Variant report

Variant	rs62512652
Chromosome Location	chr8:67584012-67584013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:67583981-67584232	GM12878	blood:	n/a	n/a
2	BCL3	chr8:67583843-67584258	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67578381..67581765-chr8:67581776..67586118,6	MCF-7	breast:
2	chr8:67581921..67584639-chr8:67590488..67593453,2	K562	blood:
3	chr8:67581498..67586014-chr8:67623952..67627332,5	MCF-7	breast:
4	chr8:67582095..67584225-chr8:67624520..67626340,2	MCF-7	breast:
5	chr8:67576102..67584643-chr8:67586059..67596736,15	K562	blood:
6	chr8:67574352..67576539-chr8:67582094..67584392,3	MCF-7	breast:
7	chr8:67582828..67585524-chr8:67585779..67587559,2	K562	blood:

No data

Variant related genes	Relation type
C8orf44	TF binding region
VCPIP1	TF binding region
ENSG00000213865	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000270024	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13255518	1.00[EUR][1000 genomes]
rs62512659	1.00[EUR][1000 genomes]
rs62513061	1.00[EUR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67580200-67601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67580400-67584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:67580400-67584800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:67580400-67605000	Weak transcription	Stomach Mucosa	stomach
5	chr8:67580600-67624400	Weak transcription	Aorta	Aorta
6	chr8:67580600-67624400	Weak transcription	Ovary	ovary
7	chr8:67580800-67589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:67580800-67589200	Weak transcription	Placenta	Placenta
9	chr8:67580800-67589400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:67580800-67589600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:67580800-67589800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:67580800-67591200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:67580800-67594200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:67580800-67594800	Weak transcription	Pancreas	Pancrea
15	chr8:67580800-67602200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:67580800-67603600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:67580800-67604000	Weak transcription	Gastric	stomach
18	chr8:67580800-67609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:67580800-67609200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:67580800-67623600	Weak transcription	Colonic Mucosa	Colon
21	chr8:67581000-67588800	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:67581000-67589200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:67581000-67624600	Weak transcription	Spleen	Spleen
24	chr8:67581200-67584200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr8:67581200-67585000	Enhancers	Adipose Nuclei	Adipose
26	chr8:67581200-67585000	Weak transcription	Fetal Stomach	stomach
27	chr8:67581200-67588200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:67581200-67588600	Weak transcription	Fetal Brain Female	brain
29	chr8:67581200-67588600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:67581200-67588800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:67581200-67589000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:67581200-67589600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:67581200-67589600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:67581200-67590400	Weak transcription	NHLF	lung
35	chr8:67581200-67594800	Weak transcription	Fetal Kidney	kidney
36	chr8:67581200-67601800	Weak transcription	Brain Substantia Nigra	brain
37	chr8:67581200-67601800	Weak transcription	HSMMtube	muscle
38	chr8:67581400-67584600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:67581400-67585400	Weak transcription	Fetal Intestine Large	intestine
40	chr8:67581400-67586200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:67581400-67586600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:67581400-67586600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:67581400-67586600	Weak transcription	Fetal Heart	heart
44	chr8:67581400-67586600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:67581400-67586600	Weak transcription	HSMM	muscle
46	chr8:67581400-67586600	Weak transcription	Osteobl	bone
47	chr8:67581400-67586800	Weak transcription	HUVEC	blood vessel
48	chr8:67581400-67586800	Weak transcription	NHDF-Ad	bronchial
49	chr8:67581400-67587000	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:67581400-67588000	Weak transcription	Primary T cells fromperipheralblood	blood

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