Variant report

Variant	rs7015483
Chromosome Location	chr8:126478561-126478562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr8:126478541-126479626	ECC-1	luminal epithelium:	n/a	n/a
2	SPI1	chr8:126478540-126479812	HL-60	blood:	n/a	chr8:126478676-126478683
3	EP300	chr8:126477659-126479594	ECC-1	luminal epithelium:	n/a	chr8:126479568-126479577
4	NFIC	chr8:126478553-126479492	ECC-1	luminal epithelium:	n/a	n/a
5	TCF12	chr8:126477683-126479561	ECC-1	luminal epithelium:	n/a	chr8:126478959-126478967 chr8:126479277-126479286
6	NFIC	chr8:126478498-126479667	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr8:126478541-126479499	ECC-1	luminal epithelium:	n/a	chr8:126478959-126478967 chr8:126479277-126479286

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126476379..126479143-chr8:126667265..126669380,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253111	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10088674	1.00[EUR][1000 genomes]
rs10093674	1.00[EUR][1000 genomes]
rs10097356	1.00[EUR][1000 genomes]
rs10104564	1.00[EUR][1000 genomes]
rs10105848	1.00[EUR][1000 genomes]
rs10106819	1.00[EUR][1000 genomes]
rs10106935	1.00[EUR][1000 genomes]
rs10106950	1.00[EUR][1000 genomes]
rs10107935	1.00[EUR][1000 genomes]
rs10108634	1.00[EUR][1000 genomes]
rs10109000	1.00[EUR][1000 genomes]
rs10111309	1.00[EUR][1000 genomes]
rs10481079	1.00[EUR][1000 genomes]
rs10481153	1.00[EUR][1000 genomes]
rs10481154	1.00[EUR][1000 genomes]
rs11985468	1.00[EUR][1000 genomes]
rs11988647	1.00[EUR][1000 genomes]
rs11990560	1.00[EUR][1000 genomes]
rs13439074	1.00[EUR][1000 genomes]
rs28374689	1.00[EUR][1000 genomes]
rs28412398	1.00[EUR][1000 genomes]
rs28421051	1.00[EUR][1000 genomes]
rs28481333	1.00[EUR][1000 genomes]
rs28609644	1.00[EUR][1000 genomes]
rs28617180	1.00[EUR][1000 genomes]
rs28629877	1.00[EUR][1000 genomes]
rs28676821	1.00[EUR][1000 genomes]
rs58585963	1.00[EUR][1000 genomes]
rs58966508	1.00[EUR][1000 genomes]
rs6985650	1.00[EUR][1000 genomes]
rs71516796	1.00[EUR][1000 genomes]
rs73704566	1.00[EUR][1000 genomes]
rs73704568	1.00[EUR][1000 genomes]
rs73704912	1.00[EUR][1000 genomes]
rs73704916	1.00[EUR][1000 genomes]
rs73704922	1.00[EUR][1000 genomes]
rs7817929	1.00[EUR][1000 genomes]
rs7826327	1.00[EUR][1000 genomes]
rs7826972	1.00[EUR][1000 genomes]
rs7844941	1.00[EUR][1000 genomes]
rs7845326	1.00[EUR][1000 genomes]
rs9297715	1.00[EUR][1000 genomes]

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	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126472400-126479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:126475400-126479200	Weak transcription	A549	lung
3	chr8:126475600-126478800	Weak transcription	K562	blood
4	chr8:126475800-126479600	Enhancers	Placenta	Placenta
5	chr8:126476400-126478800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:126476400-126479000	Weak transcription	Right Ventricle	heart
7	chr8:126476600-126478800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:126476600-126478800	Enhancers	Hela-S3	cervix
9	chr8:126476600-126479000	Weak transcription	Liver	Liver
10	chr8:126476600-126483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:126476800-126479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:126476800-126479200	Weak transcription	NHEK	skin
13	chr8:126477000-126479800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:126477200-126479800	Enhancers	HUVEC	blood vessel
15	chr8:126477400-126479400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:126477400-126479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:126477400-126485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:126477600-126478800	Enhancers	Fetal Kidney	kidney
19	chr8:126477600-126479400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:126477600-126479400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:126477600-126479400	Enhancers	Adipose Nuclei	Adipose
22	chr8:126477600-126479400	Enhancers	Fetal Stomach	stomach
23	chr8:126477600-126479400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr8:126477600-126479400	Enhancers	Spleen	Spleen
25	chr8:126477600-126479600	Enhancers	Fetal Muscle Leg	muscle
26	chr8:126477600-126479600	Enhancers	NH-A	brain
27	chr8:126477600-126479800	Enhancers	Fetal Lung	lung
28	chr8:126477600-126480000	Enhancers	Fetal Muscle Trunk	muscle
29	chr8:126477800-126479200	Enhancers	Brain Hippocampus Middle	brain
30	chr8:126477800-126479400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:126477800-126479400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:126477800-126479400	Enhancers	Left Ventricle	heart
33	chr8:126477800-126479400	Enhancers	Lung	lung
34	chr8:126477800-126479400	Enhancers	Ovary	ovary
35	chr8:126477800-126479400	Enhancers	Right Atrium	heart
36	chr8:126477800-126479600	Enhancers	Fetal Heart	heart
37	chr8:126477800-126479600	Enhancers	HSMM	muscle
38	chr8:126477800-126479800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:126477800-126479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:126477800-126480000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr8:126478000-126478600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:126478000-126478600	Weak transcription	Fetal Brain Female	brain
43	chr8:126478000-126479200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:126478000-126479200	Enhancers	Fetal Thymus	thymus
45	chr8:126478000-126479400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:126478000-126479400	Enhancers	Gastric	stomach
47	chr8:126478000-126479400	Enhancers	Stomach Mucosa	stomach
48	chr8:126478000-126479600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:126478000-126479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:126478000-126479600	Enhancers	Fetal Intestine Small	intestine

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