Variant report

Variant	rs12075595
Chromosome Location	chr1:209927822-209927823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11119333	1.00[EUR][1000 genomes]
rs12024779	1.00[EUR][1000 genomes]
rs12040780	1.00[EUR][1000 genomes]
rs17015053	1.00[EUR][1000 genomes]
rs17015095	1.00[EUR][1000 genomes]
rs17015099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56679555	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57606822	1.00[EUR][1000 genomes]
rs58627173	1.00[EUR][1000 genomes]
rs61279558	1.00[EUR][1000 genomes]
rs6680324	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1001588	chr1:209908876-209938243	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209921400-209929800	Weak transcription	Right Atrium	heart
2	chr1:209921400-209930000	Weak transcription	Right Ventricle	heart
3	chr1:209921800-209929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:209921800-209930000	Weak transcription	Stomach Mucosa	stomach
5	chr1:209921800-209940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:209921800-209942000	Weak transcription	Pancreas	Pancrea
7	chr1:209922000-209928800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:209922400-209931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:209925400-209928400	Weak transcription	Thymus	Thymus
10	chr1:209925400-209929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:209925600-209928600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:209925600-209929000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:209925800-209928400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:209925800-209928400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:209925800-209928400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:209925800-209928800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:209925800-209928800	Weak transcription	Fetal Intestine Small	intestine
18	chr1:209926000-209928200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:209926000-209928400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:209926000-209928400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:209926000-209928600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:209926000-209928800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:209926000-209928800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr1:209926000-209928800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:209926000-209929000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:209926000-209929600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:209926200-209928600	Weak transcription	Fetal Intestine Large	intestine
28	chr1:209926600-209928200	Weak transcription	Primary B cells from cord blood	blood
29	chr1:209926600-209928200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:209926800-209928200	Weak transcription	GM12878-XiMat	blood
31	chr1:209927600-209929000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr1:209927800-209928600	Enhancers	Primary T cells from cord blood	blood
33	chr1:209927800-209928600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:209927800-209928800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:209927800-209928800	Enhancers	Fetal Thymus	thymus
36	chr1:209927800-209929000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:209927800-209929000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:209927800-209929200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:209927800-209929400	Enhancers	Primary monocytes fromperipheralblood	blood

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