Variant report

Variant	rs17620142
Chromosome Location	chr12:21593007-21593008
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21591250..21594769-chr12:21604296..21607496,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492116	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17619644	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17619980	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17682057	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17682270	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71537696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71582885	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7304732	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73246585	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73249910	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74067201	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21591400-21594800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21591400-21594800	Weak transcription	Esophagus	oesophagus
3	chr12:21591400-21594800	Weak transcription	Gastric	stomach
4	chr12:21591400-21594800	Weak transcription	Left Ventricle	heart
5	chr12:21591400-21594800	Weak transcription	Lung	lung
6	chr12:21591400-21594800	Weak transcription	Spleen	Spleen
7	chr12:21591400-21595400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:21591400-21602800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:21591600-21594000	Weak transcription	Fetal Intestine Large	intestine
10	chr12:21591600-21594200	Weak transcription	Fetal Stomach	stomach
11	chr12:21591600-21594400	Weak transcription	Placenta	Placenta
12	chr12:21591600-21594600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:21591600-21594600	Weak transcription	Ovary	ovary
14	chr12:21591600-21594800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:21591600-21594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:21591600-21594800	Weak transcription	Aorta	Aorta
17	chr12:21591600-21594800	Weak transcription	Brain Germinal Matrix	brain
18	chr12:21591600-21594800	Weak transcription	Colonic Mucosa	Colon
19	chr12:21591600-21594800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:21591600-21594800	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:21591600-21594800	Weak transcription	Pancreas	Pancrea
22	chr12:21591600-21598600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:21591600-21599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:21591600-21609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:21591600-21609000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:21591600-21609200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:21591800-21593200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:21591800-21593400	Enhancers	Primary B cells from cord blood	blood
29	chr12:21591800-21593600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr12:21591800-21594200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:21591800-21594200	Weak transcription	Fetal Lung	lung
32	chr12:21591800-21594600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:21591800-21594800	Weak transcription	Fetal Thymus	thymus
34	chr12:21591800-21594800	Weak transcription	Right Ventricle	heart
35	chr12:21591800-21595000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:21591800-21595000	Weak transcription	Fetal Brain Female	brain
37	chr12:21591800-21598600	Weak transcription	Fetal Brain Male	brain
38	chr12:21591800-21599000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:21591800-21600000	Weak transcription	HSMM	muscle
40	chr12:21591800-21601000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:21591800-21609000	Weak transcription	Fetal Heart	heart
42	chr12:21591800-21611000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:21591800-21614600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:21591800-21614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:21592000-21593400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:21592000-21593400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:21592000-21593400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:21592000-21593600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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