Variant report

Variant	rs11099681
Chromosome Location	chr4:149103454-149103455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11099680	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103165	0.84[ASN][1000 genomes]
rs2272089	0.83[CEU][hapmap];0.83[MEX][hapmap]
rs2356393	0.80[ASN][1000 genomes]
rs3843410	0.86[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3843411	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3843413	0.84[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs3857079	0.83[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs3910052	0.84[CEU][hapmap];0.80[CHB][hapmap];0.82[GIH][hapmap]
rs3910053	0.80[ASN][1000 genomes]
rs3910054	0.80[CHB][hapmap];0.85[GIH][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs3910057	1.00[YRI][hapmap]
rs4122852	0.83[ASN][1000 genomes]
rs4835491	0.86[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4835493	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4835495	0.85[ASN][1000 genomes]
rs4835496	0.81[ASN][1000 genomes]
rs4835503	0.84[CEU][hapmap];0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs4835504	0.80[CEU][hapmap];0.80[CHB][hapmap];0.80[ASN][1000 genomes]
rs4835505	0.80[ASN][1000 genomes]
rs4835506	0.92[CHB][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs6535589	0.84[ASN][1000 genomes]
rs6535590	0.84[CEU][hapmap];0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs6535593	0.84[CEU][hapmap];0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs6535594	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs6828665	0.84[CEU][hapmap];0.87[CHB][hapmap];0.85[GIH][hapmap]
rs6844155	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs6846591	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs7670108	0.80[ASN][1000 genomes]
rs7673644	0.84[CEU][hapmap];0.80[CHB][hapmap];0.85[GIH][hapmap]
rs7694064	0.83[CEU][hapmap]
rs7694200	0.83[MEX][hapmap]
rs7694706	0.81[CEU][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	nsv1032794	chr4:149046598-149135489	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537295	chr4:149046598-149135489	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11099681	MMAA	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149045600-149104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:149084000-149106200	Weak transcription	Lung	lung
3	chr4:149087600-149123400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:149088000-149113200	Weak transcription	Adipose Nuclei	Adipose
5	chr4:149088000-149113600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:149088400-149113000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:149088400-149122800	Weak transcription	Brain Angular Gyrus	brain
8	chr4:149092400-149113400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:149094400-149113200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:149094800-149113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:149094800-149124600	Weak transcription	Aorta	Aorta
12	chr4:149095200-149113600	Weak transcription	Pancreas	Pancrea
13	chr4:149096600-149104800	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:149099000-149116600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:149099200-149123600	Weak transcription	Brain Anterior Caudate	brain
16	chr4:149101200-149104000	Enhancers	Fetal Intestine Large	intestine
17	chr4:149102000-149104000	Enhancers	Fetal Intestine Small	intestine
18	chr4:149102200-149103800	Enhancers	Fetal Heart	heart
19	chr4:149102200-149113400	Weak transcription	Gastric	stomach
20	chr4:149102200-149113400	Weak transcription	Right Ventricle	heart
21	chr4:149102400-149114000	Weak transcription	Ovary	ovary
22	chr4:149102600-149103800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:149102600-149113200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:149103000-149103800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:149103000-149114200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:149103200-149103600	Active TSS	Liver	Liver
27	chr4:149103200-149113200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:149103400-149104000	Enhancers	Duodenum Mucosa	Duodenum
29	chr4:149103400-149123200	Weak transcription	Small Intestine	intestine

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