Variant report

Variant	rs2002243
Chromosome Location	chr8:96081940-96081941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96081390..96083933-chr8:96088865..96090424,2	K562	blood:
2	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
3	chr17:58537718..58539624-chr8:96080020..96082836,2	MCF-7	breast:
4	chr8:96072280..96082057-chr8:96143406..96150431,26	MCF-7	breast:
5	chr8:96079160..96082761-chr8:96145231..96147675,3	K562	blood:
6	chr8:96079846..96082376-chr8:96152010..96153617,2	MCF-7	breast:
7	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
8	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2599707	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2678831	0.86[EUR][1000 genomes]
rs2923815	0.88[EUR][1000 genomes]
rs877350	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	esv1808302	chr8:96079879-96085479	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:96062000-96083800	Weak transcription	Fetal Brain Male	brain
3	chr8:96068800-96082200	Weak transcription	Fetal Brain Female	brain
4	chr8:96071200-96084600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:96071200-96085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:96071600-96083000	Weak transcription	Primary B cells from cord blood	blood
7	chr8:96071600-96084200	Weak transcription	GM12878-XiMat	blood
8	chr8:96071800-96083200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr8:96071800-96084800	Weak transcription	Thymus	Thymus
10	chr8:96072400-96085000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:96075200-96084800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:96077600-96084400	Weak transcription	Gastric	stomach
13	chr8:96078600-96082000	Weak transcription	Aorta	Aorta
14	chr8:96079800-96083200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:96080000-96084800	Weak transcription	Spleen	Spleen
16	chr8:96080000-96085200	Weak transcription	Lung	lung
17	chr8:96080200-96082000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:96080200-96083600	Weak transcription	Liver	Liver
19	chr8:96080200-96084400	Weak transcription	Fetal Thymus	thymus
20	chr8:96080200-96085000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:96080200-96085000	Weak transcription	Right Ventricle	heart
22	chr8:96080200-96085200	Weak transcription	Pancreas	Pancrea
23	chr8:96080200-96085200	Weak transcription	Right Atrium	heart
24	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:96080600-96083200	Enhancers	K562	blood
26	chr8:96081000-96082400	Weak transcription	Fetal Intestine Large	intestine
27	chr8:96081000-96083600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:96081200-96082200	Weak transcription	Fetal Intestine Small	intestine
29	chr8:96081200-96084600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:96081200-96084800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:96081400-96083000	Weak transcription	Placenta	Placenta
32	chr8:96081400-96083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:96081400-96084800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:96081400-96084800	Weak transcription	Stomach Mucosa	stomach
35	chr8:96081400-96085200	Weak transcription	Brain Anterior Caudate	brain
36	chr8:96081400-96086600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:96081600-96083000	Weak transcription	HepG2	liver
38	chr8:96081600-96084400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:96081600-96085000	Weak transcription	Colonic Mucosa	Colon
40	chr8:96081600-96085200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:96081600-96087800	Weak transcription	A549	lung
42	chr8:96081800-96082200	Weak transcription	HMEC	breast
43	chr8:96081800-96082200	Weak transcription	NHEK	skin
44	chr8:96081800-96083200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:96081800-96084600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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