Variant report

Variant	rs11124734
Chromosome Location	chr2:40331887-40331888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1157960	1.00[CHB][hapmap]
rs17025057	1.00[CHB][hapmap]
rs2373790	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952446	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726967	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv873903	chr2:40285145-40382712	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40320000-40332200	Enhancers	HSMM	muscle
2	chr2:40320000-40332600	Enhancers	NHDF-Ad	bronchial
3	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
4	chr2:40322800-40350200	Weak transcription	Fetal Brain Male	brain
5	chr2:40323400-40332600	Enhancers	Osteobl	bone
6	chr2:40326000-40333600	Enhancers	Fetal Heart	heart
7	chr2:40326600-40333400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
9	chr2:40329000-40341400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:40329600-40332400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:40329600-40341400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:40329800-40332600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:40329800-40337400	Weak transcription	Left Ventricle	heart
14	chr2:40329800-40342400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:40329800-40345200	Weak transcription	Fetal Thymus	thymus
16	chr2:40330400-40332000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:40330600-40332400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:40330600-40333400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:40331000-40332600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:40331000-40332800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:40331000-40340800	Weak transcription	Dnd41	blood
22	chr2:40331200-40332200	Weak transcription	Aorta	Aorta
23	chr2:40331200-40332400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:40331200-40332400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:40331200-40332800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:40331200-40333200	Enhancers	NHLF	lung
27	chr2:40331200-40350200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:40331200-40351200	Weak transcription	Fetal Stomach	stomach
29	chr2:40331400-40332400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:40331400-40332600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:40331400-40332600	Weak transcription	HMEC	breast
32	chr2:40331400-40332600	Weak transcription	NHEK	skin
33	chr2:40331400-40334000	Weak transcription	Ovary	ovary
34	chr2:40331600-40332600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:40331600-40332600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:40331600-40332600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:40331600-40332600	Weak transcription	NH-A	brain
38	chr2:40331800-40332200	Weak transcription	HSMMtube	muscle

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