Variant report

Variant	rs2468315
Chromosome Location	chr12:41861289-41861290
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 189 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs1026462	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1026464	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10506191	0.82[JPT][hapmap]
rs10506192	0.82[JPT][hapmap]
rs10735993	0.90[ASN][1000 genomes]
rs10785235	0.90[JPT][hapmap]
rs10785258	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs10785261	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10785265	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785266	0.89[CEU][hapmap]
rs10880063	0.81[JPT][hapmap]
rs10880067	0.81[JPT][hapmap]
rs10880075	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10880076	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11180834	0.81[JPT][hapmap]
rs11180851	0.81[JPT][hapmap]
rs11180863	0.81[JPT][hapmap]
rs11180864	0.81[JPT][hapmap]
rs11180934	0.93[CEU][hapmap]
rs11180999	0.85[EUR][1000 genomes]
rs1155220	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1160183	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1160184	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1160748	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1160749	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11835941	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12314238	0.84[EUR][1000 genomes]
rs12817575	0.81[JPT][hapmap]
rs1350429	0.93[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1350430	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs1379758	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1379759	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1379760	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1379761	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1379763	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1379764	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1379768	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1379769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1379770	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1379771	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1379772	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1379773	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1379774	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1379776	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1405552	0.82[JPT][hapmap]
rs1458156	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1458157	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1458158	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1458159	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1458160	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1458165	0.88[CEU][hapmap]
rs1458166	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1458167	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1458168	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1471161	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1471162	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1471163	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1527090	0.82[JPT][hapmap]
rs1551593	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1551595	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1551596	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1598894	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1841025	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1870285	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1870286	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1902906	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1902907	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs1902911	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs2034923	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2125286	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2125287	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2199028	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250003	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2250009	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2250908	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2251259	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2251349	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2251672	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2251683	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2251684	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2253528	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2253633	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2253634	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255035	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2255145	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2255152	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2255404	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2256412	0.88[EUR][1000 genomes]
rs2264905	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2405919	1.00[CEU][hapmap]
rs2405920	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2405921	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2446143	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2446144	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2468310	0.81[JPT][hapmap];0.88[EUR][1000 genomes]
rs2468314	0.93[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2468316	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468317	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608689	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608690	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608691	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2608692	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608696	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2608697	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2608701	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2608702	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2608703	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2608704	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2608705	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2608706	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2608707	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2608708	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2608710	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2608711	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2608714	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2608715	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2608716	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2608718	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2710264	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs2730802	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2730803	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2730804	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2730805	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2730807	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2730809	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730810	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730811	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2730814	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2730817	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2730818	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2730819	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730820	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730821	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730822	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2730824	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2730827	0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2730828	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730829	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730830	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2733269	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2733274	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2733275	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2733276	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2733278	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2733280	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2733282	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2733284	0.86[EUR][1000 genomes]
rs2733285	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2733287	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2733289	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2733290	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2733291	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2733292	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2733293	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2733297	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2733298	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2733299	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs285556	0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs285560	0.86[EUR][1000 genomes]
rs285575	0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs285590	0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs285592	0.86[EUR][1000 genomes]
rs285593	0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs285595	0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs2897268	0.81[JPT][hapmap]
rs2957590	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35766123	0.84[EUR][1000 genomes]
rs437178	0.83[EUR][1000 genomes]
rs4584644	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4768353	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768354	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298808	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7954518	0.85[EUR][1000 genomes]
rs7960955	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs7963312	0.82[JPT][hapmap]
rs7966732	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7977318	1.00[CEU][hapmap]
rs897973	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs930905	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs961337	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs971998	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs981012	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs981014	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs989904	0.93[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs996356	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41858400-41863000	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr12:41859000-41862000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:41859400-41861400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:41859400-41862200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:41859800-41862000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:41859800-41862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:41859800-41862200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:41860000-41861400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:41860000-41861400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:41860000-41862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:41860200-41861800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:41860200-41869200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:41860400-41861400	Weak transcription	Brain Germinal Matrix	brain
14	chr12:41860400-41861600	Weak transcription	Fetal Lung	lung
15	chr12:41860800-41861600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr12:41861000-41861400	Enhancers	Brain Anterior Caudate	brain
17	chr12:41861000-41861400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr12:41861000-41866600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:41861000-41866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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