Variant report

Variant	rs12194504
Chromosome Location	chr6:11579664-11579665
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10456073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10947305	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10947330	0.81[ASN][1000 genomes]
rs10947356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10947357	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10947360	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10947400	0.94[ASN][1000 genomes]
rs10947402	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10947403	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10947419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12189605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12189829	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12190208	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12191269	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12191798	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12192607	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192728	0.84[ASN][1000 genomes]
rs12193222	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12193579	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12194303	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12194423	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12194522	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12194708	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12195075	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12196157	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12197783	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12199315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12199737	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12201467	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12201652	0.81[ASN][1000 genomes]
rs12202370	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12203104	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12203396	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12203843	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12204093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12207574	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12208383	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12208387	0.92[ASN][1000 genomes]
rs12209963	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12210023	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12210076	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12211376	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12211930	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes]
rs12212790	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12214484	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12524640	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12525082	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12526369	0.81[ASN][1000 genomes]
rs16868542	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16868544	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16871460	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16871461	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs16871481	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16871482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17697372	0.84[ASN][1000 genomes]
rs17697397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17764967	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2275398	0.98[ASN][1000 genomes]
rs28651839	0.84[ASN][1000 genomes]
rs489364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs56132761	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6907207	0.84[CHB][hapmap]
rs9461842	0.92[ASN][1000 genomes]
rs9461895	0.98[ASN][1000 genomes]
rs9469217	0.88[JPT][hapmap]
rs9469363	0.92[ASN][1000 genomes]
rs9469368	0.92[ASN][1000 genomes]
rs9469544	0.98[ASN][1000 genomes]
rs9469545	0.98[ASN][1000 genomes]
rs9469546	0.98[ASN][1000 genomes]
rs9469548	0.98[ASN][1000 genomes]
rs9469550	0.98[ASN][1000 genomes]
rs9469572	0.82[CHB][hapmap]
rs9469574	0.82[CHB][hapmap]
rs9791196	0.91[AFR][1000 genomes];0.86[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	nsv600989	chr6:11509323-11581990	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1015234	chr6:11545582-11583516	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11567000-11579800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:11567600-11581400	Weak transcription	Fetal Brain Female	brain
3	chr6:11567600-11582600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:11567600-11586200	Weak transcription	Fetal Intestine Small	intestine
5	chr6:11567600-11586400	Weak transcription	Fetal Stomach	stomach
6	chr6:11567600-11586600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:11567800-11580000	Weak transcription	Primary B cells from cord blood	blood
8	chr6:11567800-11584200	Weak transcription	HSMMtube	muscle
9	chr6:11567800-11586400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:11568000-11586200	Weak transcription	Liver	Liver
11	chr6:11568000-11586600	Weak transcription	Brain Angular Gyrus	brain
12	chr6:11568600-11586800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:11571800-11586600	Weak transcription	Ovary	ovary
14	chr6:11575800-11581000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:11575800-11584400	Weak transcription	HSMM	muscle
16	chr6:11575800-11586200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:11576000-11580200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:11576000-11582600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:11576000-11584600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:11576000-11586200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:11576000-11586400	Weak transcription	HepG2	liver
22	chr6:11576400-11580000	Weak transcription	GM12878-XiMat	blood
23	chr6:11576400-11581600	Weak transcription	Dnd41	blood
24	chr6:11578600-11583200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr6:11578800-11580200	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:11578800-11580200	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr6:11579200-11586400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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