Variant report

Variant	rs7025248
Chromosome Location	chr9:17161857-17161858
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1023121	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs13286174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16935348	1.00[EUR][1000 genomes]
rs16935377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16935382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16935390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16935395	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16935397	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16935399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16935425	1.00[YRI][hapmap]
rs57907512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58091700	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59211421	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59274061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59305778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59433459	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59453259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59698728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59700619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60401056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60503811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60546162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61562344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7020252	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7024284	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7024714	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7025130	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7025329	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7029144	0.95[AFR][1000 genomes]
rs7029226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7036367	0.95[AFR][1000 genomes]
rs7036370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7037203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7847197	1.00[YRI][hapmap]
rs7847317	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7847327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7856179	0.86[AFR][1000 genomes]
rs7856183	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7856549	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7856550	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7861471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7864861	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892657	chr9:17008137-17223492	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1023525	chr9:17121773-17236072	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv892659	chr9:17130360-17236376	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv892660	chr9:17134245-17269437	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv428537	chr9:17146369-17308494	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17136400-17163800	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:17136400-17164200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:17146200-17167200	Weak transcription	Gastric	stomach
4	chr9:17148800-17167400	Weak transcription	Dnd41	blood
5	chr9:17149400-17167400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:17154200-17162800	Weak transcription	Right Ventricle	heart
7	chr9:17155400-17169400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:17155600-17169200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:17155800-17164400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:17155800-17167400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:17156000-17169000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:17156000-17171400	Weak transcription	Liver	Liver
13	chr9:17156200-17162000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:17156200-17164200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:17156200-17164400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:17156200-17165600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr9:17156200-17165800	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:17156200-17166200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr9:17156200-17167400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:17156200-17168800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:17156200-17168800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr9:17156200-17169000	Weak transcription	Left Ventricle	heart
23	chr9:17156200-17171400	Weak transcription	Ovary	ovary
24	chr9:17156200-17171400	Weak transcription	Pancreas	Pancrea
25	chr9:17156200-17171600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:17156200-17177400	Weak transcription	Fetal Stomach	stomach
27	chr9:17156200-17178200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:17156200-17178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:17156400-17169000	Weak transcription	Fetal Lung	lung
30	chr9:17157800-17169000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr9:17158000-17167400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:17159800-17162400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:17159800-17163000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:17159800-17195600	Weak transcription	Aorta	Aorta

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