Variant report

Variant	rs1685333
Chromosome Location	chr11:73728159-73728160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73692695..73694279-chr11:73727218..73729337,2	K562	blood:
2	chr11:73720266..73722742-chr11:73727653..73729816,3	K562	blood:
3	chr11:73721549..73725219-chr11:73728115..73731399,4	MCF-7	breast:
4	chr11:73726799..73729660-chr11:73730296..73732762,2	MCF-7	breast:
5	chr11:73692496..73695523-chr11:73726930..73730981,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175564	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10431176	0.85[CHB][hapmap];0.92[CHD][hapmap]
rs10501415	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs10898955	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs10898957	0.95[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap]
rs10898960	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs10898961	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs10898962	0.94[CHB][hapmap];0.92[CHD][hapmap]
rs10898963	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs11235965	0.83[JPT][hapmap];0.92[TSI][hapmap]
rs11235971	0.92[GIH][hapmap];0.83[JPT][hapmap];0.92[TSI][hapmap]
rs11235972	0.94[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235988	0.82[ASN][1000 genomes]
rs11235994	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap]
rs11235995	0.95[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap]
rs11235996	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs11235999	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs11236000	0.95[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap]
rs11236003	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs11236027	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11236029	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs11600314	0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs11602451	0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs11604125	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs11604713	0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap]
rs11606804	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs11607335	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs11608147	0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap]
rs12223320	0.95[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap]
rs12574038	0.95[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap]
rs12574039	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs12574047	0.95[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap]
rs12574556	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs12575211	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs1527302	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs1615607	0.82[ASN][1000 genomes]
rs17132715	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs1800006	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1800849	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944971	0.90[CHB][hapmap];0.92[CHD][hapmap]
rs2075576	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2178000	0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap]
rs3741135	0.92[GIH][hapmap];0.83[JPT][hapmap];0.96[TSI][hapmap]
rs3814724	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs4019299	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs4539349	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs4565925	0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap]
rs7110734	0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap]
rs7115407	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs7125032	0.95[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap]
rs7930460	0.92[GIH][hapmap];0.83[JPT][hapmap];0.96[TSI][hapmap]
rs826035	0.82[ASN][1000 genomes]
rs826044	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];0.82[ASN][1000 genomes]
rs826081	0.92[MKK][hapmap]
rs826082	0.92[MKK][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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv525322	chr11:73728159-73728522	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1685333	PPME1	cis	cerebellum	SCAN
rs1685333	STARD10	cis	parietal	SCAN
rs1685333	FOLR3	cis	parietal	SCAN
rs1685333	P4HA3	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
4	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
5	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:73711800-73729200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:73714200-73729800	Weak transcription	Hela-S3	cervix
11	chr11:73715000-73729800	Weak transcription	Ovary	ovary
12	chr11:73718600-73728800	Weak transcription	Liver	Liver
13	chr11:73720000-73743400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:73721200-73731600	Strong transcription	Fetal Brain Female	brain
15	chr11:73721400-73729600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:73721600-73729000	Strong transcription	Fetal Intestine Small	intestine
17	chr11:73721600-73729600	Strong transcription	Fetal Stomach	stomach
18	chr11:73721600-73729800	Weak transcription	HMEC	breast
19	chr11:73721600-73731400	Strong transcription	Brain Germinal Matrix	brain
20	chr11:73721800-73729200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:73721800-73730400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:73721800-73743000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:73722000-73744000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:73722200-73767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:73722400-73729800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:73722400-73731600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:73722600-73728200	Strong transcription	HSMMtube	muscle
28	chr11:73722600-73729000	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:73722800-73728800	Strong transcription	Placenta	Placenta
30	chr11:73722800-73729000	Weak transcription	Colonic Mucosa	Colon
31	chr11:73723000-73728200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:73723000-73728600	Weak transcription	Psoas Muscle	Psoas
33	chr11:73723000-73729200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr11:73723200-73728400	Enhancers	K562	blood
35	chr11:73723200-73729200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:73723200-73729200	Weak transcription	NHLF	lung
37	chr11:73723400-73729200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:73723400-73729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:73723600-73728200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:73723600-73729000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:73723800-73728600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:73724000-73728800	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:73724200-73728600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:73724200-73729600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:73724400-73728800	Weak transcription	Brain Substantia Nigra	brain
46	chr11:73724800-73746800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:73725200-73736400	Weak transcription	NHEK	skin
48	chr11:73725400-73740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr11:73725800-73728600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:73726000-73728600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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