Variant report

Variant	rs17129291
Chromosome Location	chr12:41758676-41758677
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41754640..41756533-chr12:41757713..41760164,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10467086	0.85[JPT][hapmap]
rs10506186	0.85[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs10506187	0.85[JPT][hapmap]
rs10506189	0.83[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs10748301	0.85[JPT][hapmap]
rs10785236	0.83[JPT][hapmap]
rs10785238	0.85[JPT][hapmap]
rs10785240	0.84[JPT][hapmap]
rs10785241	0.84[JPT][hapmap]
rs10785242	0.83[JPT][hapmap]
rs10785243	0.83[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs10785244	0.85[JPT][hapmap]
rs10785245	0.84[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs10785247	0.83[JPT][hapmap]
rs10785248	0.81[AFR][1000 genomes]
rs10785250	0.81[AFR][1000 genomes]
rs10785252	0.81[AFR][1000 genomes]
rs10785254	0.83[JPT][hapmap];0.81[AFR][1000 genomes]
rs10785255	0.83[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs10785256	0.85[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs10880038	0.83[JPT][hapmap]
rs10880039	0.84[JPT][hapmap]
rs10880042	0.85[JPT][hapmap]
rs10880043	0.85[JPT][hapmap]
rs10880044	0.84[JPT][hapmap]
rs10880047	0.85[JPT][hapmap]
rs10880053	0.85[JPT][hapmap]
rs10880056	0.90[AFR][1000 genomes]
rs10880058	0.85[JPT][hapmap]
rs10880061	0.85[JPT][hapmap];0.81[AFR][1000 genomes]
rs10880062	0.89[AFR][1000 genomes]
rs11180838	0.84[JPT][hapmap]
rs11180839	0.87[EUR][1000 genomes]
rs11180846	0.83[JPT][hapmap]
rs11180847	0.84[AFR][1000 genomes]
rs11180853	0.95[CEU][hapmap];1.00[EUR][1000 genomes]
rs11180882	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12427081	1.00[CEU][hapmap]
rs1317540	0.87[AFR][1000 genomes]
rs1317541	0.89[JPT][hapmap]
rs1379767	0.95[CEU][hapmap]
rs1405557	0.85[JPT][hapmap]
rs1465072	0.83[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs1534277	0.82[JPT][hapmap]
rs1589983	1.00[CEU][hapmap]
rs1609058	0.84[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs1609059	0.85[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs1918219	0.86[AFR][1000 genomes]
rs1918220	0.85[JPT][hapmap];0.82[YRI][hapmap]
rs1918222	0.87[AFR][1000 genomes]
rs1918225	0.85[JPT][hapmap]
rs1918236	0.82[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs2141105	0.85[JPT][hapmap]
rs2177974	0.84[JPT][hapmap]
rs2204591	0.81[JPT][hapmap]
rs4430580	0.85[JPT][hapmap]
rs4768347	0.85[JPT][hapmap]
rs4768348	0.82[JPT][hapmap]
rs7133806	0.85[JPT][hapmap]
rs7298511	0.84[JPT][hapmap]
rs7298953	0.85[JPT][hapmap]
rs7299325	0.85[JPT][hapmap]
rs7310743	0.81[AFR][1000 genomes]
rs7315905	0.85[JPT][hapmap]
rs7959175	0.83[JPT][hapmap]
rs7962343	0.85[JPT][hapmap]
rs941190	0.85[JPT][hapmap];0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41755000-41759600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:41755400-41760200	Enhancers	Brain Germinal Matrix	brain
3	chr12:41757000-41759600	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:41757400-41759600	Weak transcription	Fetal Kidney	kidney
5	chr12:41757800-41759800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:41758400-41759000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:41758600-41758800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:41758600-41758800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:41758600-41758800	Enhancers	HUES48 Cell Line	embryonic stem cell

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