Variant report

Variant	rs6724612
Chromosome Location	chr2:86248209-86248210
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	chr2:86246321..86249614-chr2:86252792..86256934,5	K562	blood:
2	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

Variant related genes	Relation type
ENSG00000068654	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs2278086	0.89[AFR][1000 genomes]
rs2278537	0.93[AFR][1000 genomes]
rs34302587	1.00[AFR][1000 genomes]
rs35093541	0.89[AFR][1000 genomes]
rs36051710	0.89[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	0.96[AFR][1000 genomes]
rs59947468	0.82[AFR][1000 genomes]
rs60719866	0.89[AFR][1000 genomes]
rs60887312	0.89[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]
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	0.89[AFR][1000 genomes]
rs7557349	0.93[AFR][1000 genomes]
rs7569577	0.93[AFR][1000 genomes]
rs7572206	0.93[AFR][1000 genomes]
rs7581458	0.81[AFR][1000 genomes]
rs7582484	0.93[AFR][1000 genomes]
rs7599656	0.93[AFR][1000 genomes]
rs7606062	0.86[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:101 , 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	chr2:86244200-86248600	Weak transcription	Right Atrium	heart
4	chr2:86244200-86257000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:86244400-86252400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:86244400-86252600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:86244400-86252800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:86244400-86253000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:86244400-86255000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:86244600-86251000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:86244600-86251200	Weak transcription	Primary T cells from cord blood	blood
12	chr2:86244600-86251400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:86244600-86251400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:86244600-86251800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:86244600-86252400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:86244600-86252600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:86244600-86255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:86244600-86257200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:86244800-86253600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:86245000-86251400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:86245000-86252400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:86245000-86252600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:86245400-86251000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:86245400-86251200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:86245400-86251200	Weak transcription	A549	lung
26	chr2:86245400-86252400	Weak transcription	Esophagus	oesophagus
27	chr2:86245400-86252600	Weak transcription	Hela-S3	cervix
28	chr2:86245400-86254000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:86245400-86254600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:86245400-86257200	Weak transcription	Stomach Mucosa	stomach
31	chr2:86245400-86257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:86245400-86263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:86245600-86248400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:86245600-86248400	Weak transcription	Spleen	Spleen
35	chr2:86245600-86251600	Weak transcription	HMEC	breast
36	chr2:86245600-86252400	Weak transcription	NHEK	skin
37	chr2:86245600-86253600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:86245800-86251200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:86245800-86251400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:86246000-86251400	Weak transcription	K562	blood
41	chr2:86246200-86250800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:86246200-86252600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:86246200-86252600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:86246400-86249600	Weak transcription	Primary B cells from cord blood	blood
45	chr2:86246400-86249600	Weak transcription	Thymus	Thymus
46	chr2:86246400-86250000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:86246400-86252600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:86246600-86249600	Weak transcription	GM12878-XiMat	blood
49	chr2:86247000-86249200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:86247000-86251200	Weak transcription	H9 Cell Line	embryonic stem cell

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