Variant report

Variant	rs303210
Chromosome Location	chr10:91162677-91162678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10788641	0.82[CEU][hapmap];0.85[MEX][hapmap]
rs10887946	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs10887947	0.82[CEU][hapmap]
rs11203078	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs184236	0.83[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs188589	0.83[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs188591	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2484046	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2484047	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs303171	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs303173	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs303208	0.86[JPT][hapmap];0.85[MEX][hapmap]
rs303209	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs303212	0.86[JPT][hapmap]
rs303213	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs303215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs303216	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs303218	0.82[ASW][hapmap];0.94[CEU][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs304411	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs304412	0.85[AMR][1000 genomes]
rs304413	0.82[AMR][1000 genomes]
rs304434	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs304436	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304437	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs304441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs304442	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs304447	0.83[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs304450	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs304492	0.84[CHB][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs304493	0.88[CEU][hapmap];0.81[TSI][hapmap]
rs304497	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs304498	0.94[CEU][hapmap]
rs304500	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs304501	0.81[JPT][hapmap];0.85[MEX][hapmap]
rs304502	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs304503	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs304505	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs304506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs304508	0.81[JPT][hapmap];0.84[MEX][hapmap]
rs305374	0.83[CEU][hapmap]
rs627127	0.83[CEU][hapmap];0.80[MEX][hapmap]
rs781501	0.85[AMR][1000 genomes]
rs812451	0.82[CEU][hapmap]

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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs303210	IFIT1	cis	cerebellum	SCAN
rs303210	IFIT1	Cis_1M	lymphoblastoid	RTeQTL
rs303210	IFIT5	cis	Esophagus Muscularis	GTEx
rs303210	IFIT5	cis	lymphoblastoid	seeQTL
rs303210	IFIT5	cis	Esophagus Mucosa	GTEx
rs303210	LIPA	cis	parietal	SCAN
rs303210	IFIT5	cis	Nerve Tibial	GTEx
rs303210	IDE	cis	parietal	SCAN
rs303210	IFIT5	cis	Artery Tibial	GTEx
rs303210	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs303210	IFIT5	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91152800-91173600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:91152800-91174000	Weak transcription	Gastric	stomach
3	chr10:91153000-91164200	Weak transcription	Esophagus	oesophagus
4	chr10:91153200-91163800	Weak transcription	Spleen	Spleen
5	chr10:91153200-91173600	Weak transcription	Brain Germinal Matrix	brain
6	chr10:91153400-91163400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:91153400-91164000	Weak transcription	Pancreas	Pancrea
8	chr10:91153400-91172400	Weak transcription	Thymus	Thymus
9	chr10:91153600-91165400	Weak transcription	Fetal Thymus	thymus
10	chr10:91153600-91173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:91154000-91164200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr10:91154000-91166800	Weak transcription	Right Ventricle	heart
13	chr10:91154200-91164000	Weak transcription	Right Atrium	heart
14	chr10:91154200-91172400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr10:91154200-91173200	Weak transcription	Primary B cells from cord blood	blood
16	chr10:91154200-91173400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:91154200-91173400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:91154600-91173000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr10:91154800-91163400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:91155200-91164000	Weak transcription	Brain Angular Gyrus	brain
21	chr10:91155200-91173200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr10:91155400-91163800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:91155400-91172800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:91155400-91173600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr10:91156400-91172400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr10:91156400-91174000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:91158200-91163200	Weak transcription	Small Intestine	intestine
28	chr10:91158400-91166000	Weak transcription	NHDF-Ad	bronchial
29	chr10:91158400-91166200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:91158400-91168600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:91158400-91169600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:91158800-91164000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr10:91159600-91171800	Weak transcription	Fetal Intestine Small	intestine
34	chr10:91159800-91165800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:91160600-91164600	Strong transcription	Ovary	ovary
36	chr10:91161200-91162800	Strong transcription	Colon Smooth Muscle	Colon
37	chr10:91161600-91173600	Weak transcription	Fetal Brain Female	brain
38	chr10:91161800-91164200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr10:91162000-91162800	Strong transcription	HSMM	muscle
40	chr10:91162000-91163000	Strong transcription	Fetal Lung	lung
41	chr10:91162000-91163400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr10:91162000-91163400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:91162000-91163400	Strong transcription	Left Ventricle	heart
44	chr10:91162000-91164200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:91162000-91164200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr10:91162000-91164600	Strong transcription	Adipose Nuclei	Adipose
47	chr10:91162000-91164600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr10:91162000-91164600	Strong transcription	GM12878-XiMat	blood
49	chr10:91162000-91165000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:91162200-91162800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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