Variant report

Variant	rs1463313
Chromosome Location	chr2:33532820-33532821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10170578	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10495786	0.81[GIH][hapmap]
rs12987969	0.88[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1453842	0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1463311	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1463312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1823834	1.00[ASW][hapmap];0.80[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2123770	0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];0.94[LWK][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2276591	0.81[CHB][hapmap]
rs2887067	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769541	0.85[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7572682	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs817530	1.00[ASW][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs817531	0.81[CHB][hapmap];0.86[CHD][hapmap];0.90[MEX][hapmap]
rs817533	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
3	chr2:33517200-33533000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:33517200-33533200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:33517200-33537400	Weak transcription	Fetal Brain Male	brain
6	chr2:33517200-33545000	Weak transcription	Fetal Kidney	kidney
7	chr2:33517200-33545800	Weak transcription	Fetal Lung	lung
8	chr2:33517200-33546400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:33517800-33543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:33523400-33545200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:33523600-33546200	Weak transcription	K562	blood
12	chr2:33523800-33536400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:33524200-33546600	Weak transcription	Small Intestine	intestine
15	chr2:33524600-33535800	Strong transcription	Osteobl	bone
16	chr2:33524600-33537600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:33524800-33533400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:33525000-33537600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:33527400-33536800	Weak transcription	NHDF-Ad	bronchial
20	chr2:33527600-33537800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:33527800-33540000	Weak transcription	Placenta	Placenta
22	chr2:33529000-33538400	Weak transcription	Aorta	Aorta
23	chr2:33529000-33538400	Weak transcription	Ovary	ovary
24	chr2:33529000-33541400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:33529600-33546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:33529800-33533000	Weak transcription	NH-A	brain
27	chr2:33529800-33537000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:33529800-33538200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:33529800-33539000	Weak transcription	Fetal Stomach	stomach
30	chr2:33529800-33540200	Weak transcription	Left Ventricle	heart
31	chr2:33529800-33546600	Weak transcription	Psoas Muscle	Psoas
32	chr2:33529800-33561000	Weak transcription	HUVEC	blood vessel
33	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
34	chr2:33530000-33534400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:33530000-33536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:33530000-33539400	Weak transcription	Fetal Heart	heart
37	chr2:33530000-33543000	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:33530800-33538400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:33531000-33534800	Weak transcription	NHLF	lung
40	chr2:33531000-33537000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:33531600-33538400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:33531800-33540400	Weak transcription	Liver	Liver
43	chr2:33532200-33540000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:33532600-33533000	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr2:33532600-33533400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:33532800-33533200	Enhancers	Brain Anterior Caudate	brain
47	chr2:33532800-33533200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr2:33532800-33533200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr2:33532800-33535400	Weak transcription	Stomach Smooth Muscle	stomach

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