Variant report

Variant	rs7103228
Chromosome Location	chr11:120580767-120580768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11217987	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs11217988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11217989	1.00[CEU][hapmap];0.86[GIH][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap]
rs12270261	0.81[CEU][hapmap]
rs12270409	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs12272864	0.81[CEU][hapmap]
rs12274300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12276408	0.80[CHB][hapmap]
rs12276440	0.90[CEU][hapmap]
rs12278795	0.81[CEU][hapmap]
rs12280296	0.81[CEU][hapmap]
rs12281464	0.91[CEU][hapmap];0.96[YRI][hapmap]
rs12291927	0.81[CEU][hapmap]
rs12293393	0.81[CEU][hapmap]
rs12294858	0.85[CEU][hapmap];0.96[YRI][hapmap]
rs12295113	0.81[CEU][hapmap]
rs12295200	0.81[CEU][hapmap]
rs17124211	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2846109	0.81[CEU][hapmap]
rs2852225	0.81[CEU][hapmap]
rs2852227	0.81[CEU][hapmap];0.80[MEX][hapmap]
rs4567478	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs7102869	0.81[CEU][hapmap]
rs7103418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7119619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7944756	0.91[CEU][hapmap]
rs9630199	0.90[CEU][hapmap];0.86[YRI][hapmap]
rs9630200	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054407	chr11:120535570-120630114	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3693392	chr11:120549745-120628012	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7103228	TMEM136	cis	cerebellum	SCAN
rs7103228	TAGLN	cis	parietal	SCAN
rs7103228	POU2F3	cis	parietal	SCAN
rs7103228	FXYD6	cis	parietal	SCAN
rs7103228	C2CD2L	cis	parietal	SCAN
rs7103228	MCAM	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120570000-120581600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:120578600-120581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120578800-120580800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:120578800-120581000	Weak transcription	Ovary	ovary
5	chr11:120579000-120581200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:120579000-120583000	Enhancers	Fetal Intestine Large	intestine
7	chr11:120579200-120585200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:120579400-120580800	Enhancers	HepG2	liver
9	chr11:120579600-120581000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:120579800-120581200	Weak transcription	Left Ventricle	heart
11	chr11:120579800-120581400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:120580000-120585800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:120580200-120581000	Weak transcription	Fetal Intestine Small	intestine
14	chr11:120580200-120583800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:120580400-120581000	Flanking Active TSS	GM12878-XiMat	blood
16	chr11:120580400-120581200	Enhancers	Adipose Nuclei	Adipose
17	chr11:120580400-120583000	Enhancers	Brain Hippocampus Middle	brain
18	chr11:120580400-120583000	Enhancers	Fetal Lung	lung
19	chr11:120580400-120583800	Enhancers	NHDF-Ad	bronchial
20	chr11:120580600-120581000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr11:120580600-120581000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:120580600-120581800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:120580600-120582200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:120580600-120582200	Enhancers	Brain Angular Gyrus	brain
25	chr11:120580600-120582200	Enhancers	Brain Anterior Caudate	brain
26	chr11:120580600-120582200	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:120580600-120582200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr11:120580600-120582600	Enhancers	NH-A	brain
29	chr11:120580600-120583000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:120580600-120583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:120580600-120583000	Enhancers	Osteobl	bone
32	chr11:120580600-120583200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:120580600-120583600	Enhancers	NHLF	lung

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