Variant report

Variant	rs10102994
Chromosome Location	chr8:96126263-96126264
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96070270..96072434-chr8:96124315..96127287,2	MCF-7	breast:
2	chr8:96107137..96110639-chr8:96122699..96126438,5	MCF-7	breast:
3	chr8:95958816..95960482-chr8:96125143..96126685,2	MCF-7	breast:
4	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
5	chr8:96125718..96127342-chr8:96131199..96133073,2	K562	blood:
6	chr8:96097556..96101396-chr8:96123203..96126777,5	MCF-7	breast:
7	chr8:96124301..96127333-chr8:96280927..96283907,4	MCF-7	breast:
8	chr8:96037496..96040138-chr8:96124938..96127918,2	MCF-7	breast:
9	chr8:96119972..96121573-chr8:96125968..96128452,2	MCF-7	breast:
10	chr8:96125724..96129617-chr8:96136220..96139079,3	MCF-7	breast:
11	chr8:96120310..96131373-chr8:96143717..96153210,36	MCF-7	breast:
12	chr8:96120694..96123843-chr8:96123971..96127404,4	K562	blood:
13	chr8:96121521..96123577-chr8:96125301..96126849,2	K562	blood:
14	chr8:96125842..96128566-chr8:96131199..96132912,2	K562	blood:
15	chr8:96114692..96118585-chr8:96123504..96126472,3	K562	blood:
16	chr8:96084193..96086057-chr8:96125897..96127931,2	MCF-7	breast:
17	chr8:96124960..96126763-chr8:96260721..96264387,3	MCF-7	breast:
18	chr8:96096428..96097966-chr8:96125843..96128409,2	K562	blood:
19	chr8:96108303..96116345-chr8:96121938..96127499,21	MCF-7	breast:
20	chr8:96123944..96127259-chr8:96279938..96283596,4	MCF-7	breast:
21	chr8:96075699..96088634-chr8:96121923..96127068,15	MCF-7	breast:
22	chr8:96122201..96128454-chr8:96143807..96149954,24	MCF-7	breast:
23	chr8:96123802..96126736-chr8:96258433..96260604,2	MCF-7	breast:
24	chr8:96097290..96101998-chr8:96121325..96126808,13	MCF-7	breast:
25	chr8:96105175..96107392-chr8:96125066..96126670,2	MCF-7	breast:
26	chr8:96123602..96127080-chr8:96146091..96148801,3	K562	blood:
27	chr8:96125644..96128567-chr8:96136437..96138387,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253773	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000156172	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10808672	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11781181	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1466169	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1561714	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1561715	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs172469	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1975425	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2044034	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2583365	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2599726	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs297557	0.84[AMR][1000 genomes]
rs4392868	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4735344	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4735345	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4735347	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4735350	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56617377	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6983365	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6987741	0.93[EUR][1000 genomes]
rs7000568	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7000734	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7002233	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs732280	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7822998	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7836804	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7845016	1.00[AMR][1000 genomes];0.97[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:64 , 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	chr8:96122200-96126600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:96122400-96126600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr8:96122400-96126800	Enhancers	Pancreas	Pancrea
7	chr8:96122400-96128000	Enhancers	HMEC	breast
8	chr8:96122400-96128200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:96122400-96128400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:96122600-96126400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:96123000-96126600	Enhancers	Small Intestine	intestine
12	chr8:96123200-96126600	Enhancers	Esophagus	oesophagus
13	chr8:96123200-96126600	Enhancers	Fetal Intestine Small	intestine
14	chr8:96123200-96128000	Enhancers	Stomach Smooth Muscle	stomach
15	chr8:96123600-96127400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:96123800-96126400	Weak transcription	NH-A	brain
17	chr8:96123800-96126400	Enhancers	NHEK	skin
18	chr8:96124000-96126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:96124000-96126600	Weak transcription	Fetal Heart	heart
20	chr8:96124000-96127800	Weak transcription	Psoas Muscle	Psoas
21	chr8:96124200-96127200	Enhancers	Hela-S3	cervix
22	chr8:96124200-96127800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:96124200-96130800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:96124400-96126400	Enhancers	GM12878-XiMat	blood
25	chr8:96124400-96126800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:96124400-96127000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:96124600-96126800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:96124600-96127800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:96124600-96129000	Enhancers	Fetal Muscle Leg	muscle
30	chr8:96124800-96126800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:96125000-96126600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr8:96125000-96126600	Enhancers	Fetal Stomach	stomach
33	chr8:96125000-96126800	Enhancers	Left Ventricle	heart
34	chr8:96125000-96127200	Enhancers	Fetal Muscle Trunk	muscle
35	chr8:96125000-96127400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:96125000-96128200	Enhancers	NHLF	lung
37	chr8:96125000-96129000	Weak transcription	Adipose Nuclei	Adipose
38	chr8:96125200-96126600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:96125200-96126600	Enhancers	Gastric	stomach
40	chr8:96125200-96127800	Enhancers	Duodenum Mucosa	Duodenum
41	chr8:96125400-96126400	Weak transcription	Brain Anterior Caudate	brain
42	chr8:96125400-96126400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:96125400-96126400	Weak transcription	HUVEC	blood vessel
44	chr8:96125400-96126400	Weak transcription	Osteobl	bone
45	chr8:96125400-96126600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:96125400-96127400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:96125400-96127400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:96125400-96127600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:96125600-96127400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:96125600-96127400	Weak transcription	Colon Smooth Muscle	Colon

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