Variant report

Variant	rs4630744
Chromosome Location	chr2:33461375-33461376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1065324	0.85[CEU][hapmap]
rs11124310	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12151817	0.86[ASN][1000 genomes]
rs12617970	0.85[CEU][hapmap]
rs13021881	0.80[EUR][1000 genomes]
rs1454378	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1454379	0.87[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs17566780	0.80[CEU][hapmap]
rs17567417	0.86[JPT][hapmap];0.80[TSI][hapmap]
rs17568051	0.89[CEU][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17641062	0.85[CEU][hapmap]
rs17641180	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs17641906	0.89[ASW][hapmap];0.89[CEU][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17642074	0.82[CEU][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1947444	0.81[CEU][hapmap]
rs2061027	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs2290448	0.82[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2367508	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2367509	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2367623	0.86[JPT][hapmap];0.80[TSI][hapmap]
rs4474865	0.81[CEU][hapmap]
rs4670778	0.85[CEU][hapmap]
rs4670928	0.85[CEU][hapmap]
rs4671010	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs4671024	0.81[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4671035	0.82[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56163907	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60000782	0.81[AMR][1000 genomes]
rs62146732	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62146734	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6543699	0.81[CEU][hapmap]
rs6705772	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs6715793	0.80[CEU][hapmap]
rs6750739	0.85[ASN][1000 genomes]
rs726429	0.84[CEU][hapmap]
rs7580348	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs7590965	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7608222	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7608535	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs996103	0.86[JPT][hapmap];0.80[TSI][hapmap]

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	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 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	chr2:33442600-33467600	Weak transcription	Ovary	ovary
3	chr2:33442800-33471400	Weak transcription	Psoas Muscle	Psoas
4	chr2:33447400-33468200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:33448400-33461400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:33449400-33461400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:33449400-33466200	Weak transcription	Fetal Heart	heart
8	chr2:33449400-33475400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:33450800-33461400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:33451800-33466200	Weak transcription	Left Ventricle	heart
11	chr2:33455800-33466800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:33455800-33470600	Weak transcription	Fetal Kidney	kidney
13	chr2:33456000-33461400	Weak transcription	NHDF-Ad	bronchial
14	chr2:33456200-33461400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:33456800-33463200	Weak transcription	Aorta	Aorta
16	chr2:33459600-33461600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:33461200-33462200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:33461200-33462800	Enhancers	Fetal Lung	lung
19	chr2:33461200-33463400	Enhancers	A549	lung
20	chr2:33461200-33463400	Enhancers	NH-A	brain
21	chr2:33461200-33463600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:33461200-33464000	Enhancers	NHEK	skin
23	chr2:33461200-33464200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:33461200-33464200	Enhancers	HMEC	breast
25	chr2:33461200-33464200	Enhancers	Osteobl	bone
26	chr2:33461200-33465600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:33461200-33468600	Enhancers	HUVEC	blood vessel

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