Variant report

Variant	rs6991135
Chromosome Location	chr8:125591590-125591591
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	FOS	chr8:125591363-125591836	MCF10A-Er-Src	breast:	n/a	chr8:125591430-125591438
2	FOS	chr8:125591409-125591844	MCF10A-Er-Src	breast:	n/a	chr8:125591430-125591438
3	STAT3	chr8:125591293-125591921	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr8:125591304-125591741	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr8:125591500-125591728	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr8:125591518-125591846	A549	lung:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
7	STAT3	chr8:125591313-125591702	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr8:125591501-125591781	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr8:125591454-125591826	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr8:125591390-125591663	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr8:125591509-125591876	K562	blood:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
12	EGR1	chr8:125591431-125591666	K562	blood:	n/a	n/a
13	STAT3	chr8:125591307-125591858	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr8:125591458-125591847	NB4	blood:	n/a	n/a
15	FOS	chr8:125591425-125591827	MCF10A-Er-Src	breast:	n/a	chr8:125591430-125591438
16	MAX	chr8:125591485-125591864	NB4	blood:	n/a	n/a
17	MYC	chr8:125591519-125591779	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr8:125591536-125591857	HepG2	liver:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
19	CEBPB	chr8:125591507-125591847	Hela-S3	cervix:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
20	CEBPB	chr8:125591479-125591887	IMR90	lung:	n/a	chr8:125591661-125591672 chr8:125591685-125591696
21	CEBPB	chr8:125591487-125591877	K562	blood:	n/a	chr8:125591661-125591672 chr8:125591685-125591696

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125576007..125577952-chr8:125590257..125591907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272486	TF binding region
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10103765	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10505445	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11779706	0.94[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1988734	0.80[EUR][1000 genomes]
rs3857943	0.80[EUR][1000 genomes]
rs3857944	0.80[EUR][1000 genomes]
rs6470251	0.80[EUR][1000 genomes]
rs6470252	0.80[EUR][1000 genomes]
rs7001375	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7821505	0.91[EUR][1000 genomes]
rs7824951	0.80[EUR][1000 genomes]
rs7828897	0.80[EUR][1000 genomes]
rs7838223	0.94[CEU][hapmap];0.81[YRI][hapmap];0.91[EUR][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	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1025014	chr8:125578314-125600950	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv275001	chr8:125584475-125593594	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566400-125600600	Weak transcription	NHEK	skin
3	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
6	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:125577600-125591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:125578000-125598600	Weak transcription	Gastric	stomach
9	chr8:125578200-125598000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
11	chr8:125581200-125596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
13	chr8:125585000-125598400	Strong transcription	Liver	Liver
14	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:125586000-125593400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:125586400-125596600	Strong transcription	Fetal Intestine Small	intestine
17	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:125586600-125598000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr8:125586800-125598200	Strong transcription	Primary B cells from cord blood	blood
20	chr8:125586800-125598200	Weak transcription	Pancreas	Pancrea
21	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
22	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial
23	chr8:125587000-125597000	Strong transcription	Fetal Brain Female	brain
24	chr8:125587000-125603400	Weak transcription	Stomach Mucosa	stomach
25	chr8:125587200-125595600	Weak transcription	Brain Substantia Nigra	brain
26	chr8:125587200-125605400	Weak transcription	Fetal Lung	lung
27	chr8:125587200-125605800	Weak transcription	Psoas Muscle	Psoas
28	chr8:125588000-125593200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:125588000-125594800	Weak transcription	Fetal Heart	heart
30	chr8:125588200-125592800	Strong transcription	Fetal Muscle Leg	muscle
31	chr8:125588400-125591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:125588400-125592800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:125588600-125596000	Strong transcription	Spleen	Spleen
34	chr8:125588800-125597400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:125588800-125603400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:125589000-125595400	Strong transcription	Brain Germinal Matrix	brain
37	chr8:125589200-125592400	Strong transcription	Fetal Stomach	stomach
38	chr8:125589200-125592800	Strong transcription	Esophagus	oesophagus
39	chr8:125589200-125595400	Strong transcription	Left Ventricle	heart
40	chr8:125589400-125594400	Weak transcription	HSMMtube	muscle
41	chr8:125589600-125597200	Strong transcription	Fetal Intestine Large	intestine
42	chr8:125589800-125592400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:125589800-125592800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:125589800-125593600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:125589800-125597600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:125590000-125591600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:125590000-125592000	Enhancers	Osteobl	bone
48	chr8:125590000-125592400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:125590000-125592600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:125590000-125593200	Strong transcription	Fetal Muscle Trunk	muscle

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