Variant report

Variant	rs4012801
Chromosome Location	chr10:49683217-49683218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10745275	1.00[EUR][1000 genomes]
rs10776604	1.00[EUR][1000 genomes]
rs10776605	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10857569	1.00[CEU][hapmap]
rs10857570	1.00[CEU][hapmap]
rs11101337	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1814473	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1822860	1.00[EUR][1000 genomes]
rs1867574	1.00[EUR][1000 genomes]
rs1867575	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1881739	1.00[CEU][hapmap]
rs1919705	1.00[CEU][hapmap]
rs1978998	1.00[CEU][hapmap]
rs2590388	1.00[CEU][hapmap]
rs2698760	1.00[CEU][hapmap]
rs2698769	1.00[CEU][hapmap]
rs3867448	1.00[EUR][1000 genomes]
rs3867450	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4012794	1.00[EUR][1000 genomes]
rs4012795	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4141840	1.00[CEU][hapmap]
rs4838599	1.00[EUR][1000 genomes]
rs7085678	1.00[CEU][hapmap]
rs74130282	1.00[EUR][1000 genomes]
rs7478027	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
2	chr10:49678200-49687200	Weak transcription	HSMMtube	muscle
3	chr10:49678400-49683800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr10:49678800-49684000	Weak transcription	Placenta	Placenta
5	chr10:49678800-49684200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:49678800-49684200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr10:49678800-49684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:49678800-49684200	Weak transcription	Right Atrium	heart
9	chr10:49679000-49683800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:49679000-49683800	Weak transcription	Fetal Stomach	stomach
11	chr10:49679000-49684200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:49679000-49684400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr10:49679200-49690400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:49679400-49684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:49679400-49686200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:49679600-49683800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr10:49679600-49684000	Weak transcription	Ovary	ovary
18	chr10:49679600-49685400	Weak transcription	Brain Angular Gyrus	brain
19	chr10:49679800-49683400	Weak transcription	Brain Substantia Nigra	brain
20	chr10:49679800-49683400	Weak transcription	NHLF	lung
21	chr10:49679800-49684000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:49679800-49684000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr10:49679800-49684200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:49679800-49684200	Weak transcription	Fetal Thymus	thymus
25	chr10:49679800-49684600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:49679800-49686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:49679800-49689000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr10:49679800-49704200	Weak transcription	NH-A	brain
29	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
30	chr10:49680000-49684200	Weak transcription	Esophagus	oesophagus
31	chr10:49680000-49684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:49680200-49684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:49680200-49684600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:49680400-49684600	Weak transcription	NHEK	skin
35	chr10:49680800-49684000	Weak transcription	HMEC	breast
36	chr10:49681000-49684200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:49681200-49689200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr10:49681400-49683800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:49681600-49684000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr10:49681800-49684600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:49682000-49683400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:49682200-49684000	Weak transcription	Osteobl	bone
43	chr10:49682600-49684600	Weak transcription	HSMM	muscle
44	chr10:49682800-49685400	Enhancers	Primary hematopoietic stem cells	blood
45	chr10:49683000-49683400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:49683000-49683400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:49683000-49686200	Enhancers	K562	blood
48	chr10:49683200-49683400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:49683200-49684200	Weak transcription	HUVEC	blood vessel
50	chr10:49683200-49687600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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