Variant report

Variant	rs11235712
Chromosome Location	chr11:72994199-72994200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72992812..72994748-chr11:73001998..73004463,2	K562	blood:
2	chr11:72984275..72986259-chr11:72992888..72994814,2	K562	blood:
3	chr11:72993607..72995871-chr11:72997923..72999784,2	MCF-7	breast:
4	chr11:72992534..72995319-chr11:73012911..73015904,2	MCF-7	breast:
5	chr11:72989269..72990878-chr11:72992739..72995474,2	MCF-7	breast:
6	chr11:72992008..72994369-chr11:73042375..73045074,2	K562	blood:

Variant related genes	Relation type
ENSG00000171631	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10898913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10898914	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10898915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235699	1.00[JPT][hapmap]
rs11235701	0.95[ASN][1000 genomes]
rs11235703	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235705	1.00[ASN][1000 genomes]
rs11235706	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11235707	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235710	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235711	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235713	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276627	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12363628	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787775	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12790447	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12790863	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs12794405	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801084	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808111	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894075	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	1.00[ASN][1000 genomes]
rs34023835	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385073	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455220	1.00[ASN][1000 genomes]
rs35963948	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432047	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592517	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs67897720	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7106903	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7114877	0.95[ASN][1000 genomes]
rs7116594	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123808	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127179	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127940	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7925649	1.00[JPT][hapmap]
rs7930891	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882904	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9988805	1.00[JPT][hapmap]

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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11235712	PAAF1	cis	parietal	SCAN
rs11235712	KISS1	trans	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72980400-72998400	Weak transcription	Right Atrium	heart
2	chr11:72983400-72994600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:72983600-72994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:72984600-73000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:72986200-72999800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:72990600-72995600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:72990800-72995600	Genic enhancers	Fetal Intestine Small	intestine
8	chr11:72991000-72995600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:72991200-72994400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:72991200-72995800	Enhancers	Fetal Intestine Large	intestine
11	chr11:72991600-72995000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:72992200-72998600	Weak transcription	Primary B cells from cord blood	blood
13	chr11:72992400-72998600	Weak transcription	Pancreas	Pancrea
14	chr11:72992600-72996000	Enhancers	Adipose Nuclei	Adipose
15	chr11:72992800-72997600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:72993000-72994400	Weak transcription	Esophagus	oesophagus
17	chr11:72993000-72995800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr11:72993200-72994200	Weak transcription	A549	lung
19	chr11:72993200-72994400	Weak transcription	Lung	lung
20	chr11:72993200-72994400	Weak transcription	Spleen	Spleen
21	chr11:72993200-72997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:72993400-72994400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:72993400-72994400	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:72993600-72996600	Enhancers	Placenta	Placenta
25	chr11:72993600-72997800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:72993600-72998200	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:72993600-72998800	Weak transcription	GM12878-XiMat	blood
28	chr11:72993800-72994600	Enhancers	Colonic Mucosa	Colon
29	chr11:72993800-72994800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:72993800-72997800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:72994000-72994200	Enhancers	Rectal Mucosa Donor 31	rectum

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