Variant report

Variant	rs7951793
Chromosome Location	chr11:57101440-57101441
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	CEBPB	chr11:57101434-57101678	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57100645..57102849-chr11:57191907..57194145,2	K562	blood:
2	chr11:57101355..57105024-chr11:57147650..57149782,3	K562	blood:
3	chr11:57100898..57102455-chr11:57439946..57441627,2	K562	blood:

Variant related genes	Relation type
P2RX3	TF binding region
ENSG00000156575	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000134802	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10792086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792089	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792091	0.92[ASN][1000 genomes]
rs10896598	0.92[ASN][1000 genomes]
rs10896603	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896604	1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs10896605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896608	1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs11228995	0.92[ASN][1000 genomes]
rs11228997	1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs11229003	0.92[ASN][1000 genomes]
rs11229011	0.92[ASN][1000 genomes]
rs11602265	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602266	0.92[ASN][1000 genomes]
rs11603691	0.92[ASN][1000 genomes]
rs11607950	0.92[ASN][1000 genomes]
rs12365472	0.92[ASN][1000 genomes]
rs12576878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1815769	0.92[ASN][1000 genomes]
rs2230649	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34135716	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938863	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs4938864	0.92[ASN][1000 genomes]
rs61888886	0.92[ASN][1000 genomes]
rs61888887	0.92[ASN][1000 genomes]
rs61888888	0.92[ASN][1000 genomes]
rs7106462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap]
rs7111339	0.92[ASN][1000 genomes]
rs7129491	1.00[CHD][hapmap];0.92[ASN][1000 genomes]

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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7951793	PRPF19	cis	cerebellum	SCAN
rs7951793	TIMM10	cis	parietal	SCAN
rs7951793	OR8I2	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57093200-57101600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:57093200-57102800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:57093400-57102000	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr11:57093600-57101600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:57093600-57102000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:57093800-57101600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:57093800-57101600	Strong transcription	Brain Anterior Caudate	brain
8	chr11:57093800-57101800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:57093800-57102000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:57094000-57101600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:57094000-57101600	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:57094000-57101800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:57094000-57101800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:57094000-57101800	Strong transcription	Fetal Lung	lung
15	chr11:57094000-57101800	Strong transcription	NHEK	skin
16	chr11:57094000-57102000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:57094200-57101600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:57094200-57101800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:57094200-57101800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:57094200-57102000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:57094200-57102000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr11:57094200-57102000	Strong transcription	Placenta	Placenta
23	chr11:57094200-57102000	Strong transcription	Fetal Stomach	stomach
24	chr11:57094200-57102000	Weak transcription	Right Atrium	heart
25	chr11:57094200-57102000	Strong transcription	Spleen	Spleen
26	chr11:57094400-57101600	Strong transcription	Primary T cells from cord blood	blood
27	chr11:57094400-57101600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:57094400-57101600	Weak transcription	Fetal Heart	heart
29	chr11:57094400-57101600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:57094400-57101800	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr11:57094400-57101800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:57094400-57101800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr11:57094400-57101800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr11:57094400-57102000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:57094400-57102000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:57094400-57102000	Strong transcription	Right Ventricle	heart
37	chr11:57094600-57101600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:57094600-57101600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:57094600-57101800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:57094600-57101800	Strong transcription	Fetal Intestine Large	intestine
41	chr11:57094600-57101800	Strong transcription	Left Ventricle	heart
42	chr11:57094600-57101800	Strong transcription	HUVEC	blood vessel
43	chr11:57094800-57101600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:57097000-57102000	Weak transcription	Stomach Mucosa	stomach
45	chr11:57099200-57101600	Genic enhancers	Dnd41	blood
46	chr11:57099600-57102000	Weak transcription	Psoas Muscle	Psoas
47	chr11:57100000-57101600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:57100200-57101600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:57100400-57101800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:57100400-57101800	Genic enhancers	Brain Germinal Matrix	brain

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