Variant report

Variant	rs6493944
Chromosome Location	chr15:57976523-57976524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1346120	0.92[ASN][1000 genomes]
rs1540397	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1540398	1.00[ASN][1000 genomes]
rs1559775	0.81[AFR][1000 genomes]
rs1593439	0.89[AFR][1000 genomes]
rs16953334	1.00[EUR][1000 genomes]
rs16977581	1.00[EUR][1000 genomes]
rs16977583	1.00[EUR][1000 genomes]
rs16977584	1.00[EUR][1000 genomes]
rs16977600	1.00[EUR][1000 genomes]
rs16977673	1.00[EUR][1000 genomes]
rs1834487	1.00[EUR][1000 genomes]
rs1946356	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1946357	1.00[EUR][1000 genomes]
rs2018558	0.81[AMR][1000 genomes]
rs2098891	1.00[EUR][1000 genomes]
rs2554031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733611	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28540249	1.00[EUR][1000 genomes]
rs28547400	1.00[EUR][1000 genomes]
rs28630067	1.00[EUR][1000 genomes]
rs28707698	1.00[EUR][1000 genomes]
rs2899603	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4564513	0.84[AFR][1000 genomes]
rs4774280	0.80[AMR][1000 genomes]
rs55769610	1.00[EUR][1000 genomes]
rs56091272	1.00[EUR][1000 genomes]
rs59333719	1.00[EUR][1000 genomes]
rs60234362	1.00[EUR][1000 genomes]
rs6493940	0.81[AMR][1000 genomes]
rs6493948	1.00[EUR][1000 genomes]
rs7174233	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7174359	1.00[EUR][1000 genomes]
rs7181645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73423555	1.00[EUR][1000 genomes]
rs73423558	1.00[EUR][1000 genomes]
rs73423560	1.00[EUR][1000 genomes]
rs73423562	1.00[EUR][1000 genomes]
rs73423566	1.00[EUR][1000 genomes]
rs73423591	1.00[EUR][1000 genomes]
rs74017953	1.00[EUR][1000 genomes]
rs74018224	1.00[EUR][1000 genomes]
rs8028953	1.00[EUR][1000 genomes]
rs933839	1.00[EUR][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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv530682	chr15:57912502-58108285	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57933400-57982600	Weak transcription	Esophagus	oesophagus
2	chr15:57959600-57982600	Weak transcription	Lung	lung
3	chr15:57960800-57985000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:57967800-57976800	Weak transcription	Pancreas	Pancrea
5	chr15:57968200-57976600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr15:57968200-57976800	Weak transcription	Fetal Kidney	kidney
7	chr15:57968200-57983600	Weak transcription	Gastric	stomach
8	chr15:57972800-57976800	Weak transcription	Aorta	Aorta
9	chr15:57972800-57977600	Weak transcription	Osteobl	bone
10	chr15:57972800-57978000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:57973000-57977200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr15:57973000-57977400	Weak transcription	NHDF-Ad	bronchial
13	chr15:57973000-57978000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:57973000-57984600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:57973200-57977200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:57973200-57977600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:57973200-57978000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:57973200-57978000	Weak transcription	Stomach Mucosa	stomach
19	chr15:57974400-57977800	Genic enhancers	Left Ventricle	heart
20	chr15:57975000-57976600	Weak transcription	Adipose Nuclei	Adipose
21	chr15:57975000-57976800	Enhancers	Stomach Smooth Muscle	stomach
22	chr15:57975200-57977000	Strong transcription	Fetal Intestine Small	intestine
23	chr15:57975400-57977200	Weak transcription	Fetal Intestine Large	intestine
24	chr15:57975600-57976600	Weak transcription	Right Ventricle	heart
25	chr15:57975600-57978000	Weak transcription	Spleen	Spleen
26	chr15:57975600-57982600	Weak transcription	Right Atrium	heart
27	chr15:57975600-57986600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:57975800-57986400	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:57976200-57976600	Weak transcription	Fetal Heart	heart

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