Variant report

Variant	rs3731575
Chromosome Location	chr2:33477964-33477965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11903480	0.81[CEU][hapmap]
rs12468099	0.81[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.88[TSI][hapmap];0.85[ASN][1000 genomes]
rs13034772	0.82[ASN][1000 genomes]
rs1453845	0.94[MEX][hapmap]
rs17581939	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2123769	0.92[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs3769531	0.86[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.90[ASN][1000 genomes]
rs3769535	0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3816479	0.92[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3820913	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs6756709	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs870858	0.92[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:33466800-33491200	Weak transcription	Right Ventricle	heart
5	chr2:33468200-33491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:33469800-33486200	Weak transcription	NHDF-Ad	bronchial
7	chr2:33470400-33479400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:33471200-33480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:33471800-33491200	Weak transcription	Pancreas	Pancrea
10	chr2:33472000-33478000	Weak transcription	Liver	Liver
11	chr2:33472000-33489800	Weak transcription	A549	lung
12	chr2:33472000-33491200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
14	chr2:33472400-33491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:33472600-33492800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:33473200-33486600	Weak transcription	Fetal Lung	lung
17	chr2:33473600-33489800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:33473800-33484000	Strong transcription	Osteobl	bone
19	chr2:33474000-33491000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:33474200-33491200	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:33474400-33478200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:33474400-33489800	Weak transcription	Placenta	Placenta
23	chr2:33474400-33490000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:33474800-33479000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:33475200-33478600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:33475400-33478800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:33475600-33478000	Strong transcription	Aorta	Aorta
28	chr2:33475600-33478800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:33475600-33479000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr2:33475600-33482400	Weak transcription	Fetal Heart	heart
31	chr2:33476000-33479600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:33476200-33490000	Weak transcription	Esophagus	oesophagus
33	chr2:33476200-33490000	Weak transcription	Fetal Intestine Small	intestine
34	chr2:33476200-33491000	Weak transcription	Gastric	stomach
35	chr2:33476400-33478000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:33476400-33487000	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:33476400-33487400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:33476400-33488200	Weak transcription	Ovary	ovary
39	chr2:33476600-33482400	Weak transcription	Left Ventricle	heart
40	chr2:33476600-33488400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:33476800-33478200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:33477000-33479000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr2:33477200-33478800	Strong transcription	NH-A	brain
44	chr2:33477400-33491000	Weak transcription	Fetal Stomach	stomach
45	chr2:33477600-33489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:33477800-33478000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:33477800-33478000	ZNF genes & repeats	Lung	lung
48	chr2:33477800-33478800	Strong transcription	NHLF	lung

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