Variant report

Variant	rs10820807
Chromosome Location	chr9:108250178-108250179
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108245164..108247258-chr9:108249628..108251228,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1018848	0.84[AMR][1000 genomes]
rs1018850	1.00[YRI][hapmap]
rs1024366	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10820805	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10820806	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10820816	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10991661	0.80[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10991662	0.84[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10991664	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10991666	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10991669	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991675	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10991680	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10991686	0.81[AMR][1000 genomes]
rs10991688	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11525961	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11535511	0.84[AMR][1000 genomes]
rs12235779	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12554844	1.00[YRI][hapmap]
rs12555267	0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs1327351	0.84[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1329021	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1329022	0.84[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1576285	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16924672	0.85[CEU][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16924676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1858744	0.84[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs1928293	0.84[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1928294	0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2010861	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2068266	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2518109	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2518110	0.84[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2518111	0.81[ASN][1000 genomes]
rs2518113	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2518117	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2518118	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2518119	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2518121	1.00[YRI][hapmap]
rs2518122	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2518127	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2518132	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2518133	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2768278	0.85[CEU][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2768282	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2768284	0.84[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2768285	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2768286	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2768287	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2768288	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2768293	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2768295	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2768296	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2904847	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4302902	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56134629	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72744266	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72744269	0.82[ASN][1000 genomes]
rs879115	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs879117	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs879118	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs885955	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][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	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv615115	chr9:108205262-108298183	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893692	chr9:108218852-108320988	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
5	nsv1050141	chr9:108219667-108317424	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
2	chr9:108220400-108252600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:108221000-108257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:108221000-108257200	Weak transcription	Fetal Stomach	stomach
5	chr9:108221000-108266000	Weak transcription	NHEK	skin
6	chr9:108221000-108277200	Weak transcription	Left Ventricle	heart
7	chr9:108222200-108259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:108222200-108277000	Weak transcription	Ovary	ovary
9	chr9:108222400-108259000	Weak transcription	HSMMtube	muscle
10	chr9:108222600-108311400	Weak transcription	Fetal Heart	heart
11	chr9:108223200-108252600	Weak transcription	K562	blood
12	chr9:108223600-108255200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr9:108227400-108271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:108227600-108278400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:108228000-108258800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr9:108228200-108250200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:108228400-108252400	Weak transcription	Fetal Intestine Large	intestine
18	chr9:108228400-108257600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:108231400-108250200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:108231400-108257000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:108231800-108254400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr9:108231800-108296800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:108232000-108252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:108232600-108268800	Weak transcription	Fetal Brain Female	brain
25	chr9:108233000-108255000	Weak transcription	Dnd41	blood
26	chr9:108233400-108253000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:108233400-108253000	Weak transcription	Hela-S3	cervix
28	chr9:108233600-108250200	Weak transcription	A549	lung
29	chr9:108233600-108250400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:108233600-108269200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:108233600-108272000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:108233600-108272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:108233600-108277000	Weak transcription	Adipose Nuclei	Adipose
34	chr9:108235400-108250200	Weak transcription	HSMM	muscle
35	chr9:108236400-108259000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:108237800-108250200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr9:108237800-108259200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:108239000-108253800	Weak transcription	NHDF-Ad	bronchial
39	chr9:108242600-108300000	Weak transcription	Brain Anterior Caudate	brain
40	chr9:108243400-108250600	Weak transcription	Brain Hippocampus Middle	brain
41	chr9:108243400-108250600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr9:108243400-108252400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr9:108244400-108250800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr9:108245200-108251600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:108246000-108251000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:108246400-108261200	Weak transcription	GM12878-XiMat	blood
47	chr9:108246800-108250600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:108247000-108251200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:108247800-108250200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:108247800-108250600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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