Variant report

Variant	rs11236774
Chromosome Location	chr11:76234953-76234954
allele	A/G
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	NR2F2	chr11:76234914-76235569	HepG2	liver:	n/a	n/a
2	FOXA2	chr11:76234870-76235637	HepG2	liver:	n/a	n/a
3	FOXA1	chr11:76234926-76235535	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76234875..76236984-chr11:76240108..76241970,2	K562	blood:
2	chr11:76231800..76233964-chr11:76234838..76236911,2	MCF-7	breast:

Variant related genes	Relation type
C11orf30	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 20 )

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

rs_ID	r²[population]
rs10751254	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10899226	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11236745	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap]
rs11236754	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11820030	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12271015	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12278256	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280236	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288653	1.00[EUR][1000 genomes]
rs12288707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12293666	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134872	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134897	1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2508754	1.00[EUR][1000 genomes]
rs2510905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2513506	1.00[EUR][1000 genomes]
rs2513507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513509	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2513519	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2513521	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3758780	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs4245444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4290257	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4603332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58576354	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592638	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592643	0.82[AFR][1000 genomes]
rs7105179	1.00[EUR][1000 genomes]
rs7123914	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7939908	1.00[EUR][1000 genomes]
rs7945459	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs11236774	SERPIND1	trans	brain	seeQTL
rs11236774	KIAA1199	trans	brain	seeQTL
rs11236774	OMD	trans	brain	seeQTL
rs11236774	NOV	trans	brain	seeQTL
rs11236774	C2orf40	trans	brain	seeQTL
rs11236774	FMOD	trans	brain	seeQTL
rs11236774	ANXA2	trans	brain	seeQTL
rs11236774	SULF1	trans	brain	seeQTL
rs11236774	CRABP1	trans	brain	seeQTL
rs11236774	SLC47A1	trans	brain	seeQTL
rs11236774	OGN	trans	brain	seeQTL
rs11236774	MFAP4	trans	brain	seeQTL
rs11236774	ENPP6	trans	brain	seeQTL
rs11236774	SLPI	trans	brain	seeQTL
rs11236774	OLFML2A	trans	brain	seeQTL
rs11236774	KLF4	trans	brain	seeQTL
rs11236774	PRG4	trans	brain	seeQTL
rs11236774	PCOLCE	trans	brain	seeQTL
rs11236774	DCN	trans	brain	seeQTL
rs11236774	FRZB	trans	brain	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76184400-76235000	Weak transcription	NHEK	skin
2	chr11:76191400-76239000	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:76192800-76242800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:76205200-76235800	Weak transcription	NHLF	lung
5	chr11:76205200-76254400	Weak transcription	Aorta	Aorta
6	chr11:76205400-76235800	Weak transcription	Lung	lung
7	chr11:76205400-76240000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:76205400-76254600	Weak transcription	Right Ventricle	heart
9	chr11:76205400-76255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:76205600-76239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:76205800-76235800	Weak transcription	Esophagus	oesophagus
12	chr11:76206000-76249200	Weak transcription	Colonic Mucosa	Colon
13	chr11:76207400-76239400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:76207400-76240000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:76207400-76254400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:76207600-76239400	Weak transcription	Brain Angular Gyrus	brain
17	chr11:76208000-76235200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:76212000-76235200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:76212000-76235400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:76212800-76235000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:76213000-76237200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:76213000-76254200	Weak transcription	Fetal Heart	heart
23	chr11:76213200-76235200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:76220000-76255600	Weak transcription	Small Intestine	intestine
25	chr11:76221800-76235600	Weak transcription	Gastric	stomach
26	chr11:76221800-76235800	Weak transcription	Pancreas	Pancrea
27	chr11:76222200-76252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:76222600-76249200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:76224200-76235200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:76224200-76239000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:76224200-76254600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:76224400-76236000	Weak transcription	Spleen	Spleen
33	chr11:76224400-76262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:76224400-76263800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:76224800-76251200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:76225400-76253200	Weak transcription	HSMMtube	muscle
37	chr11:76226800-76235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:76227000-76236000	Weak transcription	A549	lung
39	chr11:76229000-76235200	Weak transcription	Hela-S3	cervix
40	chr11:76229000-76235200	Weak transcription	NH-A	brain
41	chr11:76229000-76235600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:76229000-76239800	Weak transcription	HUVEC	blood vessel
43	chr11:76229600-76238200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:76230000-76265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:76231000-76235000	Weak transcription	Stomach Mucosa	stomach
46	chr11:76231000-76235200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:76232200-76235200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:76232200-76235400	Weak transcription	Osteobl	bone
49	chr11:76232200-76236000	Weak transcription	NHDF-Ad	bronchial
50	chr11:76232400-76235200	Weak transcription	HMEC	breast

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