Variant report

Variant	rs17126100
Chromosome Location	chr12:62715730-62715731
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62696269..62698660-chr12:62715380..62717526,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17126063	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126124	0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56079604	1.00[AMR][1000 genomes]
rs58529824	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59103242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60606440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61035483	1.00[AMR][1000 genomes]
rs61541331	1.00[AMR][1000 genomes]
rs7131719	1.00[AMR][1000 genomes]
rs7295871	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7303666	0.81[AFR][1000 genomes]
rs74095707	1.00[AMR][1000 genomes]
rs74095709	1.00[AMR][1000 genomes]
rs74095716	1.00[AMR][1000 genomes]
rs74095721	1.00[AMR][1000 genomes]
rs74095730	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095743	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095819	1.00[AMR][1000 genomes]
rs74098033	1.00[AMR][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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62684000-62716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:62686200-62720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:62686400-62736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:62687200-62718200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:62687400-62720600	Weak transcription	Right Ventricle	heart
6	chr12:62689400-62716000	Weak transcription	Colonic Mucosa	Colon
7	chr12:62689600-62717400	Weak transcription	Brain Angular Gyrus	brain
8	chr12:62691200-62716400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:62691200-62736400	Weak transcription	Esophagus	oesophagus
10	chr12:62691200-62736600	Weak transcription	Lung	lung
11	chr12:62698400-62717600	Weak transcription	Brain Germinal Matrix	brain
12	chr12:62698400-62741800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:62698600-62716400	Weak transcription	HepG2	liver
14	chr12:62698600-62720800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:62698600-62725800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:62698600-62745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:62698800-62728600	Weak transcription	Fetal Heart	heart
18	chr12:62699800-62736400	Weak transcription	Aorta	Aorta
19	chr12:62700000-62719000	Weak transcription	Fetal Brain Female	brain
20	chr12:62700000-62726600	Weak transcription	HSMMtube	muscle
21	chr12:62700000-62736400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:62700000-62736400	Weak transcription	Fetal Stomach	stomach
23	chr12:62700000-62737000	Weak transcription	NHLF	lung
24	chr12:62700000-62757000	Weak transcription	HUVEC	blood vessel
25	chr12:62700200-62716000	Weak transcription	Osteobl	bone
26	chr12:62700200-62716400	Weak transcription	Brain Substantia Nigra	brain
27	chr12:62700200-62717800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:62700600-62716000	Weak transcription	HMEC	breast
29	chr12:62701600-62715800	Weak transcription	Thymus	Thymus
30	chr12:62701600-62717200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:62701600-62730800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:62701600-62738600	Weak transcription	Fetal Brain Male	brain
33	chr12:62701600-62742000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:62701600-62769200	Weak transcription	NHEK	skin
35	chr12:62701800-62717200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:62702400-62715800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:62707400-62717800	Strong transcription	Dnd41	blood
38	chr12:62707600-62717800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:62710000-62744400	Weak transcription	Pancreas	Pancrea
40	chr12:62711000-62718000	Strong transcription	Fetal Thymus	thymus
41	chr12:62711000-62720400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:62711200-62717400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:62711200-62717600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:62711800-62717200	Strong transcription	Liver	Liver
45	chr12:62711800-62717600	Strong transcription	Primary T cells from cord blood	blood
46	chr12:62711800-62717600	Strong transcription	Fetal Intestine Large	intestine
47	chr12:62712200-62755400	Weak transcription	Small Intestine	intestine
48	chr12:62712600-62716400	Weak transcription	Hela-S3	cervix
49	chr12:62713000-62732400	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:62713200-62715800	Weak transcription	Left Ventricle	heart

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