Variant report

Variant	rs7018395
Chromosome Location	chr8:91953138-91953139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1002583	0.81[AMR][1000 genomes]
rs1003996	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10086609	0.87[GIH][hapmap];0.80[TSI][hapmap]
rs10108486	0.94[CEU][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10108616	0.88[MEX][hapmap]
rs10112439	0.81[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1011254	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1055146	0.84[MEX][hapmap]
rs10956781	0.87[GIH][hapmap];0.80[TSI][hapmap]
rs10956782	0.87[GIH][hapmap];0.80[TSI][hapmap]
rs1125229	0.88[MEX][hapmap];0.80[TSI][hapmap]
rs1160329	0.88[MEX][hapmap]
rs12675931	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13265644	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13276591	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs1352159	0.84[MEX][hapmap]
rs1354519	0.88[MEX][hapmap]
rs1354520	0.84[MEX][hapmap]
rs1386107	0.88[MEX][hapmap];0.80[TSI][hapmap]
rs1386111	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1386112	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1463920	0.87[GIH][hapmap];0.80[TSI][hapmap]
rs1486465	0.87[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs1504795	0.88[MEX][hapmap]
rs1542666	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1552397	0.88[MEX][hapmap]
rs16905444	0.87[GIH][hapmap];0.80[TSI][hapmap]
rs2054805	0.83[CEU][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs2054806	0.84[MEX][hapmap]
rs2101378	0.88[MEX][hapmap]
rs2129260	0.88[MEX][hapmap];0.80[TSI][hapmap]
rs2129261	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255173	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2339289	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2339291	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2631012	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631014	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2631024	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631027	0.81[ASN][1000 genomes]
rs2631030	0.87[ASN][1000 genomes]
rs2631033	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2677573	0.94[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677580	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2740776	0.89[EUR][1000 genomes]
rs2740782	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2740788	0.84[MEX][hapmap]
rs2740791	0.87[MEX][hapmap]
rs2740795	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2740799	0.88[CEU][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4448231	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4634599	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471261	0.88[MEX][hapmap];0.80[TSI][hapmap]
rs6994971	0.86[GIH][hapmap];0.82[TSI][hapmap]
rs7005565	0.94[CEU][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7818155	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs7825360	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7828122	0.83[CEU][hapmap];0.97[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs7829663	0.83[MEX][hapmap]
rs7831333	0.84[MEX][hapmap]
rs997898	0.84[MEX][hapmap]
rs997899	0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7018395	INTS8	cis	cerebellum	SCAN
rs7018395	TP53INP1	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91948400-91953200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:91950000-91953200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:91950800-91953200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:91950800-91953400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:91951000-91953400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:91951800-91954200	Enhancers	Fetal Lung	lung
7	chr8:91951800-91986400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:91952000-91953600	Enhancers	Fetal Brain Male	brain
9	chr8:91952000-91953600	Enhancers	Fetal Brain Female	brain
10	chr8:91952200-91953600	Enhancers	Rectal Smooth Muscle	rectum
11	chr8:91952200-91953800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:91952200-91953800	Enhancers	Brain Hippocampus Middle	brain
13	chr8:91952200-91953800	Enhancers	Fetal Stomach	stomach
14	chr8:91952400-91953600	Enhancers	Brain Angular Gyrus	brain
15	chr8:91952400-91953600	Enhancers	Brain Anterior Caudate	brain
16	chr8:91952400-91953600	Enhancers	Brain Substantia Nigra	brain
17	chr8:91952600-91953200	Enhancers	Brain Germinal Matrix	brain
18	chr8:91952600-91953200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:91952600-91953600	Enhancers	Adipose Nuclei	Adipose
20	chr8:91952600-91955000	Enhancers	Fetal Muscle Leg	muscle
21	chr8:91952600-91956000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:91952600-91960200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:91952800-91953200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:91952800-91953200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr8:91952800-91953200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr8:91952800-91953200	Enhancers	Fetal Muscle Trunk	muscle
27	chr8:91952800-91953200	Flanking Active TSS	Right Ventricle	heart
28	chr8:91952800-91953400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:91952800-91953400	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr8:91952800-91953400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr8:91952800-91953600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:91952800-91953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:91952800-91953600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:91952800-91953600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:91952800-91953600	Enhancers	Left Ventricle	heart
36	chr8:91952800-91953600	Enhancers	Lung	lung
37	chr8:91952800-91953600	Enhancers	HSMMtube	muscle
38	chr8:91952800-91953600	Enhancers	NHLF	lung
39	chr8:91952800-91954000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:91952800-91954000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:91952800-91954600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:91952800-91954600	Enhancers	Fetal Kidney	kidney
43	chr8:91952800-91955400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:91953000-91953200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:91953000-91953200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr8:91953000-91953400	Enhancers	Fetal Heart	heart
47	chr8:91953000-91953400	Flanking Active TSS	Right Atrium	heart
48	chr8:91953000-91953400	Enhancers	HSMM	muscle
49	chr8:91953000-91953400	Enhancers	NH-A	brain
50	chr8:91953000-91953400	Enhancers	NHDF-Ad	bronchial

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