Variant report

Variant	rs71518693
Chromosome Location	chr8:127851974-127851975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:127850550..127853245-chr8:127857411..127860204,2	K562	blood:
2	chr8:127849961..127854048-chr8:127854713..127860204,4	K562	blood:
3	chr8:127844604..127847451-chr8:127850237..127852011,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253438	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13256541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13263103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13263564	0.91[AFR][1000 genomes]
rs34554193	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34619157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35126215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35507366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35592235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35998325	1.00[AFR][1000 genomes]
rs71518692	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7840654	1.00[AMR][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	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127846600-127858200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:127846800-127852200	Weak transcription	Fetal Heart	heart
3	chr8:127846800-127854000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:127846800-127857200	Weak transcription	Fetal Kidney	kidney
5	chr8:127847000-127854400	Weak transcription	Placenta	Placenta
6	chr8:127847600-127857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:127847600-127860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:127848000-127852600	Weak transcription	NHLF	lung
9	chr8:127848200-127852600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:127849600-127856600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:127849800-127853200	Enhancers	NHDF-Ad	bronchial
12	chr8:127850000-127853000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:127850600-127852600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:127850600-127853600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:127850600-127856000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:127850800-127853400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:127850800-127853600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:127851000-127852000	Enhancers	Adipose Nuclei	Adipose
19	chr8:127851000-127853000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:127851200-127852200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:127851200-127852600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:127851400-127852400	Enhancers	HMEC	breast
23	chr8:127851400-127852600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:127851400-127852800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:127851400-127853200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:127851400-127853200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:127851600-127852400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr8:127851600-127852600	Enhancers	Stomach Mucosa	stomach
29	chr8:127851600-127854400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:127851800-127852600	Enhancers	Gastric	stomach
31	chr8:127851800-127853000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:127851800-127853000	Enhancers	NHEK	skin

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