Variant report

Variant	rs11891800
Chromosome Location	chr2:40513714-40513715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1002671	0.97[GIH][hapmap]
rs10490053	0.97[GIH][hapmap]
rs11902975	1.00[CEU][hapmap];0.95[GIH][hapmap];0.80[TSI][hapmap]
rs12995402	0.95[GIH][hapmap]
rs13001457	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs13001473	0.94[CEU][hapmap]
rs13005761	0.90[CEU][hapmap];0.92[GIH][hapmap];0.83[TSI][hapmap]
rs13026979	0.91[EUR][1000 genomes]
rs17025769	0.91[EUR][1000 genomes]
rs17025783	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17025800	1.00[CEU][hapmap]
rs1990607	0.82[EUR][1000 genomes]
rs2192769	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2192771	1.00[CEU][hapmap];0.90[GIH][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs2287051	0.95[CEU][hapmap]
rs34609846	0.92[EUR][1000 genomes]
rs4952403	0.82[EUR][1000 genomes]
rs4952603	0.95[CEU][hapmap];0.95[GIH][hapmap];0.82[EUR][1000 genomes]
rs4952604	0.95[CEU][hapmap]
rs4952605	0.95[CEU][hapmap]
rs4952607	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs4952609	0.95[CEU][hapmap];0.85[TSI][hapmap]
rs56707698	0.81[EUR][1000 genomes]
rs62150809	0.81[EUR][1000 genomes]
rs6730154	1.00[CEU][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]
rs727477	0.90[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs72796683	0.81[EUR][1000 genomes]
rs72796684	0.82[EUR][1000 genomes]
rs741287	0.95[CEU][hapmap]
rs994419	1.00[GIH][hapmap];0.85[TSI][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40500200-40514600	Weak transcription	Fetal Brain Male	brain
2	chr2:40503600-40514800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:40506400-40516800	Weak transcription	Small Intestine	intestine
4	chr2:40506600-40514600	Weak transcription	Brain Germinal Matrix	brain
5	chr2:40506800-40517200	Weak transcription	Dnd41	blood
6	chr2:40508000-40517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:40509000-40514800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:40509000-40519400	Weak transcription	Fetal Stomach	stomach
9	chr2:40509200-40517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:40510200-40513800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:40510200-40514000	Weak transcription	NH-A	brain
12	chr2:40510200-40514200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:40510200-40514800	Weak transcription	Right Atrium	heart
14	chr2:40510600-40514800	Genic enhancers	Fetal Heart	heart
15	chr2:40510800-40513800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:40511000-40513800	Weak transcription	NHEK	skin
17	chr2:40511000-40514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:40511000-40514000	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:40511000-40514000	Weak transcription	NHLF	lung
20	chr2:40511000-40514600	Weak transcription	Aorta	Aorta
21	chr2:40511000-40514800	Weak transcription	Right Ventricle	heart
22	chr2:40511200-40513800	Weak transcription	Left Ventricle	heart
23	chr2:40511200-40514600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:40511800-40515400	Enhancers	Colon Smooth Muscle	Colon
25	chr2:40512000-40514800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:40512000-40515200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:40512000-40515200	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:40512200-40513800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:40512400-40526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:40512600-40513800	Weak transcription	HSMMtube	muscle
31	chr2:40512600-40514200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:40512800-40514000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:40512800-40514200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:40512800-40514200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:40512800-40514200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:40512800-40519400	Weak transcription	HSMM	muscle
37	chr2:40512800-40530000	Weak transcription	NHDF-Ad	bronchial
38	chr2:40513000-40513800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:40513000-40514000	Weak transcription	Osteobl	bone

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