Variant report

Variant	rs12199075
Chromosome Location	chr6:12155733-12155734
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	chr6:12147758..12151335-chr6:12153280..12156085,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10947758	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10947793	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12213070	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13193986	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13206426	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13209918	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998528	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228209	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2228210	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2228213	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228215	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3777755	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3777760	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777761	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3777776	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3822925	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4377779	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4467770	0.81[ASN][1000 genomes]
rs4714201	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4714232	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6939913	0.83[ASN][1000 genomes]
rs7383768	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7752678	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9296258	0.80[ASN][1000 genomes]
rs9357299	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9366985	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9369076	0.80[ASN][1000 genomes]
rs9369083	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9369108	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9380781	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380790	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380859	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394538	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394569	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9394605	0.81[ASN][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	nsv830586	chr6:12130076-12295334	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12122200-12161800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:12137000-12163600	Weak transcription	Small Intestine	intestine
3	chr6:12139000-12161600	Weak transcription	HepG2	liver
4	chr6:12140200-12161800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:12140600-12158400	Weak transcription	Aorta	Aorta
6	chr6:12140600-12158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:12140600-12158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:12140600-12161400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:12140600-12161400	Weak transcription	Pancreas	Pancrea
10	chr6:12140600-12161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:12140600-12161400	Weak transcription	Spleen	Spleen
12	chr6:12140600-12161600	Weak transcription	Esophagus	oesophagus
13	chr6:12140600-12161800	Weak transcription	Gastric	stomach
14	chr6:12140600-12163600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:12140600-12163600	Weak transcription	Psoas Muscle	Psoas
16	chr6:12140600-12163800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:12140800-12156200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:12140800-12158600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:12140800-12158800	Weak transcription	Fetal Stomach	stomach
20	chr6:12140800-12160400	Weak transcription	Primary B cells from cord blood	blood
21	chr6:12140800-12160400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:12140800-12160600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:12140800-12161000	Weak transcription	Adipose Nuclei	Adipose
24	chr6:12140800-12161400	Weak transcription	Thymus	Thymus
25	chr6:12140800-12161600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:12140800-12161600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:12140800-12161800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:12140800-12161800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:12140800-12161800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:12140800-12162800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:12141000-12158600	Weak transcription	Fetal Kidney	kidney
32	chr6:12141000-12161600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:12141000-12161600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:12141000-12161800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:12141200-12162400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:12141800-12161600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:12148000-12161800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:12148800-12158800	Weak transcription	Lung	lung
39	chr6:12148800-12161400	Weak transcription	Left Ventricle	heart
40	chr6:12149400-12159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:12149400-12160200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:12149400-12160200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:12149400-12160400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:12149400-12160400	Weak transcription	HSMMtube	muscle
45	chr6:12149400-12160600	Weak transcription	Fetal Thymus	thymus
46	chr6:12149400-12161000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:12149400-12161800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:12149400-12163600	Weak transcription	HMEC	breast
49	chr6:12149600-12161800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:12149800-12160400	Weak transcription	NHDF-Ad	bronchial

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