Variant report

Variant	rs2706493
Chromosome Location	chr15:44400648-44400649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44391833..44394389-chr15:44398230..44401286,3	K562	blood:
2	chr15:44384733..44389004-chr15:44397743..44401359,3	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10518994	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1160066	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11631340	0.81[AMR][1000 genomes]
rs11854312	0.81[AMR][1000 genomes]
rs11857696	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12437804	0.81[AMR][1000 genomes]
rs12591537	0.81[AMR][1000 genomes]
rs12908345	0.85[ASN][1000 genomes]
rs13379739	0.83[ASN][1000 genomes]
rs1365457	0.86[ASN][1000 genomes]
rs1426657	0.91[ASN][1000 genomes]
rs1807974	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1808509	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1820485	0.91[ASN][1000 genomes]
rs2015277	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2019074	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2042738	0.91[ASN][1000 genomes]
rs2042739	0.91[ASN][1000 genomes]
rs2042741	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2059626	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2059628	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2114415	0.80[ASN][1000 genomes]
rs2114420	0.81[AMR][1000 genomes]
rs2114421	0.81[AMR][1000 genomes]
rs2114422	0.91[ASN][1000 genomes]
rs2412850	0.81[AMR][1000 genomes]
rs2412852	0.81[AMR][1000 genomes]
rs2412855	0.81[AMR][1000 genomes]
rs2555366	0.91[ASN][1000 genomes]
rs2555368	0.91[ASN][1000 genomes]
rs2555382	0.89[ASN][1000 genomes]
rs2555384	0.91[ASN][1000 genomes]
rs2555385	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2555387	0.83[ASN][1000 genomes]
rs2615269	0.89[ASN][1000 genomes]
rs2615271	0.84[ASN][1000 genomes]
rs2615278	0.82[ASN][1000 genomes]
rs2615280	0.91[ASN][1000 genomes]
rs2615281	0.83[ASN][1000 genomes]
rs2615285	0.91[ASN][1000 genomes]
rs2615286	0.91[ASN][1000 genomes]
rs2615287	0.91[ASN][1000 genomes]
rs2615288	0.91[ASN][1000 genomes]
rs2615290	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2615291	0.91[ASN][1000 genomes]
rs2615292	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2615295	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2623019	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2706472	0.91[ASN][1000 genomes]
rs2706473	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2706474	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2706481	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2706486	0.91[ASN][1000 genomes]
rs2706488	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2706490	0.91[ASN][1000 genomes]
rs2706491	0.89[ASN][1000 genomes]
rs2706492	0.91[ASN][1000 genomes]
rs2733203	0.91[ASN][1000 genomes]
rs2733204	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2733208	0.89[ASN][1000 genomes]
rs2733210	0.83[ASN][1000 genomes]
rs2733226	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2957581	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2957583	0.81[AMR][1000 genomes]
rs4419034	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4924727	0.81[AMR][1000 genomes]
rs7166715	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8030309	0.83[ASN][1000 genomes]
rs8035212	0.81[AMR][1000 genomes]
rs8038096	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8039970	0.91[ASN][1000 genomes]
rs8042697	0.91[ASN][1000 genomes]
rs8042916	0.82[ASN][1000 genomes]
rs890465	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs958485	0.81[AMR][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	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	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1045362	chr15:44280481-44414443	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv832989	chr15:44306469-44461710	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44381800-44400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:44395000-44408000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:44396000-44408400	Weak transcription	HSMMtube	muscle
4	chr15:44396200-44402400	Weak transcription	Brain Angular Gyrus	brain
5	chr15:44396200-44413000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:44396400-44409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:44397800-44401000	Enhancers	Brain Hippocampus Middle	brain
8	chr15:44398800-44402600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:44399200-44402600	Weak transcription	Brain Substantia Nigra	brain
10	chr15:44399400-44400800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:44399600-44406400	Weak transcription	Brain Anterior Caudate	brain
12	chr15:44399800-44402400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:44400000-44402400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:44400200-44403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:44400200-44405200	Weak transcription	Fetal Heart	heart
16	chr15:44400200-44407800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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