Variant report

Variant	rs12593511
Chromosome Location	chr15:42849956-42849957
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12102204	1.00[EUR][1000 genomes]
rs12911561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1871156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2244773	1.00[EUR][1000 genomes]
rs2289293	1.00[EUR][1000 genomes]
rs2412716	1.00[EUR][1000 genomes]
rs2595935	1.00[EUR][1000 genomes]
rs28364379	1.00[EUR][1000 genomes]
rs28364398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364462	1.00[EUR][1000 genomes]
rs28364472	1.00[EUR][1000 genomes]
rs28364491	1.00[EUR][1000 genomes]
rs28364495	1.00[EUR][1000 genomes]
rs28364498	1.00[EUR][1000 genomes]
rs28364500	1.00[EUR][1000 genomes]
rs28364503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364504	1.00[EUR][1000 genomes]
rs28364507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364509	1.00[EUR][1000 genomes]
rs28364511	1.00[EUR][1000 genomes]
rs28364519	1.00[EUR][1000 genomes]
rs28364522	1.00[EUR][1000 genomes]
rs28364523	1.00[EUR][1000 genomes]
rs28364524	1.00[EUR][1000 genomes]
rs28364526	1.00[EUR][1000 genomes]
rs28364540	1.00[EUR][1000 genomes]
rs28364541	1.00[EUR][1000 genomes]
rs28364544	1.00[EUR][1000 genomes]
rs28364557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28489155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28745879	1.00[EUR][1000 genomes]
rs2899058	1.00[EUR][1000 genomes]
rs3743002	1.00[EUR][1000 genomes]
rs3803342	1.00[EUR][1000 genomes]
rs6493047	1.00[EUR][1000 genomes]
rs6493051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7164196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7178396	1.00[EUR][1000 genomes]
rs7181940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183399	1.00[EUR][1000 genomes]
rs8036149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036993	1.00[EUR][1000 genomes]
rs8042603	1.00[EUR][1000 genomes]
rs8043033	1.00[EUR][1000 genomes]
rs9920851	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42841600-42850800	Weak transcription	Pancreas	Pancrea
2	chr15:42841600-42851000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:42841600-42851200	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:42841600-42851600	Weak transcription	Lung	lung
5	chr15:42841600-42852000	Weak transcription	Gastric	stomach
6	chr15:42841600-42853600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:42841600-42854200	Weak transcription	Aorta	Aorta
8	chr15:42841600-42854200	Weak transcription	Esophagus	oesophagus
9	chr15:42841600-42854200	Weak transcription	Spleen	Spleen
10	chr15:42841600-42866800	Weak transcription	Stomach Mucosa	stomach
11	chr15:42841800-42850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:42841800-42857000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:42841800-42867000	Weak transcription	Ovary	ovary
14	chr15:42842200-42850200	Weak transcription	Primary T cells from cord blood	blood
15	chr15:42842200-42850400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:42842200-42850800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:42842200-42851000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:42842200-42851400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr15:42842200-42853000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:42842200-42854200	Weak transcription	Right Ventricle	heart
21	chr15:42842200-42856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:42842200-42867000	Weak transcription	Psoas Muscle	Psoas
23	chr15:42842400-42850400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:42842400-42850400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:42842400-42850600	Weak transcription	Fetal Intestine Small	intestine
26	chr15:42842400-42850800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr15:42842400-42850800	Weak transcription	HMEC	breast
28	chr15:42842400-42851000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:42842400-42851000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:42842400-42851000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:42842400-42851000	Weak transcription	Liver	Liver
32	chr15:42842400-42851000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:42842400-42851200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:42842400-42851400	Weak transcription	Placenta	Placenta
35	chr15:42842400-42851400	Weak transcription	Left Ventricle	heart
36	chr15:42842400-42851400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:42842400-42851400	Weak transcription	HSMMtube	muscle
38	chr15:42842400-42851600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:42842400-42851600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr15:42842400-42851600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr15:42842400-42851600	Weak transcription	NH-A	brain
42	chr15:42842400-42852000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:42842400-42853400	Weak transcription	HSMM	muscle
44	chr15:42842400-42854600	Weak transcription	A549	lung
45	chr15:42842400-42867000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:42842600-42850200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:42842600-42850200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:42842600-42850600	Weak transcription	Thymus	Thymus
49	chr15:42842600-42850800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:42842600-42850800	Weak transcription	Adipose Nuclei	Adipose

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