Variant report

Variant	rs10749606
Chromosome Location	chr10:91097068-91097069
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91092210..91094053-chr10:91096573..91099425,2	K562	blood:
2	chr10:91092012..91093700-chr10:91094311..91097149,2	K562	blood:

Variant related genes	Relation type
ENSG00000119917	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10159774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10509570	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs10749605	0.92[CEU][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap]
rs10749607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10887943	1.00[JPT][hapmap]
rs1888923	0.89[CEU][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs215493	0.89[CEU][hapmap];0.87[MEX][hapmap]
rs303172	0.84[CEU][hapmap]
rs303217	0.96[CEU][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs304440	0.88[CEU][hapmap]
rs304448	0.85[CEU][hapmap]
rs304449	0.89[CEU][hapmap]
rs304478	0.96[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs304485	0.89[CEU][hapmap]
rs304494	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs304495	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs304504	0.96[CEU][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs305371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs305373	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs305375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs305376	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs305377	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4933504	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4934471	0.92[CEU][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4934473	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4934475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6586184	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7094510	0.92[CEU][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes]
rs7095398	0.92[CEU][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap]
rs954439	0.85[CEU][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes]
rs975686	0.89[AMR][1000 genomes];0.87[EUR][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	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	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10749606	IFIT5	cis	Skin Sun Exposed Lower leg	GTEx
rs10749606	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs10749606	IFIT5	cis	Artery Tibial	GTEx
rs10749606	IFIT1	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91088000-91099800	Weak transcription	Gastric	stomach
2	chr10:91090200-91107600	Weak transcription	Pancreas	Pancrea
3	chr10:91093400-91097200	Enhancers	Brain Substantia Nigra	brain
4	chr10:91093400-91097800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr10:91093400-91100200	Weak transcription	K562	blood
6	chr10:91093400-91100800	Weak transcription	Right Ventricle	heart
7	chr10:91093800-91097200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:91093800-91097400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr10:91093800-91099000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr10:91093800-91106000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:91093800-91106400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:91094000-91097200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr10:91094000-91097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:91094000-91097200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:91094000-91097200	Enhancers	Brain Anterior Caudate	brain
16	chr10:91094000-91097200	Weak transcription	NH-A	brain
17	chr10:91094000-91097400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr10:91094000-91097400	Weak transcription	NHLF	lung
19	chr10:91094000-91098000	Weak transcription	HSMMtube	muscle
20	chr10:91094000-91098200	Weak transcription	HSMM	muscle
21	chr10:91094000-91098400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:91094000-91101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:91094000-91102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:91094000-91102200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:91094000-91103400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:91094000-91105400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr10:91094000-91110200	Weak transcription	Colonic Mucosa	Colon
28	chr10:91094000-91112000	Weak transcription	Esophagus	oesophagus
29	chr10:91094200-91097200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr10:91094200-91097200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:91094200-91097200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:91094200-91097200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:91094200-91097200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:91094200-91097200	Weak transcription	Left Ventricle	heart
35	chr10:91094200-91097400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:91094200-91097400	Weak transcription	Aorta	Aorta
37	chr10:91094200-91097400	Enhancers	Brain Angular Gyrus	brain
38	chr10:91094200-91097400	Weak transcription	Fetal Lung	lung
39	chr10:91094200-91097800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:91094200-91098000	Weak transcription	Placenta	Placenta
41	chr10:91094200-91098000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr10:91094200-91098000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr10:91094200-91098200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr10:91094200-91098600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr10:91094200-91099200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:91094200-91101400	Weak transcription	Osteobl	bone
47	chr10:91094200-91102000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:91094200-91102000	Weak transcription	NHDF-Ad	bronchial
49	chr10:91094200-91103400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr10:91094200-91106800	Weak transcription	Fetal Kidney	kidney

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