Variant report

Variant	rs9568240
Chromosome Location	chr13:50106561-50106562
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12429350	0.89[CEU][hapmap]
rs17381926	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.89[ASN][1000 genomes]
rs73190705	0.89[ASN][1000 genomes]
rs7331182	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9562880	0.84[JPT][hapmap]
rs9562881	0.83[CHD][hapmap];0.84[JPT][hapmap];0.83[TSI][hapmap]
rs9562882	0.82[JPT][hapmap]
rs9562892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9568211	0.83[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.83[TSI][hapmap]
rs9568214	0.82[JPT][hapmap]
rs9568215	0.82[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.83[TSI][hapmap]
rs9568216	0.83[JPT][hapmap]
rs9568222	0.84[JPT][hapmap]
rs9568227	0.82[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv2763020	chr13:50105055-50192259	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv977384	chr13:50105089-50108548	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	miRNA target site	n/a	inside rSNPs	diseases
9	nsv525151	chr13:50106561-50107289	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
2	chr13:50077600-50114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:50080000-50107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:50086400-50113600	Weak transcription	Brain Angular Gyrus	brain
5	chr13:50086600-50108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:50086600-50114200	Weak transcription	Fetal Brain Female	brain
7	chr13:50088200-50113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:50088400-50151000	Weak transcription	Psoas Muscle	Psoas
9	chr13:50088600-50134200	Weak transcription	Stomach Mucosa	stomach
10	chr13:50089200-50107400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:50089400-50114200	Weak transcription	Colon Smooth Muscle	Colon
12	chr13:50090000-50113600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:50090000-50122800	Weak transcription	Ovary	ovary
14	chr13:50090000-50123600	Weak transcription	Esophagus	oesophagus
15	chr13:50090200-50114200	Weak transcription	Aorta	Aorta
16	chr13:50090200-50117800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:50090400-50106600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:50090400-50113400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:50090400-50114200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:50091000-50114200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr13:50091400-50138800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:50091800-50107600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:50092000-50108000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr13:50092000-50112200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr13:50092000-50114200	Weak transcription	Fetal Brain Male	brain
26	chr13:50092200-50113400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:50093000-50108000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:50093800-50113400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:50094000-50112000	Weak transcription	HSMMtube	muscle
30	chr13:50094000-50114200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:50094200-50107800	Weak transcription	HepG2	liver
32	chr13:50094600-50113600	Weak transcription	Gastric	stomach
33	chr13:50094600-50113800	Weak transcription	Pancreas	Pancrea
34	chr13:50094600-50120000	Weak transcription	Spleen	Spleen
35	chr13:50094600-50141600	Weak transcription	Right Ventricle	heart
36	chr13:50095000-50120400	Weak transcription	A549	lung
37	chr13:50096000-50108000	Weak transcription	Lung	lung
38	chr13:50096600-50106800	Weak transcription	Fetal Kidney	kidney
39	chr13:50097600-50113600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:50097600-50114000	Weak transcription	Fetal Lung	lung
41	chr13:50097800-50107800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr13:50097800-50113400	Weak transcription	NHLF	lung
43	chr13:50097800-50113600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr13:50097800-50135000	Weak transcription	Colonic Mucosa	Colon
45	chr13:50098000-50114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr13:50098200-50114000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:50100200-50112200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:50100800-50108400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr13:50101000-50110400	Weak transcription	Fetal Intestine Small	intestine
50	chr13:50101600-50107800	Weak transcription	Brain Anterior Caudate	brain

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