Variant report

Variant	rs10957277
Chromosome Location	chr8:64127717-64127718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:64124953-64127754	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:64127011-64127828	A549	lung:	n/a	n/a
3	POLR2A	chr8:64122869-64133933	K562	blood:	n/a	n/a
4	POLR2A	chr8:64127279-64127731	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000261542	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11785601	0.85[CHD][hapmap]
rs12677532	0.93[CEU][hapmap];0.92[JPT][hapmap]
rs13439842	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1435457	1.00[ASW][hapmap];0.93[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1435458	1.00[ASW][hapmap];0.81[CEU][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2217827	1.00[ASW][hapmap];0.93[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2241754	0.82[GIH][hapmap]
rs4739067	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6993229	0.89[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7000981	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7002089	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7464	0.93[CEU][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3351271	chr8:64125725-64128511	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10957277	PDE7A	cis	cerebellum	SCAN
rs10957277	TTPA	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64101600-64128000	Weak transcription	Colonic Mucosa	Colon
2	chr8:64101600-64136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:64103600-64129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:64107000-64132000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:64108600-64132000	Weak transcription	Lung	lung
6	chr8:64108600-64134000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:64109000-64132000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:64113200-64132600	Weak transcription	Aorta	Aorta
9	chr8:64113600-64132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:64113800-64131800	Weak transcription	Hela-S3	cervix
11	chr8:64114000-64130800	Weak transcription	NHEK	skin
12	chr8:64114600-64129200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:64114600-64131400	Weak transcription	HSMMtube	muscle
14	chr8:64115000-64129000	Weak transcription	Fetal Heart	heart
15	chr8:64117800-64131800	Weak transcription	NHLF	lung
16	chr8:64117800-64133200	Weak transcription	Fetal Stomach	stomach
17	chr8:64118400-64132600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:64118400-64133000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:64118800-64132000	Weak transcription	Small Intestine	intestine
20	chr8:64119000-64132000	Weak transcription	Ovary	ovary
21	chr8:64119000-64132000	Weak transcription	Pancreas	Pancrea
22	chr8:64119000-64132000	Weak transcription	Right Atrium	heart
23	chr8:64119000-64132000	Weak transcription	Spleen	Spleen
24	chr8:64119200-64132600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:64119600-64132800	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:64119600-64138800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:64119800-64129200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:64120400-64132000	Weak transcription	Adipose Nuclei	Adipose
29	chr8:64120600-64129600	Weak transcription	Brain Anterior Caudate	brain
30	chr8:64120600-64130200	Strong transcription	HSMM	muscle
31	chr8:64120800-64127800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:64121000-64127800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:64121200-64129200	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:64121200-64129800	Weak transcription	Brain Substantia Nigra	brain
35	chr8:64121200-64132000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:64121600-64130600	Weak transcription	Left Ventricle	heart
37	chr8:64121600-64131800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:64121600-64132600	Weak transcription	Psoas Muscle	Psoas
39	chr8:64122000-64128400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:64122000-64132600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr8:64122600-64132000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:64122600-64138600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:64122800-64131600	Weak transcription	NH-A	brain
44	chr8:64122800-64135000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:64122800-64135000	Weak transcription	GM12878-XiMat	blood
46	chr8:64122800-64135200	Weak transcription	Fetal Kidney	kidney
47	chr8:64123000-64132000	Weak transcription	Fetal Lung	lung
48	chr8:64123000-64132600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:64123000-64132600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:64123000-64138200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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