Variant report

Variant	rs2950620
Chromosome Location	chr15:44509500-44509501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10459588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11635948	0.87[ASN][1000 genomes]
rs12900880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12910886	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13379739	0.94[AMR][1000 genomes]
rs1426658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs16958670	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16958691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1820482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2252959	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2615279	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2696085	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2696086	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2696088	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2696091	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2696097	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2733239	0.87[ASN][1000 genomes]
rs28479591	0.91[ASN][1000 genomes]
rs28656778	0.91[ASN][1000 genomes]
rs28832708	0.91[ASN][1000 genomes]
rs2950619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2950622	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2952447	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4924728	0.95[ASN][1000 genomes]
rs57575746	0.87[ASN][1000 genomes]
rs58008065	0.91[ASN][1000 genomes]
rs58355014	0.82[AMR][1000 genomes]
rs58882193	0.91[ASN][1000 genomes]
rs60536495	0.80[ASN][1000 genomes]
rs6493094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6493096	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6493098	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7162529	0.95[ASN][1000 genomes]
rs7164866	0.86[ASW][hapmap]
rs7168522	1.00[MEX][hapmap]
rs7179696	0.95[ASN][1000 genomes]
rs8025863	0.86[ASW][hapmap]
rs8029187	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[ASN][1000 genomes]
rs8029425	0.95[ASN][1000 genomes]
rs8030309	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3351630	chr15:44334624-44547841	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv904173	chr15:44391572-44522214	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv904174	chr15:44391572-44538660	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv569298	chr15:44401266-44513090	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv904175	chr15:44403988-44538660	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv904176	chr15:44403988-44579854	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1843598	chr15:44417606-44526813	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
13	esv2754388	chr15:44479709-44592847	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv1044686	chr15:44489534-44697482	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1043822	chr15:44491220-44686957	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1035386	chr15:44498905-44677174	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44505800-44511600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:44506000-44511800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:44506000-44514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:44506200-44511400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:44506400-44511800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr15:44507000-44509600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:44507600-44509600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:44507600-44509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:44508000-44511400	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:44508200-44511200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:44508200-44511200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:44508200-44511200	Weak transcription	Brain Substantia Nigra	brain
13	chr15:44508200-44511200	Weak transcription	HSMM	muscle
14	chr15:44508200-44511400	Weak transcription	Brain Anterior Caudate	brain
15	chr15:44508200-44511400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:44508200-44511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:44508200-44511600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:44508200-44511600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:44508200-44511600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:44508200-44511600	Weak transcription	HSMMtube	muscle
21	chr15:44508600-44511200	Weak transcription	NH-A	brain
22	chr15:44508800-44516000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:44509000-44509600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr15:44509200-44509800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:44509200-44511600	Weak transcription	NHEK	skin
26	chr15:44509400-44509600	Bivalent Enhancer	K562	blood
27	chr15:44509400-44511400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:44509400-44511400	Weak transcription	HMEC	breast
29	chr15:44509400-44511600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:44509400-44511600	Weak transcription	HUVEC	blood vessel
31	chr15:44509400-44511800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:44509400-44511800	Weak transcription	NHDF-Ad	bronchial

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