Variant report

Variant	rs6712576
Chromosome Location	chr2:86245292-86245293
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	chr2:86243376..86246282-chr2:86255772..86258201,2	K562	blood:
2	chr2:86240930..86243180-chr2:86244397..86245985,2	K562	blood:

Variant related genes	Relation type
ENSG00000068654	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2278086	0.96[AFR][1000 genomes]
rs2278537	1.00[AFR][1000 genomes]
rs34302587	0.93[AFR][1000 genomes]
rs35093541	0.96[AFR][1000 genomes]
rs36051710	0.96[AFR][1000 genomes]
rs3770086	1.00[AFR][1000 genomes]
rs3770091	1.00[AFR][1000 genomes]
rs56673339	1.00[AFR][1000 genomes]
rs57906735	1.00[AFR][1000 genomes]
rs58403969	1.00[AFR][1000 genomes]
rs58614836	0.89[AFR][1000 genomes]
rs59947468	0.90[AFR][1000 genomes]
rs60719866	0.96[AFR][1000 genomes]
rs60887312	0.83[AFR][1000 genomes]
rs61185790	1.00[AFR][1000 genomes]
rs6547656	1.00[AFR][1000 genomes]
rs6547657	1.00[AFR][1000 genomes]
rs6704777	1.00[AFR][1000 genomes]
rs6708146	1.00[AFR][1000 genomes]
rs6712535	1.00[AFR][1000 genomes]
rs6724612	0.93[AFR][1000 genomes]
rs6737211	1.00[AFR][1000 genomes]
rs6741815	1.00[AFR][1000 genomes]
rs6741832	1.00[AFR][1000 genomes]
rs6755224	1.00[AFR][1000 genomes]
rs6755246	0.96[AFR][1000 genomes]
rs7557349	1.00[AFR][1000 genomes]
rs7569577	1.00[AFR][1000 genomes]
rs7572206	1.00[AFR][1000 genomes]
rs7582484	1.00[AFR][1000 genomes]
rs7599656	1.00[AFR][1000 genomes]
rs7606062	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86242200-86246200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:86242200-86251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:86242600-86245800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:86242600-86246800	Enhancers	Fetal Thymus	thymus
5	chr2:86243600-86246400	Enhancers	Thymus	Thymus
6	chr2:86243600-86246600	Enhancers	GM12878-XiMat	blood
7	chr2:86243800-86245400	Enhancers	Stomach Mucosa	stomach
8	chr2:86243800-86245600	Enhancers	Lung	lung
9	chr2:86243800-86245800	Enhancers	Adipose Nuclei	Adipose
10	chr2:86243800-86246200	Enhancers	Fetal Muscle Leg	muscle
11	chr2:86243800-86246200	Enhancers	Psoas Muscle	Psoas
12	chr2:86244000-86245600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:86244000-86246000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:86244000-86246400	Enhancers	Pancreas	Pancrea
15	chr2:86244000-86251800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:86244200-86245400	Enhancers	Hela-S3	cervix
17	chr2:86244200-86246000	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:86244200-86246200	Enhancers	Brain Hippocampus Middle	brain
19	chr2:86244200-86248200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:86244200-86248600	Weak transcription	Right Atrium	heart
21	chr2:86244200-86257000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:86244400-86246200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:86244400-86246400	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:86244400-86247800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:86244400-86252400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:86244400-86252600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:86244400-86252800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:86244400-86253000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:86244400-86255000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:86244600-86246000	Enhancers	K562	blood
31	chr2:86244600-86246400	Enhancers	Primary B cells from cord blood	blood
32	chr2:86244600-86248000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:86244600-86251000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:86244600-86251200	Weak transcription	Primary T cells from cord blood	blood
35	chr2:86244600-86251400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:86244600-86251400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:86244600-86251800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:86244600-86252400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:86244600-86252600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:86244600-86255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:86244600-86257200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:86244800-86245400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr2:86244800-86245400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:86244800-86245400	Enhancers	A549	lung
45	chr2:86244800-86245600	Enhancers	Left Ventricle	heart
46	chr2:86244800-86245600	Enhancers	Right Ventricle	heart
47	chr2:86244800-86245600	Enhancers	Spleen	Spleen
48	chr2:86244800-86245600	Enhancers	HMEC	breast
49	chr2:86244800-86245600	Enhancers	HUVEC	blood vessel
50	chr2:86244800-86246000	Enhancers	Brain Angular Gyrus	brain

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