Variant report

Variant	rs953097
Chromosome Location	chr10:98981914-98981915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:98975935..98978819-chr10:98980650..98983616,2	K562	blood:
2	chr10:98980948..98983777-chr10:98984731..98986586,2	K562	blood:
3	chr10:98980598..98984541-chr10:98986940..98989319,3	K562	blood:
4	chr10:98972014..98974656-chr10:98980625..98982181,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10736115	0.91[CEU][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap]
rs10748691	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748694	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10786319	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10786321	0.91[CEU][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap]
rs10786327	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs10786330	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap]
rs10882880	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10882881	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10882883	1.00[CEU][hapmap]
rs10882884	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10882889	0.95[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]
rs10882891	1.00[CEU][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap]
rs11189037	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189038	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189052	0.95[ASN][1000 genomes]
rs11189058	0.96[ASN][1000 genomes]
rs11189131	0.83[TSI][hapmap]
rs11189132	0.95[CEU][hapmap];0.85[JPT][hapmap]
rs12220695	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12357266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1468069	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2065861	0.90[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2297987	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2861875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3740512	0.95[CEU][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap]
rs3740522	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs3781373	0.86[CEU][hapmap];0.84[JPT][hapmap];0.88[TSI][hapmap]
rs3814164	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917762	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4917766	0.95[CEU][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap]
rs4919087	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap]
rs7078288	0.95[CEU][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs7901853	0.82[CEU][hapmap];0.84[JPT][hapmap];0.88[TSI][hapmap]
rs8181326	0.96[ASN][1000 genomes]
rs945189	0.95[CEU][hapmap]

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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1041614	chr10:98928281-99083056	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3361060	chr10:98939103-99025202	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs953097	EXOSC1	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98968000-98982200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr10:98968000-98982600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:98970400-98982000	Weak transcription	Fetal Kidney	kidney
4	chr10:98970800-98982200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr10:98971800-98982400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:98972400-98988400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:98973800-99019000	Weak transcription	HepG2	liver
8	chr10:98974000-98982600	Weak transcription	Esophagus	oesophagus
9	chr10:98974000-98986200	Weak transcription	Pancreas	Pancrea
10	chr10:98975800-98982200	Weak transcription	Ovary	ovary
11	chr10:98976000-99011400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:98976400-98988200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr10:98976800-98988200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr10:98977200-99023800	Weak transcription	Colonic Mucosa	Colon
15	chr10:98977400-99027000	Weak transcription	Right Ventricle	heart
16	chr10:98977600-98984800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:98978000-98982000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr10:98978000-98982200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:98978200-98982200	Weak transcription	Primary B cells from cord blood	blood
20	chr10:98978200-98985000	Weak transcription	Adipose Nuclei	Adipose
21	chr10:98978200-98985600	Weak transcription	HMEC	breast
22	chr10:98978200-99003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:98978200-99003600	Weak transcription	NHEK	skin
24	chr10:98978400-98983000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:98978600-98982000	Weak transcription	K562	blood
26	chr10:98978600-98982200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:98978600-98982600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr10:98978600-98982600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:98978600-98982600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:98978600-98982600	Weak transcription	Osteobl	bone
31	chr10:98978600-98983800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:98978600-98984000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:98978600-98984400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:98978600-98984400	Weak transcription	NHDF-Ad	bronchial
35	chr10:98978600-98985600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:98978600-98988800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr10:98978600-99019000	Weak transcription	HSMMtube	muscle
38	chr10:98978600-99030400	Weak transcription	NH-A	brain
39	chr10:98978600-99037400	Weak transcription	HSMM	muscle
40	chr10:98978600-99051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:98979000-98982000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:98979000-98982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr10:98979000-98983600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr10:98979000-98984200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:98979000-98984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:98979000-98990400	Strong transcription	Fetal Thymus	thymus
47	chr10:98979000-99027400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr10:98979200-98982200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:98979200-98982200	Weak transcription	Lung	lung
50	chr10:98979200-98984600	Weak transcription	HUVEC	blood vessel

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