Variant report

Variant	rs11722731
Chromosome Location	chr4:106666773-106666774
allele	G/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:43)

rs_ID	r²[population]
rs10025790	0.82[JPT][hapmap]
rs10516523	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11933466	0.82[CHB][hapmap]
rs11934139	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11941690	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12504088	0.86[YRI][hapmap]
rs12511885	0.86[YRI][hapmap]
rs12639750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1294670	1.00[ASN][1000 genomes]
rs1294673	1.00[ASN][1000 genomes]
rs13120110	0.87[ASN][1000 genomes]
rs13138544	0.85[CHD][hapmap]
rs13147012	0.82[ASN][1000 genomes]
rs13148869	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17036098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17262764	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2044536	0.95[CHD][hapmap]
rs2080789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2544395	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2544398	0.82[CHB][hapmap]
rs2544406	0.82[CHB][hapmap]
rs2544408	0.82[CHB][hapmap];0.84[TSI][hapmap]
rs2544409	0.90[CEU][hapmap];0.82[CHB][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs2544412	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2544413	0.87[ASN][1000 genomes]
rs2544425	0.82[CHB][hapmap];0.84[TSI][hapmap]
rs2553449	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2553453	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs2553454	0.81[EUR][1000 genomes]
rs2553458	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2553462	0.92[ASN][1000 genomes]
rs2553468	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs28628106	0.92[ASN][1000 genomes]
rs3756260	0.96[ASN][1000 genomes]
rs3796926	0.80[AFR][1000 genomes]
rs4699196	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4699198	0.86[YRI][hapmap]
rs6533218	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6820200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7680134	0.82[ASN][1000 genomes]
rs7684839	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7685231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690167	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv879700	chr4:106643445-106745057	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000947	chr4:106651153-106701679	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:106634000-106693200	Weak transcription	K562	blood
3	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:106648000-106669800	Weak transcription	HSMM	muscle
5	chr4:106657000-106669800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:106657000-106669800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:106657000-106670000	Weak transcription	Gastric	stomach
8	chr4:106657000-106670200	Weak transcription	Ovary	ovary
9	chr4:106659000-106669800	Weak transcription	Dnd41	blood
10	chr4:106659200-106666800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:106659200-106667200	Weak transcription	A549	lung
12	chr4:106659200-106669800	Weak transcription	Left Ventricle	heart
13	chr4:106659400-106668600	Weak transcription	Primary T cells from cord blood	blood
14	chr4:106659400-106679400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:106659400-106686400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:106659600-106668400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:106659600-106669400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:106659600-106670000	Weak transcription	Fetal Intestine Large	intestine
19	chr4:106659600-106671000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:106659600-106691800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:106659800-106669600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:106659800-106671800	Weak transcription	Fetal Brain Female	brain
23	chr4:106660000-106670200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:106660200-106667800	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:106660200-106670000	Weak transcription	Adipose Nuclei	Adipose
26	chr4:106660200-106671200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:106660800-106669800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:106661400-106669000	Weak transcription	Spleen	Spleen
29	chr4:106661400-106669800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:106661400-106670200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:106661400-106676200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:106661400-106686600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:106661400-106686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:106661600-106668000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:106661600-106669000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:106661600-106669800	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:106661600-106696800	Weak transcription	Fetal Intestine Small	intestine
38	chr4:106661800-106675800	Weak transcription	Primary B cells from cord blood	blood
39	chr4:106662000-106668400	Weak transcription	Fetal Thymus	thymus
40	chr4:106662000-106670200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:106663800-106688600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:106666400-106669400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:106666400-106671400	Weak transcription	HMEC	breast
44	chr4:106666600-106673000	Weak transcription	Brain Cingulate Gyrus	brain

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