Variant report

Variant	rs13135257
Chromosome Location	chr4:95527759-95527760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10031423	0.82[EUR][1000 genomes]
rs10033326	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10034824	0.94[CHB][hapmap];0.82[AMR][1000 genomes]
rs11723532	0.85[EUR][1000 genomes]
rs11724023	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11725850	0.87[EUR][1000 genomes]
rs11732668	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs11732687	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11734014	0.86[EUR][1000 genomes]
rs12500426	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs12639623	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12639887	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12639980	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12641023	0.84[EUR][1000 genomes]
rs12642449	0.89[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12649976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12650641	0.80[EUR][1000 genomes]
rs13110828	0.81[EUR][1000 genomes]
rs13122786	0.93[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1543013	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2047025	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2280002	0.80[EUR][1000 genomes]
rs2452601	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2510769	0.87[CHB][hapmap]
rs28740868	0.85[EUR][1000 genomes]
rs34403066	0.85[EUR][1000 genomes]
rs34438564	0.85[EUR][1000 genomes]
rs35959898	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs3805263	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3805264	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805266	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs3843444	0.84[CHB][hapmap]
rs4634230	0.88[CEU][hapmap];0.83[CHB][hapmap]
rs4699567	0.85[EUR][1000 genomes]
rs5013417	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60063444	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60195134	0.86[EUR][1000 genomes]
rs6829381	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs6853490	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6854173	0.89[CEU][hapmap];0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71601224	0.86[EUR][1000 genomes]
rs7662466	0.89[CEU][hapmap];0.83[CHB][hapmap]
rs7690296	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7697149	0.87[EUR][1000 genomes]
rs902981	0.86[CEU][hapmap]
rs951613	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs973995	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95489600-95539200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:95493200-95540200	Weak transcription	Small Intestine	intestine
3	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
4	chr4:95497200-95553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:95497200-95569400	Weak transcription	Esophagus	oesophagus
6	chr4:95497400-95542000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:95497600-95539200	Weak transcription	HepG2	liver
8	chr4:95507200-95548200	Weak transcription	Psoas Muscle	Psoas
9	chr4:95507200-95548600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:95507800-95539200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:95511200-95554800	Weak transcription	NHDF-Ad	bronchial
12	chr4:95513000-95539000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:95514200-95539200	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:95514400-95539200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:95514400-95544600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:95514600-95530800	Weak transcription	Primary T cells from cord blood	blood
17	chr4:95514600-95539200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:95514600-95542600	Weak transcription	NHEK	skin
19	chr4:95514800-95531200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:95514800-95532200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:95514800-95539000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:95515000-95538600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:95515000-95562000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:95520600-95532200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:95521000-95529800	Weak transcription	HMEC	breast
26	chr4:95521400-95529000	Weak transcription	Liver	Liver
27	chr4:95521400-95531200	Weak transcription	Fetal Intestine Large	intestine
28	chr4:95521600-95528400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:95521600-95528800	Weak transcription	HSMM	muscle
30	chr4:95521600-95544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:95522200-95538200	Weak transcription	Placenta	Placenta
32	chr4:95522400-95532200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:95525000-95531400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:95525000-95533600	Weak transcription	Gastric	stomach
35	chr4:95525000-95538600	Weak transcription	Fetal Intestine Small	intestine
36	chr4:95525000-95538600	Weak transcription	Right Ventricle	heart
37	chr4:95525000-95539200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:95525000-95539200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:95525000-95569600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:95525000-95586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:95525000-95590000	Weak transcription	Lung	lung
42	chr4:95525400-95539200	Weak transcription	HSMMtube	muscle
43	chr4:95525400-95562200	Weak transcription	NHLF	lung
44	chr4:95525600-95528800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:95525600-95531200	Weak transcription	Left Ventricle	heart
46	chr4:95526600-95529000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:95526600-95529400	Weak transcription	NH-A	brain
48	chr4:95526600-95539000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:95526600-95539200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:95526600-95539200	Weak transcription	Ovary	ovary

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