Variant report

Variant	rs12639750
Chromosome Location	chr4:106669023-106669024
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10025790	0.84[JPT][hapmap]
rs10516523	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11722731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11933466	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs11934139	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11941690	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1294667	0.83[EUR][1000 genomes]
rs1294669	0.83[EUR][1000 genomes]
rs1294670	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1294673	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13120110	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13148869	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17036102	0.89[YRI][hapmap]
rs17262764	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2080789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2544395	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2544398	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs2544406	0.82[CHB][hapmap]
rs2544408	0.82[CHB][hapmap]
rs2544409	0.82[CHB][hapmap]
rs2544412	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2544413	0.88[CEU][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2544425	0.82[CHB][hapmap]
rs2553449	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2553453	0.82[CHB][hapmap]
rs2553458	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2553462	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2553468	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28628106	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3756260	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4699196	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6533218	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6820200	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6820671	0.89[YRI][hapmap]
rs7659526	0.89[YRI][hapmap]
rs7684839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7685231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][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:38 , 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	chr4:106659200-106669800	Weak transcription	Left Ventricle	heart
11	chr4:106659400-106679400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:106659400-106686400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:106659600-106669400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:106659600-106670000	Weak transcription	Fetal Intestine Large	intestine
15	chr4:106659600-106671000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:106659600-106691800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:106659800-106669600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:106659800-106671800	Weak transcription	Fetal Brain Female	brain
19	chr4:106660000-106670200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:106660200-106670000	Weak transcription	Adipose Nuclei	Adipose
21	chr4:106660200-106671200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:106660800-106669800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:106661400-106669800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:106661400-106670200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:106661400-106676200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:106661400-106686600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:106661400-106686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:106661600-106669800	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:106661600-106696800	Weak transcription	Fetal Intestine Small	intestine
30	chr4:106661800-106675800	Weak transcription	Primary B cells from cord blood	blood
31	chr4:106662000-106670200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:106663800-106688600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:106666400-106669400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:106666400-106671400	Weak transcription	HMEC	breast
35	chr4:106666600-106673000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:106668400-106673000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:106668600-106679800	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:106669000-106669400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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