Variant report

Variant	rs10992355
Chromosome Location	chr9:95261477-95261478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95260294..95262206-chr9:95404638..95407034,2	MCF-7	breast:
2	chr9:95261329..95263829-chr9:95264776..95266744,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10992313	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992317	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992330	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10992339	0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10992357	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10992386	0.90[EUR][1000 genomes]
rs10992389	0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs12238865	0.82[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2295940	1.00[EUR][1000 genomes]
rs2895218	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6479417	1.00[YRI][hapmap]
rs715846	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72618186	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs754601	0.89[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1049599	chr9:95170139-95265558	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv1822933	chr9:95255176-95293308	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95231800-95268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:95243600-95263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr9:95246400-95267000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:95252200-95263800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:95252200-95266400	Weak transcription	NHLF	lung
6	chr9:95252400-95266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:95252600-95269400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:95255000-95274600	Weak transcription	Liver	Liver
9	chr9:95255200-95263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:95255200-95264000	Weak transcription	Esophagus	oesophagus
11	chr9:95255400-95263200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:95255400-95263800	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:95255400-95264000	Weak transcription	Aorta	Aorta
14	chr9:95255400-95266600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:95255400-95269400	Weak transcription	Right Ventricle	heart
16	chr9:95256200-95264200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:95256600-95263200	Weak transcription	Ovary	ovary
18	chr9:95256600-95266000	Weak transcription	Fetal Lung	lung
19	chr9:95256800-95267000	Weak transcription	Fetal Stomach	stomach
20	chr9:95257400-95263400	Weak transcription	Adipose Nuclei	Adipose
21	chr9:95257600-95264000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:95257600-95266800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:95258200-95268000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:95258600-95268200	Weak transcription	Fetal Heart	heart
25	chr9:95259000-95263600	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:95259200-95263200	Weak transcription	NHEK	skin
27	chr9:95259400-95262000	Weak transcription	Osteobl	bone
28	chr9:95259400-95264000	Weak transcription	HSMMtube	muscle
29	chr9:95261000-95262000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:95261200-95261600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:95261200-95261600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr9:95261200-95261600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:95261200-95261600	Enhancers	Right Atrium	heart
34	chr9:95261200-95261800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:95261200-95262000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:95261200-95262000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:95261200-95262000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:95261200-95262200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:95261200-95262200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:95261200-95262200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:95261200-95262200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:95261200-95262200	Enhancers	NHDF-Ad	bronchial
43	chr9:95261400-95261800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:95261400-95262200	Enhancers	Brain Anterior Caudate	brain
45	chr9:95261400-95262400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:95261400-95262400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:95261400-95268200	Weak transcription	Brain Substantia Nigra	brain

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