Variant report

Variant	rs3814164
Chromosome Location	chr10:98982749-98982750
allele	A/G
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	chr10:98982062..98983736-chr10:98992807..98994462,2	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];0.94[CHD][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap]
rs10748691	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[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];0.95[JPT][hapmap]
rs10786319	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10786321	0.91[CEU][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap]
rs10786327	1.00[CEU][hapmap];0.80[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs10786330	1.00[CEU][hapmap];0.80[JPT][hapmap];0.86[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];0.95[JPT][hapmap]
rs10882889	0.95[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap]
rs10882891	1.00[CEU][hapmap];0.85[JPT][hapmap];0.86[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];0.80[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];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.86[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];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2861875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3740512	0.96[CEU][hapmap];0.80[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap]
rs3740522	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]
rs3781373	0.87[CEU][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap]
rs4917762	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4917766	0.96[CEU][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap]
rs4919087	1.00[CEU][hapmap];0.80[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs7078288	0.96[CEU][hapmap];0.80[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs7901853	0.82[CEU][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap]
rs8181326	0.96[ASN][1000 genomes]
rs945189	0.96[CEU][hapmap]
rs953097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
rs3814164	EXOSC1	cis	parietal	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98972400-98988400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:98973800-99019000	Weak transcription	HepG2	liver
3	chr10:98974000-98986200	Weak transcription	Pancreas	Pancrea
4	chr10:98976000-99011400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:98976400-98988200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:98976800-98988200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr10:98977200-99023800	Weak transcription	Colonic Mucosa	Colon
8	chr10:98977400-99027000	Weak transcription	Right Ventricle	heart
9	chr10:98977600-98984800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr10:98978200-98985000	Weak transcription	Adipose Nuclei	Adipose
11	chr10:98978200-98985600	Weak transcription	HMEC	breast
12	chr10:98978200-99003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:98978200-99003600	Weak transcription	NHEK	skin
14	chr10:98978400-98983000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:98978600-98983800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:98978600-98984000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:98978600-98984400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:98978600-98984400	Weak transcription	NHDF-Ad	bronchial
19	chr10:98978600-98985600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:98978600-98988800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr10:98978600-99019000	Weak transcription	HSMMtube	muscle
22	chr10:98978600-99030400	Weak transcription	NH-A	brain
23	chr10:98978600-99037400	Weak transcription	HSMM	muscle
24	chr10:98978600-99051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:98979000-98983600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr10:98979000-98984200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:98979000-98984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr10:98979000-98990400	Strong transcription	Fetal Thymus	thymus
29	chr10:98979000-99027400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:98979200-98984600	Weak transcription	HUVEC	blood vessel
31	chr10:98979200-98987200	Weak transcription	Fetal Intestine Large	intestine
32	chr10:98979400-98984800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:98979400-98989600	Weak transcription	NHLF	lung
34	chr10:98979400-99000600	Strong transcription	Dnd41	blood
35	chr10:98979600-98990000	Strong transcription	Thymus	Thymus
36	chr10:98979600-99003400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:98980000-98984400	Weak transcription	Gastric	stomach
38	chr10:98980200-98986200	Strong transcription	Fetal Intestine Small	intestine
39	chr10:98980200-98987000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:98980200-98989600	Strong transcription	Primary T cells from cord blood	blood
41	chr10:98980200-98992800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr10:98980400-98988000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:98980600-98984000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr10:98980600-98990400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr10:98980800-98987000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr10:98980800-98988800	Weak transcription	A549	lung
47	chr10:98981000-98987200	Strong transcription	Fetal Stomach	stomach
48	chr10:98981000-99018200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr10:98981200-98983400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr10:98981200-98984400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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