Variant report

Variant	rs1534280
Chromosome Location	chr12:41726783-41726784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41726380..41728988-chr12:41729425..41732351,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1000147	0.80[JPT][hapmap]
rs10506191	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10506192	1.00[CEU][hapmap]
rs10735995	0.96[CEU][hapmap]
rs10785235	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10785254	0.84[JPT][hapmap]
rs10785258	1.00[CEU][hapmap]
rs10785259	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10785261	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10785262	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10785263	0.96[CEU][hapmap]
rs10785264	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs10785266	0.80[JPT][hapmap]
rs10880054	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880063	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10880067	1.00[CEU][hapmap]
rs10880071	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11180834	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11180836	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11180843	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11180851	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11180863	1.00[CEU][hapmap]
rs11180864	1.00[CEU][hapmap]
rs11180878	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11180934	0.80[JPT][hapmap]
rs1160183	0.90[JPT][hapmap]
rs11614231	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11835941	1.00[CEU][hapmap]
rs12146801	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12369680	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12370984	0.89[EUR][1000 genomes]
rs12422274	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12578784	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12817575	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1350429	0.81[JPT][hapmap]
rs1379763	0.81[JPT][hapmap]
rs1379774	0.80[JPT][hapmap]
rs1405549	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1405553	0.80[JPT][hapmap];0.96[YRI][hapmap]
rs1458159	0.81[JPT][hapmap]
rs1458166	0.81[JPT][hapmap]
rs1458168	0.81[JPT][hapmap]
rs1458176	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs1527090	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1534279	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1544000	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1551593	0.84[JPT][hapmap]
rs1551596	0.81[JPT][hapmap]
rs1598894	0.81[JPT][hapmap]
rs1841025	0.81[JPT][hapmap]
rs1870285	0.81[JPT][hapmap]
rs1902907	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1902909	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1902911	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1918221	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1918226	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1918227	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2125287	0.84[JPT][hapmap]
rs2199030	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2204591	0.82[JPT][hapmap]
rs2250908	0.81[JPT][hapmap]
rs2251349	0.81[JPT][hapmap]
rs2255035	0.84[JPT][hapmap]
rs2405911	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2405919	0.81[JPT][hapmap]
rs2446143	0.85[JPT][hapmap]
rs2446144	0.81[JPT][hapmap]
rs2468314	0.81[JPT][hapmap]
rs2468317	0.81[JPT][hapmap]
rs2608696	0.81[JPT][hapmap]
rs2608703	0.81[JPT][hapmap]
rs2608704	0.81[JPT][hapmap]
rs2608706	0.81[JPT][hapmap]
rs2608707	0.81[JPT][hapmap]
rs2608708	0.81[JPT][hapmap]
rs2608715	0.81[JPT][hapmap]
rs2608718	0.80[JPT][hapmap]
rs2730805	0.81[JPT][hapmap]
rs2730807	0.84[JPT][hapmap]
rs2730809	0.81[JPT][hapmap]
rs2730822	0.81[JPT][hapmap]
rs2733275	0.81[JPT][hapmap]
rs2733278	0.81[JPT][hapmap]
rs2733299	0.80[JPT][hapmap]
rs2897268	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34220247	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34892771	0.89[EUR][1000 genomes]
rs6582332	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6582334	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6582336	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7133365	1.00[CEU][hapmap]
rs7301366	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7315276	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7488531	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7954106	1.00[CEU][hapmap]
rs7956320	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7957823	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7960955	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7963312	1.00[CEU][hapmap]
rs7967532	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7977318	0.81[JPT][hapmap]
rs7979586	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs930905	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs961337	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs971998	0.81[JPT][hapmap]
rs9783512	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs989904	0.81[JPT][hapmap]

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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41721200-41729600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:41721400-41726800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:41721400-41727000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:41721400-41727600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:41721400-41728000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:41721600-41726800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:41721600-41727000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:41721600-41727000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:41721600-41727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:41721600-41727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:41722800-41733000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:41723200-41731200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:41723600-41727000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:41725600-41726800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:41726000-41728600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:41726200-41727200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:41726200-41727400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:41726200-41727400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:41726200-41728000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:41726400-41727800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:41726600-41727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:41726600-41728800	Enhancers	Brain Germinal Matrix	brain

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