Variant report

Variant	rs637207
Chromosome Location	chr9:79280630-79280631
allele	A/G
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	CTCF	chr9:79280520-79280670	GM06990	blood:	n/a	n/a
2	SMC3	chr9:79280516-79281461	SK-N-SH	brain:	n/a	n/a
3	MYC	chr9:79280435-79280651	MCF10A-Er-Src	breast:	n/a	chr9:79280549-79280558
4	FOS	chr9:79280518-79280681	MCF10A-Er-Src	breast:	n/a	chr9:79280549-79280559 chr9:79280550-79280559 chr9:79280549-79280559 chr9:79280549-79280559 chr9:79280549-79280559 chr9:79280548-79280560

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79280437..79281078-chr9:79317445..79318438,2	MCF-7	breast:
2	chr9:79280496..79281467-chr9:79318110..79319001,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265488	TF binding region
ENSG00000106772	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10521475	1.00[CEU][hapmap]
rs11144986	1.00[CEU][hapmap]
rs11144987	1.00[CEU][hapmap]
rs11144992	1.00[CEU][hapmap]
rs11144996	1.00[CEU][hapmap]
rs17062768	1.00[CEU][hapmap]
rs17062772	1.00[CEU][hapmap]
rs17062775	1.00[CEU][hapmap]
rs17062778	1.00[CEU][hapmap]
rs17062858	1.00[CEU][hapmap]
rs1854441	1.00[CEU][hapmap]
rs1952460	1.00[CEU][hapmap]
rs2067501	1.00[CEU][hapmap]
rs499746	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs526596	0.85[JPT][hapmap]
rs560763	0.85[ASN][1000 genomes]
rs570222	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs618944	0.84[JPT][hapmap]
rs634063	0.85[EUR][1000 genomes]
rs635856	0.97[ASN][1000 genomes]
rs636207	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs644893	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs680949	0.82[JPT][hapmap]
rs683798	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs7038619	1.00[CEU][hapmap]
rs7039310	0.85[EUR][1000 genomes]
rs7045505	1.00[CEU][hapmap]
rs7859873	1.00[CEU][hapmap]

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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79260000-79282400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:79263600-79282200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:79266400-79306800	Weak transcription	Fetal Stomach	stomach
4	chr9:79266600-79282200	Weak transcription	Brain Anterior Caudate	brain
5	chr9:79269800-79282200	Weak transcription	Brain Substantia Nigra	brain
6	chr9:79270400-79303000	Weak transcription	Colon Smooth Muscle	Colon
7	chr9:79271600-79285200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:79272600-79282000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:79273600-79281200	Weak transcription	Colonic Mucosa	Colon
10	chr9:79273600-79282000	Weak transcription	Osteobl	bone
11	chr9:79273600-79282600	Weak transcription	Fetal Intestine Large	intestine
12	chr9:79274000-79281200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:79274000-79282200	Weak transcription	NHDF-Ad	bronchial
14	chr9:79276800-79281200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr9:79277400-79282000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:79277400-79282200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:79277600-79282200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:79278200-79281600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:79278200-79281800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:79278200-79282000	Weak transcription	K562	blood
21	chr9:79278200-79303400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:79278400-79281200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr9:79278400-79281400	Weak transcription	Right Atrium	heart
24	chr9:79278400-79281600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:79278400-79282200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:79278400-79282200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:79278400-79282200	Weak transcription	Aorta	Aorta
28	chr9:79278400-79282200	Weak transcription	Gastric	stomach
29	chr9:79278400-79282200	Weak transcription	Spleen	Spleen
30	chr9:79278400-79282400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr9:79278800-79282200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:79279000-79281400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr9:79279200-79282200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:79279400-79280800	Strong transcription	Brain Angular Gyrus	brain
35	chr9:79279400-79281400	Weak transcription	HUVEC	blood vessel
36	chr9:79279400-79282000	Weak transcription	HSMM	muscle
37	chr9:79280000-79282400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr9:79280000-79283800	Enhancers	Stomach Mucosa	stomach
39	chr9:79280400-79280800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:79280600-79280800	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr9:79280600-79282000	Weak transcription	HSMMtube	muscle

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