Variant report

Variant	rs7606062
Chromosome Location	chr2:86250065-86250066
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	chr2:86245953..86248682-chr2:86248829..86250857,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR1A-3	chr2:86248013-86250635	NONHSAT072082
2	lnc-POLR1A-3	chr2:86247339-86250991	NONHSAT072081

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2278086	0.90[AFR][1000 genomes]
rs2278537	0.93[AFR][1000 genomes]
rs34302587	0.86[AFR][1000 genomes]
rs35093541	0.90[AFR][1000 genomes]
rs36051710	0.90[AFR][1000 genomes]
rs3770086	0.93[AFR][1000 genomes]
rs3770091	0.93[AFR][1000 genomes]
rs56673339	0.93[AFR][1000 genomes]
rs57906735	0.93[AFR][1000 genomes]
rs58403969	0.93[AFR][1000 genomes]
rs58614836	0.83[AFR][1000 genomes]
rs59947468	0.83[AFR][1000 genomes]
rs60719866	0.90[AFR][1000 genomes]
rs61185790	0.93[AFR][1000 genomes]
rs6547656	0.93[AFR][1000 genomes]
rs6547657	0.93[AFR][1000 genomes]
rs6704777	0.93[AFR][1000 genomes]
rs6708146	0.93[AFR][1000 genomes]
rs6712535	0.93[AFR][1000 genomes]
rs6712576	0.93[AFR][1000 genomes]
rs6724612	0.86[AFR][1000 genomes]
rs6737211	0.93[AFR][1000 genomes]
rs6741815	0.93[AFR][1000 genomes]
rs6741832	0.93[AFR][1000 genomes]
rs6755224	0.93[AFR][1000 genomes]
rs6755246	0.90[AFR][1000 genomes]
rs7557349	0.93[AFR][1000 genomes]
rs7569577	0.93[AFR][1000 genomes]
rs7572206	0.93[AFR][1000 genomes]
rs7582484	0.93[AFR][1000 genomes]
rs7599656	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:86242200-86251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:86244000-86251800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:86244200-86257000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:86244400-86252400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:86244400-86252600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:86244400-86252800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:86244400-86253000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:86244400-86255000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:86244600-86251000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:86244600-86251200	Weak transcription	Primary T cells from cord blood	blood
11	chr2:86244600-86251400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:86244600-86251400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:86244600-86251800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:86244600-86252400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:86244600-86252600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:86244600-86255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:86244600-86257200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:86244800-86253600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:86245000-86251400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:86245000-86252400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:86245000-86252600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:86245400-86251000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:86245400-86251200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:86245400-86251200	Weak transcription	A549	lung
25	chr2:86245400-86252400	Weak transcription	Esophagus	oesophagus
26	chr2:86245400-86252600	Weak transcription	Hela-S3	cervix
27	chr2:86245400-86254000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:86245400-86254600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:86245400-86257200	Weak transcription	Stomach Mucosa	stomach
30	chr2:86245400-86257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:86245400-86263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:86245600-86251600	Weak transcription	HMEC	breast
33	chr2:86245600-86252400	Weak transcription	NHEK	skin
34	chr2:86245600-86253600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:86245800-86251200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:86245800-86251400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:86246000-86251400	Weak transcription	K562	blood
38	chr2:86246200-86250800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:86246200-86252600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:86246200-86252600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:86246400-86252600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:86247000-86251200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:86247400-86251000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:86247400-86252600	Weak transcription	Fetal Brain Male	brain
45	chr2:86248000-86252400	Weak transcription	Colonic Mucosa	Colon
46	chr2:86248200-86251200	Enhancers	Fetal Thymus	thymus
47	chr2:86248400-86251200	Weak transcription	NH-A	brain
48	chr2:86248400-86252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:86248400-86252600	Weak transcription	Fetal Intestine Large	intestine
50	chr2:86248400-86253000	Weak transcription	Colon Smooth Muscle	Colon

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