Variant report

Variant	rs6987741
Chromosome Location	chr8:96127252-96127253
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96070270..96072434-chr8:96124315..96127287,2	MCF-7	breast:
2	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
3	chr8:96125718..96127342-chr8:96131199..96133073,2	K562	blood:
4	chr8:96037608..96039540-chr8:96126841..96128401,2	K562	blood:
5	chr8:96124301..96127333-chr8:96280927..96283907,4	MCF-7	breast:
6	chr8:96037496..96040138-chr8:96124938..96127918,2	MCF-7	breast:
7	chr8:96119972..96121573-chr8:96125968..96128452,2	MCF-7	breast:
8	chr8:96125724..96129617-chr8:96136220..96139079,3	MCF-7	breast:
9	chr8:96120310..96131373-chr8:96143717..96153210,36	MCF-7	breast:
10	chr8:96120694..96123843-chr8:96123971..96127404,4	K562	blood:
11	chr8:96125842..96128566-chr8:96131199..96132912,2	K562	blood:
12	chr8:96107905..96110477-chr8:96127013..96129331,2	K562	blood:
13	chr8:96084193..96086057-chr8:96125897..96127931,2	MCF-7	breast:
14	chr8:96096428..96097966-chr8:96125843..96128409,2	K562	blood:
15	chr8:96108303..96116345-chr8:96121938..96127499,21	MCF-7	breast:
16	chr8:96123944..96127259-chr8:96279938..96283596,4	MCF-7	breast:
17	chr8:96126608..96129531-chr8:96144702..96147326,2	K562	blood:
18	chr8:96122201..96128454-chr8:96143807..96149954,24	MCF-7	breast:
19	chr8:96125644..96128567-chr8:96136437..96138387,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253773	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000156172	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10102994	0.93[EUR][1000 genomes]
rs10808672	0.95[EUR][1000 genomes]
rs11781181	0.96[EUR][1000 genomes]
rs1466169	0.95[EUR][1000 genomes]
rs1561714	0.96[EUR][1000 genomes]
rs1561715	0.96[EUR][1000 genomes]
rs172469	0.96[EUR][1000 genomes]
rs1975425	0.96[EUR][1000 genomes]
rs2044034	0.96[EUR][1000 genomes]
rs2583365	0.96[EUR][1000 genomes]
rs2599726	0.96[EUR][1000 genomes]
rs4392868	0.96[EUR][1000 genomes]
rs4735344	0.95[EUR][1000 genomes]
rs4735345	0.87[EUR][1000 genomes]
rs4735347	0.85[EUR][1000 genomes]
rs4735350	0.96[EUR][1000 genomes]
rs56617377	0.95[EUR][1000 genomes]
rs6983365	0.96[EUR][1000 genomes]
rs7000568	0.95[EUR][1000 genomes]
rs7000734	0.96[EUR][1000 genomes]
rs7002233	0.96[EUR][1000 genomes]
rs732280	0.95[EUR][1000 genomes]
rs7822998	0.96[EUR][1000 genomes]
rs7836804	0.94[EUR][1000 genomes]
rs7845016	0.96[EUR][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	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	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96113800-96127800	Weak transcription	Right Ventricle	heart
2	chr8:96121800-96127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:96121800-96128200	Enhancers	Stomach Mucosa	stomach
4	chr8:96122400-96128000	Enhancers	HMEC	breast
5	chr8:96122400-96128200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:96122400-96128400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:96123200-96128000	Enhancers	Stomach Smooth Muscle	stomach
8	chr8:96123600-96127400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:96124000-96127800	Weak transcription	Psoas Muscle	Psoas
10	chr8:96124200-96127800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:96124200-96130800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:96124600-96127800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:96124600-96129000	Enhancers	Fetal Muscle Leg	muscle
14	chr8:96125000-96127400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:96125000-96128200	Enhancers	NHLF	lung
16	chr8:96125000-96129000	Weak transcription	Adipose Nuclei	Adipose
17	chr8:96125200-96127800	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:96125400-96127400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:96125400-96127400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:96125400-96127600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:96125600-96127400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:96125600-96127400	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:96125800-96127600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:96125800-96127800	Enhancers	K562	blood
25	chr8:96126000-96127600	Weak transcription	Placenta	Placenta
26	chr8:96126000-96127800	Weak transcription	Fetal Thymus	thymus
27	chr8:96126000-96128000	Enhancers	A549	lung
28	chr8:96126000-96129200	Weak transcription	Spleen	Spleen
29	chr8:96126000-96136200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:96126200-96129200	Weak transcription	Right Atrium	heart
31	chr8:96126400-96127600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:96126400-96127800	Enhancers	Primary B cells from peripheral blood	blood
33	chr8:96126400-96127800	Enhancers	NHDF-Ad	bronchial
34	chr8:96126400-96128000	Enhancers	NH-A	brain
35	chr8:96126400-96128200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:96126400-96128200	Flanking Active TSS	GM12878-XiMat	blood
37	chr8:96126400-96128200	Enhancers	Osteobl	bone
38	chr8:96126600-96127400	Weak transcription	Small Intestine	intestine
39	chr8:96126600-96127600	Weak transcription	Esophagus	oesophagus
40	chr8:96126600-96128000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:96126600-96128000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:96126600-96128000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:96126600-96128000	Enhancers	Fetal Heart	heart
44	chr8:96126600-96133800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:96126800-96127400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:96126800-96127800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:96126800-96127800	Weak transcription	Colonic Mucosa	Colon
48	chr8:96126800-96127800	Weak transcription	Left Ventricle	heart
49	chr8:96126800-96127800	Weak transcription	Pancreas	Pancrea
50	chr8:96126800-96127800	Weak transcription	Rectal Mucosa Donor 29	rectum

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