Variant report

Variant	rs2405919
Chromosome Location	chr12:41852838-41852839
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1026462	0.93[CEU][hapmap]
rs1026464	0.93[CEU][hapmap]
rs10785240	0.81[JPT][hapmap]
rs10785254	0.84[JPT][hapmap]
rs10785264	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10785265	0.92[CEU][hapmap]
rs10785266	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10880054	0.81[JPT][hapmap]
rs10880071	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10880073	0.95[JPT][hapmap]
rs10880076	0.96[CEU][hapmap]
rs11180934	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1160183	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1160184	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1160748	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1160749	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11614231	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1350429	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1350430	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1379763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1379768	0.92[CEU][hapmap]
rs1379769	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs1379774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1379775	1.00[JPT][hapmap]
rs1458156	0.89[CEU][hapmap]
rs1458157	0.89[CEU][hapmap]
rs1458158	0.89[CEU][hapmap]
rs1458159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1458165	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs1458166	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1458167	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1458168	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1471161	0.92[CEU][hapmap];0.86[YRI][hapmap]
rs1534280	0.81[JPT][hapmap]
rs1551593	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1551596	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1598894	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1841025	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1870285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1870286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2125287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2204591	0.81[JPT][hapmap]
rs2250009	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2250908	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2251349	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2251684	0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2255035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2255145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2446143	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2446144	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2468314	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2468315	1.00[CEU][hapmap]
rs2468317	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2608692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2608696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2608697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2608702	1.00[CEU][hapmap]
rs2608703	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2608704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2608706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2608707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2608708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2608711	0.96[CEU][hapmap]
rs2608715	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2608718	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2710264	0.82[CEU][hapmap]
rs2730803	0.89[CEU][hapmap]
rs2730805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2730807	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2730809	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2730814	0.89[CEU][hapmap]
rs2730817	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2730819	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2730820	0.93[CEU][hapmap]
rs2730821	0.92[CEU][hapmap]
rs2730822	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2730828	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2730829	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2730830	0.92[CEU][hapmap]
rs2733274	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733275	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2733278	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2733282	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733287	0.89[CEU][hapmap]
rs2733289	0.93[CEU][hapmap]
rs2733293	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2733299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4584644	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7298808	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7977318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs897973	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs971998	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs981012	0.93[CEU][hapmap]
rs981014	0.93[CEU][hapmap];0.80[YRI][hapmap]
rs989904	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs996356	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3501985	chr12:41847710-41863530	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
3	esv3501996	chr12:41847724-41863526	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
4	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2012474	chr12:41852613-41853052	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
6	esv994429	chr12:41852813-41852843	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
7	esv1420235	chr12:41852827-41852858	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
8	nsv53547	chr12:41852830-41852860	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41848600-41860800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:41852200-41853400	Enhancers	Brain Germinal Matrix	brain
4	chr12:41852200-41854000	Enhancers	Fetal Brain Female	brain
5	chr12:41852400-41853400	Enhancers	Colon Smooth Muscle	Colon
6	chr12:41852400-41853800	Enhancers	Fetal Lung	lung
7	chr12:41852400-41854000	Enhancers	Fetal Brain Male	brain
8	chr12:41852600-41854800	Enhancers	Brain Angular Gyrus	brain
9	chr12:41852600-41855000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr12:41852800-41853800	Enhancers	Brain Substantia Nigra	brain
11	chr12:41852800-41855000	Enhancers	Brain Anterior Caudate	brain
12	chr12:41852800-41857800	Weak transcription	Stomach Smooth Muscle	stomach

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