Variant report

Variant	rs1002461
Chromosome Location	chr13:40089479-40089480
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17060174	1.00[EUR][1000 genomes]
rs17060332	1.00[EUR][1000 genomes]
rs73466901	1.00[EUR][1000 genomes]
rs9566449	1.00[EUR][1000 genomes]
rs9566450	1.00[EUR][1000 genomes]
rs9566454	1.00[EUR][1000 genomes]
rs9576829	1.00[EUR][1000 genomes]
rs9576830	1.00[EUR][1000 genomes]
rs9576831	1.00[EUR][1000 genomes]
rs9576833	1.00[EUR][1000 genomes]
rs9576834	1.00[EUR][1000 genomes]
rs9576835	1.00[EUR][1000 genomes]
rs9576836	1.00[EUR][1000 genomes]
rs9576837	1.00[EUR][1000 genomes]
rs9576840	1.00[EUR][1000 genomes]
rs9576842	1.00[EUR][1000 genomes]
rs9576843	1.00[EUR][1000 genomes]
rs9576854	1.00[EUR][1000 genomes]
rs9576861	1.00[EUR][1000 genomes]
rs9576862	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1049669	chr13:40081362-40095803	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	esv2761784	chr13:40086325-40100095	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40074200-40094400	Weak transcription	Adipose Nuclei	Adipose
2	chr13:40076400-40096000	Weak transcription	Lung	lung
3	chr13:40077600-40101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:40080000-40090400	Weak transcription	Psoas Muscle	Psoas
5	chr13:40081600-40089600	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:40081600-40090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:40081600-40096000	Weak transcription	Fetal Lung	lung
8	chr13:40081600-40096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:40084800-40089800	Weak transcription	Osteobl	bone
10	chr13:40085400-40090200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:40087200-40090200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:40087200-40090200	Weak transcription	Ovary	ovary
13	chr13:40087200-40090400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:40087400-40090000	Weak transcription	HMEC	breast
15	chr13:40087400-40090200	Weak transcription	NHEK	skin
16	chr13:40087400-40090400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:40088000-40090800	Enhancers	Left Ventricle	heart
18	chr13:40088000-40090800	Enhancers	Right Ventricle	heart
19	chr13:40088200-40090400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr13:40088200-40090600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:40088200-40091600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:40088400-40090600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:40088400-40090600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:40088400-40090600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:40088400-40091000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:40088400-40091000	Enhancers	Fetal Muscle Leg	muscle
27	chr13:40088400-40091000	Enhancers	Right Atrium	heart
28	chr13:40088400-40091600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:40088600-40090000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr13:40088600-40090800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr13:40088600-40090800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr13:40088600-40090800	Enhancers	Aorta	Aorta
33	chr13:40088600-40090800	Enhancers	HSMMtube	muscle
34	chr13:40088600-40091000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr13:40088800-40090800	Enhancers	Fetal Brain Female	brain
36	chr13:40089000-40089800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr13:40089000-40090400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr13:40089200-40089800	Enhancers	Brain Germinal Matrix	brain
39	chr13:40089200-40090000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:40089200-40090600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:40089200-40090800	Enhancers	Brain Substantia Nigra	brain
42	chr13:40089400-40089600	Enhancers	Brain Cingulate Gyrus	brain
43	chr13:40089400-40089600	Flanking Active TSS	Fetal Heart	heart
44	chr13:40089400-40090000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr13:40089400-40090600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:40089400-40090600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr13:40089400-40090600	Enhancers	NH-A	brain
48	chr13:40089400-40091200	Enhancers	Cortex derived primary cultured neurospheres	brain

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