1000 genomes]
rs11006891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11006896	0.80[CHB][hapmap]
rs12251727	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12254584	0.80[CHB][hapmap]
rs12261363	0.84[CHB][hapmap]
rs4749304	1.00[JPT][hapmap]
rs7081378	0.80[CHB][hapmap]
rs7085245	0.80[CHB][hapmap]
rs7101051	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1042524	chr10:28290149-28506812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831816	chr10:28304698-28493635	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv525448	chr10:28337570-28563732	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv831817	chr10:28369836-28539930	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1848511	chr10:28373644-28464753	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv894989	chr10:28384098-28449974	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv949151	chr10:28386125-28455221	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1845096	chr10:28405411-28423204	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28367800-28420200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:28376000-28438400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr10:28378000-28418400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:28378600-28425600	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:28396400-28422400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:28403600-28443200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr10:28406600-28421600	Weak transcription	Primary B cells from cord blood	blood
8	chr10:28407600-28418800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr10:28409400-28418800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:28409600-28427800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:28410200-28419200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:28410400-28420600	Weak transcription	HepG2	liver
13	chr10:28411000-28421000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr10:28413000-28424200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr10:28413200-28419200	Weak transcription	HMEC	breast
16	chr10:28413200-28426200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:28413200-28440600	Weak transcription	Left Ventricle	heart
18	chr10:28413400-28419000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr10:28413400-28419400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr10:28413800-28425400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:28414000-28419200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:28414200-28418600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr10:28414200-28418800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr10:28414200-28418800	Weak transcription	HSMMtube	muscle
25	chr10:28414200-28420800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr10:28414800-28419200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:28415000-28418600	Weak transcription	HSMM	muscle
28	chr10:28415000-28419200	Weak transcription	Fetal Lung	lung
29	chr10:28415200-28418800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr10:28415200-28419000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:28415200-28419200	Weak transcription	NH-A	brain
32	chr10:28415200-28419200	Weak transcription	Osteobl	bone
33	chr10:28416000-28419000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:28416000-28422000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr10:28416200-28420600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr10:28416200-28425200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr10:28416800-28423800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:28417000-28418800	Weak transcription	Hela-S3	cervix
39	chr10:28417000-28421000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr10:28417000-28449200	Weak transcription	Pancreas	Pancrea
41	chr10:28417200-28418800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:28417200-28419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:28417200-28421200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:28417200-28421600	Weak transcription	Lung	lung
45	chr10:28417200-28422000	Weak transcription	Fetal Intestine Small	intestine
46	chr10:28417200-28422600	Weak transcription	Fetal Stomach	stomach
47	chr10:28417600-28419200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr10:28417600-28419200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr10:28417600-28458000	Weak transcription	Aorta	Aorta
50	chr10:28418000-28419200	Weak transcription	Primary T cells from cord blood	blood

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