Variant report

Variant	rs12235377
Chromosome Location	chr9:117963884-117963885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10119915	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10120799	1.00[JPT][hapmap]
rs10122188	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10124924	0.82[ASN][1000 genomes]
rs10125919	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10817719	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10817720	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10817724	0.88[ASN][1000 genomes]
rs10817726	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10982560	1.00[JPT][hapmap]
rs10982563	1.00[JPT][hapmap]
rs10982564	1.00[JPT][hapmap]
rs10982565	1.00[JPT][hapmap]
rs10982568	1.00[JPT][hapmap]
rs10982569	1.00[JPT][hapmap]
rs10982570	1.00[JPT][hapmap]
rs10982571	1.00[JPT][hapmap]
rs10982585	1.00[JPT][hapmap]
rs10982589	1.00[JPT][hapmap]
rs10982590	1.00[JPT][hapmap]
rs10982591	1.00[JPT][hapmap]
rs10982596	0.82[ASN][1000 genomes]
rs10982597	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10982599	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10982607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10982610	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12237691	1.00[JPT][hapmap]
rs12345367	0.82[ASN][1000 genomes]
rs12350544	0.84[ASN][1000 genomes]
rs12350563	0.84[ASN][1000 genomes]
rs1414149	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs16932289	1.00[JPT][hapmap]
rs16932349	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs57367241	0.81[ASN][1000 genomes]
rs6478136	1.00[JPT][hapmap]
rs6478141	1.00[JPT][hapmap]
rs7027235	1.00[JPT][hapmap]
rs71505533	0.96[ASN][1000 genomes]
rs7357688	0.82[ASN][1000 genomes]
rs7847093	1.00[JPT][hapmap]
rs7851019	1.00[JPT][hapmap]
rs7851086	1.00[JPT][hapmap]
rs7851110	1.00[JPT][hapmap]
rs7851481	1.00[JPT][hapmap]
rs7859387	1.00[JPT][hapmap]
rs7862558	1.00[JPT][hapmap]
rs7864609	1.00[JPT][hapmap]
rs9299221	0.82[ASN][1000 genomes]
rs9886849	0.82[ASN][1000 genomes]
rs9886855	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893769	chr9:117936903-117985886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117930000-117964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:117955600-117969000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:117959400-117968600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:117960600-117964400	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:117960600-117964600	Weak transcription	NH-A	brain
6	chr9:117960600-117967400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:117960600-117969000	Weak transcription	Spleen	Spleen
8	chr9:117960800-117964600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:117960800-117964600	Weak transcription	Fetal Stomach	stomach
10	chr9:117960800-117965000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:117960800-117968800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:117960800-117969400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:117960800-117975800	Weak transcription	Fetal Kidney	kidney
14	chr9:117961600-117965600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:117962200-117972600	Enhancers	NHDF-Ad	bronchial
16	chr9:117962400-117964600	Weak transcription	Fetal Lung	lung
17	chr9:117962400-117966400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:117962400-117972400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:117963000-117964000	Enhancers	HMEC	breast
20	chr9:117963000-117965600	Enhancers	Adipose Nuclei	Adipose
21	chr9:117963000-117972600	Enhancers	NHEK	skin
22	chr9:117963000-117972600	Enhancers	Osteobl	bone
23	chr9:117963000-117977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:117963200-117964200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:117963200-117964200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:117963200-117969800	Enhancers	NHLF	lung
27	chr9:117963400-117964400	Weak transcription	Aorta	Aorta
28	chr9:117963600-117964400	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:117963600-117965200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr9:117963600-117967000	Weak transcription	HSMM	muscle
31	chr9:117963600-117969000	Weak transcription	Esophagus	oesophagus
32	chr9:117963800-117965000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:117963800-117965400	Weak transcription	Psoas Muscle	Psoas
34	chr9:117963800-117966000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:117963800-117967000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:117963800-117967800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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