Variant report

Variant	rs1863600
Chromosome Location	chr15:44322405-44322406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10518994	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11631340	0.84[AFR][1000 genomes]
rs11854312	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11857696	0.81[ASN][1000 genomes]
rs12437804	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12591537	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12900237	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2042741	0.81[ASN][1000 genomes]
rs2114420	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2114421	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2412850	0.84[AFR][1000 genomes]
rs2412852	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2412855	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2706488	0.81[ASN][1000 genomes]
rs2957583	0.84[AFR][1000 genomes]
rs4419034	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4597286	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4924727	0.84[AFR][1000 genomes]
rs6493091	0.82[AMR][1000 genomes]
rs7168522	0.87[ASN][1000 genomes]
rs8035212	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs8038096	0.81[ASN][1000 genomes]
rs890465	0.84[ASN][1000 genomes]
rs958485	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44318800-44323000	Enhancers	Brain Substantia Nigra	brain
2	chr15:44319000-44323000	Enhancers	Brain Hippocampus Middle	brain
3	chr15:44319600-44322800	Enhancers	Brain Cingulate Gyrus	brain
4	chr15:44319600-44323000	Enhancers	HSMM	muscle
5	chr15:44320200-44323000	Enhancers	Fetal Heart	heart
6	chr15:44320200-44323400	Enhancers	HUVEC	blood vessel
7	chr15:44320400-44322600	Enhancers	Osteobl	bone
8	chr15:44320400-44323000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:44320400-44323000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:44320400-44323000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr15:44320400-44323000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:44320400-44323000	Enhancers	Brain Anterior Caudate	brain
13	chr15:44320400-44323000	Enhancers	HMEC	breast
14	chr15:44320400-44323000	Enhancers	HSMMtube	muscle
15	chr15:44320400-44323000	Enhancers	NHLF	lung
16	chr15:44320600-44322600	Enhancers	Brain Angular Gyrus	brain
17	chr15:44320600-44322800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:44320600-44323000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr15:44320600-44323000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:44320600-44323000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:44320600-44323000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:44320600-44323200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:44320600-44323400	Enhancers	NHDF-Ad	bronchial
24	chr15:44320800-44322600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:44320800-44323000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:44320800-44323000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:44320800-44323000	Enhancers	NHEK	skin
28	chr15:44320800-44323200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:44321000-44326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:44321200-44327000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:44321600-44323000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr15:44321800-44322800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr15:44321800-44323000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr15:44321800-44325800	Weak transcription	Hela-S3	cervix
35	chr15:44322000-44322600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr15:44322000-44326200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:44322200-44326000	Weak transcription	NH-A	brain
38	chr15:44322200-44326400	Weak transcription	Adipose Nuclei	Adipose
39	chr15:44322400-44322800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:44322400-44322800	Weak transcription	Brain Inferior Temporal Lobe	brain

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