Variant report

Variant	rs12593068
Chromosome Location	chr15:49714317-49714318
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10519227	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12591134	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12591799	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12592177	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12592296	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12593119	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12594154	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12594827	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12595497	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12898461	1.00[YRI][hapmap]
rs12898877	1.00[YRI][hapmap]
rs12903992	1.00[YRI][hapmap]
rs12916078	1.00[YRI][hapmap]
rs16962418	1.00[YRI][hapmap]
rs16962419	1.00[YRI][hapmap]
rs17477923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3809495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4338740	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7168316	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7176697	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833002	chr15:49621400-49781799	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49708400-49714400	Weak transcription	HUVEC	blood vessel
2	chr15:49709800-49715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:49714000-49714400	Enhancers	Osteobl	bone
4	chr15:49714000-49714600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:49714000-49714600	Enhancers	Brain Cingulate Gyrus	brain
6	chr15:49714000-49714600	Active TSS	Brain Hippocampus Middle	brain
7	chr15:49714000-49714800	Active TSS	Brain Substantia Nigra	brain
8	chr15:49714000-49715000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:49714000-49715000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr15:49714000-49715400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr15:49714000-49715600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr15:49714000-49715800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr15:49714000-49715800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr15:49714000-49720400	Active TSS	Ovary	ovary
15	chr15:49714000-49720800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr15:49714000-49721000	Active TSS	Colon Smooth Muscle	Colon
17	chr15:49714000-49722600	Active TSS	Stomach Smooth Muscle	stomach
18	chr15:49714200-49714600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr15:49714200-49714600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:49714200-49714600	Active TSS	Aorta	Aorta
21	chr15:49714200-49714600	Active TSS	Liver	Liver
22	chr15:49714200-49714600	Enhancers	Fetal Brain Male	brain
23	chr15:49714200-49714600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr15:49714200-49714600	Active TSS	Fetal Lung	lung
25	chr15:49714200-49714600	Enhancers	Fetal Muscle Leg	muscle
26	chr15:49714200-49714600	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr15:49714200-49714600	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr15:49714200-49714600	Active TSS	Dnd41	blood
29	chr15:49714200-49715200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:49714200-49715200	Enhancers	Fetal Heart	heart
31	chr15:49714200-49716400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:49714200-49716800	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr15:49714200-49718600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:49714200-49719400	Active TSS	Fetal Kidney	kidney
35	chr15:49714200-49721000	Active TSS	Rectal Smooth Muscle	rectum
36	chr15:49714200-49721000	Active TSS	Right Atrium	heart
37	chr15:49714200-49721400	Active TSS	Adipose Nuclei	Adipose

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