Variant report

Variant	rs17851510
Chromosome Location	chr11:73106294-73106295
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73102189..73103729-chr11:73105258..73107363,2	K562	blood:
2	chr11:73104835..73106451-chr11:73106455..73108482,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256928	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1002127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10501411	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs11235770	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11235809	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs11544310	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11544311	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821094	0.89[CEU][hapmap]
rs11823289	1.00[MEX][hapmap]
rs11823913	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11828904	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12276892	1.00[CEU][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap]
rs12285885	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs12288753	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12290623	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17244596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs17244602	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17244616	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17310361	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17310374	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1938777	1.00[CEU][hapmap];0.82[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs2027760	0.89[CEU][hapmap]
rs2027761	0.89[CEU][hapmap]
rs2027763	0.89[CEU][hapmap]
rs2298469	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs28400367	0.82[EUR][1000 genomes]
rs34304845	0.82[AFR][1000 genomes]
rs3741149	0.89[CEU][hapmap]
rs3741152	0.89[CEU][hapmap]
rs56187614	0.81[AFR][1000 genomes]
rs57288336	0.81[AFR][1000 genomes]
rs57354084	0.81[EUR][1000 genomes]
rs58334887	0.84[EUR][1000 genomes]
rs58619954	0.81[AFR][1000 genomes]
rs60078907	0.83[EUR][1000 genomes]
rs61345051	0.87[EUR][1000 genomes]
rs7105681	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7110369	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs7112924	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114009	1.00[CEU][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs7114376	1.00[CEU][hapmap]
rs7115055	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7115806	0.89[CEU][hapmap]
rs7118982	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7120967	0.82[AFR][1000 genomes]
rs7122825	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7123985	1.00[CEU][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap]
rs7125598	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs7125949	0.89[CEU][hapmap]
rs7125978	0.89[CEU][hapmap]
rs7128786	1.00[MEX][hapmap]
rs7129990	0.89[CEU][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs724111	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs73542929	0.80[EUR][1000 genomes]
rs73542938	0.81[EUR][1000 genomes]
rs73542952	0.87[EUR][1000 genomes]
rs73542960	0.87[EUR][1000 genomes]
rs73542967	0.87[EUR][1000 genomes]
rs73542976	0.87[EUR][1000 genomes]
rs73542979	0.87[EUR][1000 genomes]
rs73542990	0.87[EUR][1000 genomes]
rs73543000	0.80[EUR][1000 genomes]
rs73544710	0.81[EUR][1000 genomes]
rs73544711	0.84[EUR][1000 genomes]
rs73544716	0.84[EUR][1000 genomes]
rs73544720	0.84[EUR][1000 genomes]
rs73544729	0.81[EUR][1000 genomes]
rs7925226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs7930454	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs7930880	0.89[CEU][hapmap]
rs7932197	1.00[MEX][hapmap]
rs7934218	1.00[CEU][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap]
rs7935948	1.00[CEU][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap]
rs7938391	1.00[CEU][hapmap]
rs7941359	1.00[CEU][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs7944346	1.00[CEU][hapmap]
rs7945825	1.00[CEU][hapmap]
rs7945984	1.00[MEX][hapmap]
rs7951072	1.00[CEU][hapmap];1.00[CHB][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	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17851510	P2RY2	cis	cerebellum	SCAN
rs17851510	FAM168A	cis	Whole Blood	GTEx
rs17851510	ARHGEF17	cis	Whole Blood	GTEx
rs17851510	CCND1	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73095200-73116200	Weak transcription	Liver	Liver
2	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:73097400-73106400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:73097400-73113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:73097600-73106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:73097600-73110200	Weak transcription	NHDF-Ad	bronchial
8	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:73098800-73113000	Weak transcription	Fetal Brain Female	brain
11	chr11:73099200-73106600	Strong transcription	Fetal Intestine Small	intestine
12	chr11:73099200-73112400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:73099400-73109600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:73099400-73112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:73099400-73113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:73099600-73119200	Weak transcription	Fetal Lung	lung
19	chr11:73100000-73116600	Weak transcription	Pancreas	Pancrea
20	chr11:73100000-73118400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:73100200-73106400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:73100200-73117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:73100400-73109600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:73100400-73109800	Weak transcription	Right Atrium	heart
25	chr11:73100600-73118600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:73100800-73109800	Weak transcription	HSMM	muscle
27	chr11:73100800-73115800	Weak transcription	HMEC	breast
28	chr11:73101000-73116200	Weak transcription	Brain Angular Gyrus	brain
29	chr11:73101000-73116400	Weak transcription	Brain Substantia Nigra	brain
30	chr11:73101200-73124800	Weak transcription	Psoas Muscle	Psoas
31	chr11:73101400-73110400	Strong transcription	GM12878-XiMat	blood
32	chr11:73101400-73112600	Weak transcription	HSMMtube	muscle
33	chr11:73101600-73107200	Strong transcription	Brain Cingulate Gyrus	brain
34	chr11:73101800-73110000	Strong transcription	Thymus	Thymus
35	chr11:73101800-73110200	Strong transcription	Dnd41	blood
36	chr11:73102200-73107000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:73103000-73106600	Strong transcription	NHLF	lung
38	chr11:73103000-73106800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:73103200-73108800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:73103600-73109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:73103600-73118400	Weak transcription	Esophagus	oesophagus
42	chr11:73103800-73109400	Strong transcription	Fetal Thymus	thymus
43	chr11:73103800-73116600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:73104000-73106400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:73104000-73109400	Weak transcription	Right Ventricle	heart
46	chr11:73104000-73116200	Weak transcription	Brain Anterior Caudate	brain
47	chr11:73104400-73108200	Strong transcription	Hela-S3	cervix
48	chr11:73104400-73109800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:73104400-73111000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:73104600-73106400	Weak transcription	Primary hematopoietic stem cells	blood

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