Variant report

Variant	rs13072780
Chromosome Location	chr3:133290960-133290961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10049041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051772	0.86[MEX][hapmap];0.86[TSI][hapmap]
rs11919027	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923695	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928864	0.86[MEX][hapmap];0.86[TSI][hapmap]
rs12695595	0.82[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13072634	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13096215	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13318046	0.92[ASN][1000 genomes]
rs13321896	0.92[ASN][1000 genomes]
rs1348574	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1382700	0.82[JPT][hapmap]
rs2099985	0.83[EUR][1000 genomes]
rs34062652	0.92[ASN][1000 genomes]
rs34672862	0.83[EUR][1000 genomes]
rs34844086	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35824665	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55633281	0.80[EUR][1000 genomes]
rs57447001	0.84[EUR][1000 genomes]
rs60695717	0.82[EUR][1000 genomes]
rs6774104	0.88[EUR][1000 genomes]
rs6779063	0.90[EUR][1000 genomes]
rs67852078	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6798570	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs71317412	0.92[ASN][1000 genomes]
rs71317413	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71317414	0.92[ASN][1000 genomes]
rs71317417	0.93[EUR][1000 genomes]
rs9810823	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs9818377	0.83[EUR][1000 genomes]
rs9820344	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9824964	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827019	0.88[EUR][1000 genomes]
rs9830529	0.92[ASN][1000 genomes]
rs9836356	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9841141	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9847690	0.83[EUR][1000 genomes]
rs9850362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9852403	0.83[EUR][1000 genomes]
rs9857351	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865536	0.88[EUR][1000 genomes]
rs9871504	0.93[EUR][1000 genomes]
rs9881110	0.93[EUR][1000 genomes]

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	esv1817019	chr3:133290960-133293461	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
2	nsv591821	chr3:133290960-133293591	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133285000-133291600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:133286600-133291800	Enhancers	HMEC	breast
3	chr3:133286800-133291600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:133287000-133291800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:133287000-133291800	Enhancers	HSMMtube	muscle
6	chr3:133287400-133291000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:133287400-133291200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:133287400-133291600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:133287600-133291000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:133287600-133291000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:133287800-133291200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr3:133287800-133291400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:133287800-133291600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:133288000-133291000	Weak transcription	Spleen	Spleen
15	chr3:133288000-133291400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:133288000-133291600	Enhancers	Osteobl	bone
17	chr3:133288000-133292400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:133288600-133291000	Enhancers	Primary B cells from cord blood	blood
19	chr3:133289000-133291400	Weak transcription	Adipose Nuclei	Adipose
20	chr3:133289200-133291200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:133289200-133291400	Weak transcription	Fetal Lung	lung
22	chr3:133289200-133291600	Enhancers	HUVEC	blood vessel
23	chr3:133289400-133291000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:133289400-133291000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:133289400-133291200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:133289400-133291200	Weak transcription	Fetal Heart	heart
27	chr3:133289400-133291400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:133289400-133291400	Weak transcription	Fetal Intestine Small	intestine
29	chr3:133289400-133291400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:133289400-133291600	Weak transcription	Right Atrium	heart
31	chr3:133289400-133292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:133289600-133291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:133289600-133291400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:133289600-133291400	Enhancers	NH-A	brain
35	chr3:133289600-133291600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:133289600-133291600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:133289600-133291600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:133289600-133291600	Weak transcription	Fetal Intestine Large	intestine
39	chr3:133289600-133291600	Weak transcription	Psoas Muscle	Psoas
40	chr3:133289600-133292400	Weak transcription	Esophagus	oesophagus
41	chr3:133289600-133292400	Weak transcription	Lung	lung
42	chr3:133289800-133291000	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:133289800-133291400	Enhancers	K562	blood
44	chr3:133289800-133291800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:133289800-133292400	Weak transcription	Small Intestine	intestine
46	chr3:133289800-133293200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr3:133290000-133291000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:133290000-133291200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:133290000-133291200	Weak transcription	Stomach Mucosa	stomach
50	chr3:133290000-133291200	Weak transcription	Hela-S3	cervix

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