Variant report

Variant	rs4870857
Chromosome Location	chr8:124592374-124592375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124576148..124579059-chr8:124591482..124593021,2	MCF-7	breast:
2	chr8:124589966..124594613-chr8:124606326..124610133,5	MCF-7	breast:
3	chr8:124591963..124593742-chr8:124625579..124627436,2	MCF-7	breast:
4	chr8:124591472..124593907-chr8:124596529..124599826,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253286	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10089696	0.96[ASN][1000 genomes]
rs10091164	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10102942	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11776999	0.95[ASN][1000 genomes]
rs12547165	0.96[ASN][1000 genomes]
rs12547541	0.95[ASN][1000 genomes]
rs13250678	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs13251106	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs13252512	0.86[ASN][1000 genomes]
rs13261294	0.88[ASN][1000 genomes]
rs13273000	0.86[ASN][1000 genomes]
rs4515533	0.98[ASN][1000 genomes]
rs4870858	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6987814	0.89[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4870857	TMEM65	cis	occipital cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124575600-124598600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:124588400-124592800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:124589600-124593600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:124590000-124592400	Weak transcription	Fetal Intestine Large	intestine
5	chr8:124590800-124593000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:124590800-124597000	Weak transcription	HSMMtube	muscle
7	chr8:124591000-124594600	Enhancers	Fetal Intestine Small	intestine
8	chr8:124591600-124592400	Enhancers	Pancreas	Pancrea
9	chr8:124591600-124593000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:124591600-124593000	Enhancers	NHDF-Ad	bronchial
11	chr8:124591600-124593800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:124591600-124594000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:124591600-124594000	Enhancers	Fetal Heart	heart
14	chr8:124591600-124594200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:124591600-124594400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:124591800-124592800	Enhancers	Hela-S3	cervix
17	chr8:124591800-124593400	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:124591800-124593800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:124591800-124594200	Enhancers	Osteobl	bone
20	chr8:124592000-124592600	Enhancers	HSMM	muscle
21	chr8:124592000-124593000	Enhancers	HMEC	breast
22	chr8:124592000-124593200	Weak transcription	Psoas Muscle	Psoas
23	chr8:124592000-124593200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:124592200-124592400	Enhancers	HUVEC	blood vessel
25	chr8:124592200-124592600	Enhancers	NHEK	skin
26	chr8:124592200-124592800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:124592200-124592800	Enhancers	Placenta	Placenta
28	chr8:124592200-124593000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:124592200-124593400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:124592200-124593400	Weak transcription	A549	lung
31	chr8:124592200-124594000	Enhancers	Duodenum Mucosa	Duodenum
32	chr8:124592200-124594000	Enhancers	HepG2	liver

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