Variant report

Variant	rs17194523
Chromosome Location	chr6:30149210-30149211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30146840..30149453-chr6:30151238..30153459,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17188212	0.94[ASN][1000 genomes]
rs17194565	0.94[ASN][1000 genomes]
rs2021364	0.85[ASN][1000 genomes]
rs3778625	0.85[ASN][1000 genomes]
rs3885828	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4711210	0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4713297	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4713298	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4713302	0.88[ASN][1000 genomes]
rs4713312	0.85[ASN][1000 genomes]
rs4713313	0.85[ASN][1000 genomes]
rs56707099	0.85[ASN][1000 genomes]
rs57686281	0.88[ASN][1000 genomes]
rs57708012	0.82[ASN][1000 genomes]
rs61619108	0.85[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	nsv884057	chr6:30140540-30149251	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30139000-30152000	Weak transcription	Liver	Liver
2	chr6:30145000-30173800	Weak transcription	Right Atrium	heart
3	chr6:30147600-30150800	Weak transcription	HepG2	liver
4	chr6:30147800-30152000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:30148000-30151600	Weak transcription	Primary T cells from cord blood	blood
6	chr6:30148000-30152000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:30148000-30152000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:30148000-30152200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:30148000-30152200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:30148000-30152600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:30148000-30155000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr6:30148000-30173000	Weak transcription	Fetal Heart	heart
13	chr6:30148200-30152000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:30148200-30152400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:30148200-30154800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:30148400-30154000	Weak transcription	HUVEC	blood vessel
17	chr6:30148800-30152000	Weak transcription	Brain Angular Gyrus	brain
18	chr6:30148800-30152200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:30149000-30149800	ZNF genes & repeats	Pancreas	Pancrea
20	chr6:30149000-30150000	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr6:30149000-30151800	Weak transcription	Brain Substantia Nigra	brain
22	chr6:30149000-30152000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:30149000-30152200	Weak transcription	Primary B cells from cord blood	blood
24	chr6:30149000-30152400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:30149000-30152800	Weak transcription	Fetal Brain Male	brain
26	chr6:30149000-30156400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:30149200-30149400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:30149200-30149400	ZNF genes & repeats	Esophagus	oesophagus
29	chr6:30149200-30149800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:30149200-30149800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:30149200-30149800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:30149200-30150000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:30149200-30150000	Active TSS	Spleen	Spleen
34	chr6:30149200-30152200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr6:30149200-30152200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:30149200-30152400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:30149200-30152600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:30149200-30152600	Weak transcription	HMEC	breast
39	chr6:30149200-30157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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