Variant report

Variant	rs4647730
Chromosome Location	chr11:47252237-47252238
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47251551..47253221-chr11:47255749..47257374,2	K562	blood:
2	chr11:47245041..47247792-chr11:47251333..47254265,2	K562	blood:
3	chr11:47234472..47239547-chr11:47250342..47254554,4	MCF-7	breast:
4	chr11:47250850..47253100-chr11:47255691..47257332,2	MCF-7	breast:
5	chr11:47249459..47253221-chr11:47254419..47257374,3	K562	blood:

Variant related genes	Relation type
ENSG00000134574	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1050244	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838677	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039099	1.00[CEU][hapmap];0.87[CHD][hapmap]
rs11039103	0.87[CHD][hapmap]
rs11039143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039145	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039146	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039160	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11039161	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11039177	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11039179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs11039185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11530167	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3729936	1.00[AMR][1000 genomes]
rs3729948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs3729953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3729991	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs45603841	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647731	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4752830	0.82[JPT][hapmap]
rs56023479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57741802	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57852039	0.93[EUR][1000 genomes]
rs58528246	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58912703	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61124822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110333	1.00[AMR][1000 genomes]
rs7938933	1.00[CEU][hapmap]
rs7943429	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4647730	ACP2	cis	multi-tissue	Pritchard
rs4647730	MYBPC3	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47255800	Weak transcription	Brain Anterior Caudate	brain
2	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47238600-47253800	Weak transcription	Aorta	Aorta
4	chr11:47238600-47254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:47238600-47255400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:47238600-47255400	Weak transcription	Right Ventricle	heart
7	chr11:47238600-47255600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:47238600-47255800	Weak transcription	Brain Substantia Nigra	brain
9	chr11:47238600-47255800	Weak transcription	Right Atrium	heart
10	chr11:47238600-47256000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:47238600-47259600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:47238600-47261000	Weak transcription	Small Intestine	intestine
13	chr11:47238800-47254000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47239400-47255000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:47239800-47254200	Weak transcription	Lung	lung
16	chr11:47239800-47255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:47239800-47255600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:47240000-47252400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:47240000-47260200	Weak transcription	Fetal Brain Female	brain
20	chr11:47240200-47254200	Weak transcription	Esophagus	oesophagus
21	chr11:47240200-47254200	Weak transcription	Stomach Mucosa	stomach
22	chr11:47240200-47254600	Weak transcription	Pancreas	Pancrea
23	chr11:47240200-47255400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:47240200-47255600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:47240200-47255800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:47240200-47256000	Weak transcription	Gastric	stomach
27	chr11:47240200-47266600	Weak transcription	Fetal Brain Male	brain
28	chr11:47240400-47255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:47241400-47255600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:47241800-47254400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:47241800-47256000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:47242000-47255800	Weak transcription	Left Ventricle	heart
33	chr11:47242200-47255400	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:47242200-47258200	Weak transcription	Fetal Lung	lung
35	chr11:47242400-47254200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:47242400-47256000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:47242400-47257800	Weak transcription	K562	blood
38	chr11:47242400-47258000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:47242400-47258000	Weak transcription	Primary B cells from cord blood	blood
40	chr11:47242400-47269200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:47242600-47253200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:47242600-47259600	Weak transcription	Brain Germinal Matrix	brain
43	chr11:47242600-47260200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:47242800-47254200	Weak transcription	NHLF	lung
45	chr11:47242800-47255200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:47243000-47255600	Weak transcription	Fetal Heart	heart
47	chr11:47243600-47269200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:47244400-47255400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:47244600-47254400	Weak transcription	Liver	Liver
50	chr11:47245400-47255400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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