Variant report

Variant	rs11236507
Chromosome Location	chr11:75444605-75444606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75437719..75439941-chr11:75444285..75446896,2	K562	blood:
2	chr11:75434732..75436829-chr11:75444022..75446867,2	K562	blood:
3	chr11:75443297..75446374-chr11:75458769..75461045,3	MCF-7	breast:
4	chr11:75442509..75444846-chr11:75445963..75448004,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10160784	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs10160802	0.95[GIH][hapmap];0.92[MEX][hapmap]
rs1017713	0.93[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10219339	0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs10793124	1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.92[ASN][1000 genomes]
rs10793125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10793126	0.92[ASN][1000 genomes]
rs10793127	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10793132	0.86[CHB][hapmap]
rs10899105	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899109	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10899110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10899113	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10899116	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10899119	0.93[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10899120	0.80[ASN][1000 genomes]
rs10899121	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs10899122	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs10899123	0.93[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10899124	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs10899127	0.85[JPT][hapmap]
rs10899128	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs10899129	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs10899134	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10899136	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10899138	0.86[CHB][hapmap]
rs10899141	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10899145	0.86[CHB][hapmap]
rs11236508	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236509	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236511	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11236514	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11236515	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11236516	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11236517	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11236518	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11236519	0.84[ASN][1000 genomes]
rs11236527	0.84[ASN][1000 genomes]
rs11236528	0.84[ASN][1000 genomes]
rs11236530	0.93[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs11236531	0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap]
rs11236533	0.86[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs11236534	0.93[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs11236540	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11236546	0.86[CHB][hapmap]
rs11236552	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11236553	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11236554	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11236555	0.81[JPT][hapmap]
rs11821808	0.92[ASN][1000 genomes]
rs11822903	0.85[CHB][hapmap]
rs11823869	0.93[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs12222542	0.93[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs12222995	0.93[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs12278224	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12278257	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1458836	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs17134394	0.81[JPT][hapmap]
rs2008476	0.93[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[ASN][1000 genomes]
rs2168947	0.85[MEX][hapmap]
rs28802056	0.83[AMR][1000 genomes]
rs3060	0.85[MEX][hapmap]
rs36016715	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3740849	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs3740850	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs499974	0.80[ASN][1000 genomes]
rs531117	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs559355	0.80[ASN][1000 genomes]
rs58340821	0.80[ASN][1000 genomes]
rs58411334	0.84[ASN][1000 genomes]
rs600518	0.80[ASN][1000 genomes]
rs600626	0.80[ASN][1000 genomes]
rs60677263	0.80[ASN][1000 genomes]
rs643884	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs644361	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs6592615	0.86[CHB][hapmap]
rs7101806	0.86[CHB][hapmap]
rs7107742	0.81[JPT][hapmap]
rs7108178	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7118039	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7126727	0.86[JPT][hapmap]
rs72995678	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72997616	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7933235	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7944950	0.80[ASN][1000 genomes]
rs7947418	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7947512	0.80[ASN][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11236507	B3GNT6	cis	parietal	SCAN
rs11236507	SNORD15A	cis	cerebellum	SCAN
rs11236507	DGAT2	cis	Whole Blood	GTEx
rs11236507	RP11-535A19.1	cis	Whole Blood	GTEx
rs11236507	UCP3	cis	parietal	SCAN
rs11236507	SH3BP5	trans	parietal	SCAN
rs11236507	ARAP1	cis	parietal	SCAN
rs11236507	INPPL1	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75443200-75446000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:75443200-75446800	Enhancers	Liver	Liver
3	chr11:75443200-75448800	Enhancers	Fetal Intestine Large	intestine
4	chr11:75443400-75446800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:75443800-75445200	Enhancers	Stomach Mucosa	stomach
6	chr11:75443800-75446600	Enhancers	Lung	lung
7	chr11:75444000-75446000	Enhancers	Fetal Muscle Trunk	muscle
8	chr11:75444000-75446200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:75444000-75446800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:75444000-75446800	Enhancers	Right Ventricle	heart
11	chr11:75444000-75447000	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:75444200-75445000	Enhancers	Fetal Stomach	stomach
13	chr11:75444200-75445200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:75444200-75445200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:75444200-75445200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:75444200-75445800	Enhancers	HepG2	liver
17	chr11:75444200-75446400	Enhancers	Fetal Muscle Leg	muscle
18	chr11:75444200-75446600	Enhancers	Colonic Mucosa	Colon
19	chr11:75444200-75446800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:75444200-75447000	Enhancers	Adipose Nuclei	Adipose
21	chr11:75444200-75447000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:75444400-75444800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr11:75444400-75445000	Enhancers	Rectal Smooth Muscle	rectum
24	chr11:75444400-75445200	Enhancers	Brain Hippocampus Middle	brain
25	chr11:75444400-75445400	Enhancers	Colon Smooth Muscle	Colon
26	chr11:75444400-75446200	Enhancers	Stomach Smooth Muscle	stomach
27	chr11:75444400-75446800	Enhancers	Left Ventricle	heart
28	chr11:75444400-75446800	Enhancers	Right Atrium	heart
29	chr11:75444400-75447200	Enhancers	Fetal Heart	heart
30	chr11:75444600-75444800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:75444600-75444800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr11:75444600-75445000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:75444600-75445200	Enhancers	GM12878-XiMat	blood
34	chr11:75444600-75445600	Weak transcription	Gastric	stomach
35	chr11:75444600-75447400	Enhancers	Fetal Intestine Small	intestine

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