Variant report

Variant	rs12190917
Chromosome Location	chr6:12017342-12017343
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	chr6:11944959..11946761-chr6:12016853..12018812,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12189667	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12190182	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12191113	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12192522	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12198183	1.00[EUR][1000 genomes]
rs12199764	0.90[ASN][1000 genomes]
rs12202320	1.00[EUR][1000 genomes]
rs12202388	1.00[EUR][1000 genomes]
rs12202981	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12204035	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12205721	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12208282	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12210876	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212747	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12213062	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12213771	0.83[ASN][1000 genomes]
rs12216165	1.00[EUR][1000 genomes]
rs28489887	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28888496	1.00[EUR][1000 genomes]
rs57671359	0.90[ASN][1000 genomes]
rs58002962	1.00[EUR][1000 genomes]
rs60027663	1.00[EUR][1000 genomes]
rs60683973	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60765903	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6939106	0.92[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	nsv970323	chr6:12006884-12020375	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12013800-12017400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:12013800-12017400	Weak transcription	Gastric	stomach
3	chr6:12013800-12018200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:12013800-12033600	Weak transcription	Psoas Muscle	Psoas
5	chr6:12014000-12017400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:12014000-12017400	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:12014000-12020400	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:12014000-12023200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:12014000-12023200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:12014000-12031800	Weak transcription	Brain Substantia Nigra	brain
11	chr6:12014400-12017400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:12014400-12020200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:12014400-12023200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:12014400-12024800	Weak transcription	Stomach Mucosa	stomach
15	chr6:12014400-12030000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:12014600-12017400	Weak transcription	Fetal Brain Female	brain
17	chr6:12014600-12017600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:12014600-12020400	Weak transcription	Fetal Heart	heart
19	chr6:12014600-12020600	Weak transcription	Right Atrium	heart
20	chr6:12014600-12021800	ZNF genes & repeats	GM12878-XiMat	blood
21	chr6:12014600-12032000	Weak transcription	Brain Angular Gyrus	brain
22	chr6:12014800-12017600	Weak transcription	Brain Germinal Matrix	brain
23	chr6:12015000-12021000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:12015000-12022000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:12015000-12022000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr6:12015000-12022000	Strong transcription	Fetal Muscle Leg	muscle
27	chr6:12015200-12018200	Strong transcription	Fetal Intestine Large	intestine
28	chr6:12015200-12020200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:12015200-12021200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:12015200-12021400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:12015200-12021800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr6:12015200-12023400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:12015200-12024600	Weak transcription	NHDF-Ad	bronchial
34	chr6:12015400-12017400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:12015400-12017400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:12015400-12017400	Strong transcription	Fetal Thymus	thymus
37	chr6:12015400-12017800	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr6:12015400-12020400	Weak transcription	Aorta	Aorta
39	chr6:12015400-12021000	Strong transcription	NHLF	lung
40	chr6:12015400-12021400	Strong transcription	NHEK	skin
41	chr6:12015400-12023200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:12015400-12025000	Weak transcription	Small Intestine	intestine
43	chr6:12015400-12025400	Strong transcription	Liver	Liver
44	chr6:12015400-12029200	Weak transcription	Brain Anterior Caudate	brain
45	chr6:12015400-12034000	Weak transcription	Hela-S3	cervix
46	chr6:12015600-12017600	Enhancers	Primary T cells from cord blood	blood
47	chr6:12015600-12017800	Strong transcription	Primary B cells from cord blood	blood
48	chr6:12015600-12022000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:12015600-12023000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:12015800-12019400	Strong transcription	HSMM	muscle

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