Variant report

Variant	rs7001297
Chromosome Location	chr8:126607202-126607203
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126589816..126592471-chr8:126605971..126608086,2	MCF-7	breast:
2	chr11:2133266..2133781-chr8:126607043..126607813,2	HCT-116	colon:
3	chr8:126551415..126553791-chr8:126604012..126607735,3	MCF-7	breast:
4	chr8:126440732..126445779-chr8:126600349..126612045,20	MCF-7	breast:
5	chr8:126584493..126586027-chr8:126604796..126607336,2	MCF-7	breast:
6	chr8:126606627..126608562-chr8:126611107..126612785,3	MCF-7	breast:
7	chr8:126585008..126593535-chr8:126599853..126611131,18	MCF-7	breast:
8	chr8:126601013..126605207-chr8:126607092..126609721,3	MCF-7	breast:
9	chr8:126605898..126607935-chr8:126618594..126621504,4	MCF-7	breast:
10	chr8:126606536..126608218-chr8:126626974..126628718,2	MCF-7	breast:
11	chr8:126440111..126444206-chr8:126606253..126610724,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1031496	0.81[AMR][1000 genomes]
rs4871620	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871622	0.82[ASN][1000 genomes]
rs6470367	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7002040	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs897159	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015513	chr8:126602536-126618074	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126602200-126608600	Enhancers	Placenta	Placenta
2	chr8:126602400-126607400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:126602800-126607400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:126604000-126608800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr8:126605400-126608400	Enhancers	Fetal Intestine Large	intestine
6	chr8:126605400-126608400	Enhancers	Fetal Intestine Small	intestine
7	chr8:126605600-126607800	Enhancers	Hela-S3	cervix
8	chr8:126605600-126608800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr8:126605800-126608000	Weak transcription	HSMMtube	muscle
10	chr8:126606000-126608200	Enhancers	Stomach Mucosa	stomach
11	chr8:126606200-126607800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:126606200-126608200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:126606600-126608400	Enhancers	Colonic Mucosa	Colon
14	chr8:126606600-126608600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:126606600-126608600	Enhancers	Small Intestine	intestine
16	chr8:126606600-126613800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:126606800-126607600	Weak transcription	Right Ventricle	heart
18	chr8:126606800-126607800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:126606800-126607800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:126606800-126607800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:126606800-126607800	Weak transcription	Gastric	stomach
22	chr8:126606800-126607800	Weak transcription	Psoas Muscle	Psoas
23	chr8:126606800-126608000	Weak transcription	Lung	lung
24	chr8:126606800-126608000	Weak transcription	Right Atrium	heart
25	chr8:126606800-126609000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:126606800-126609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:126606800-126610400	Weak transcription	NHEK	skin
28	chr8:126606800-126610800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:126606800-126612800	Weak transcription	Spleen	Spleen
30	chr8:126606800-126613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:126606800-126614800	Weak transcription	Osteobl	bone
32	chr8:126607000-126607400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:126607000-126608000	Weak transcription	Esophagus	oesophagus
34	chr8:126607000-126608200	Enhancers	Left Ventricle	heart
35	chr8:126607200-126607600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:126607200-126607600	Weak transcription	A549	lung
37	chr8:126607200-126607800	Weak transcription	Pancreas	Pancrea

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