Variant report

Variant	rs715846
Chromosome Location	chr9:95273013-95273014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:70882181..70884550-chr9:95271152..95273648,2	MCF-7	breast:
2	chr9:95127021..95128965-chr9:95271997..95274273,2	K562	blood:
3	chr9:95269994..95273497-chr9:95274133..95276340,3	K562	blood:
4	chr9:95265820..95267695-chr9:95271447..95273946,2	K562	blood:

Variant related genes	Relation type
ENSG00000131844	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10491805	1.00[TSI][hapmap]
rs10992313	1.00[EUR][1000 genomes]
rs10992317	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992330	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10992339	1.00[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10992355	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]
rs10992357	0.93[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];0.93[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2295940	1.00[EUR][1000 genomes]
rs2895218	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72618186	0.83[AFR][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:4 , 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	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95255000-95274600	Weak transcription	Liver	Liver
2	chr9:95268400-95274000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:95268600-95278600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:95269400-95274600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:95269800-95274200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:95269800-95298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:95270200-95273800	Weak transcription	NHEK	skin
8	chr9:95270400-95274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:95270400-95275400	Weak transcription	Aorta	Aorta
10	chr9:95270400-95281000	Weak transcription	Thymus	Thymus
11	chr9:95270600-95274400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:95270600-95275200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:95270600-95275200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr9:95270600-95275400	Weak transcription	Psoas Muscle	Psoas
15	chr9:95270600-95275400	Weak transcription	Right Ventricle	heart
16	chr9:95270800-95274200	Weak transcription	NH-A	brain
17	chr9:95270800-95274200	Weak transcription	NHDF-Ad	bronchial
18	chr9:95270800-95274400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:95270800-95274600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:95270800-95274600	Weak transcription	Fetal Intestine Large	intestine
21	chr9:95270800-95278400	Weak transcription	Esophagus	oesophagus
22	chr9:95270800-95284800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:95271000-95274000	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:95271000-95274000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:95271000-95274200	Weak transcription	Fetal Intestine Small	intestine
26	chr9:95271000-95275200	Weak transcription	Fetal Stomach	stomach
27	chr9:95271000-95275200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:95271000-95275400	Weak transcription	Fetal Heart	heart
29	chr9:95271200-95284800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:95271400-95274200	Weak transcription	Fetal Lung	lung
31	chr9:95271400-95274400	Weak transcription	Fetal Kidney	kidney
32	chr9:95271400-95275000	Weak transcription	Ovary	ovary
33	chr9:95271600-95274000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr9:95271600-95274200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:95271600-95279200	Weak transcription	Gastric	stomach
36	chr9:95271600-95285600	Weak transcription	Left Ventricle	heart
37	chr9:95271800-95274400	Weak transcription	Adipose Nuclei	Adipose
38	chr9:95271800-95275400	Weak transcription	Fetal Muscle Leg	muscle
39	chr9:95272000-95274200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:95272600-95273400	Enhancers	GM12878-XiMat	blood
41	chr9:95272800-95273200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:95272800-95273200	Enhancers	Osteobl	bone
43	chr9:95273000-95273400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:95273000-95274400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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