Variant report

Variant	rs2395689
Chromosome Location	chr6:37911693-37911694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:190)

rs_ID	r²[population]
rs10428769	0.88[ASN][1000 genomes]
rs10485030	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10498739	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs10498740	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs10947702	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10947704	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10947710	0.84[CHB][hapmap]
rs11750950	0.84[CHB][hapmap]
rs11751781	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11751927	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11751962	0.82[ASN][1000 genomes]
rs11752521	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11752863	0.84[ASN][1000 genomes]
rs11753054	0.84[CHB][hapmap]
rs11755095	0.81[ASN][1000 genomes]
rs11755629	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11756713	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11757072	0.84[CHB][hapmap]
rs11757161	0.82[ASN][1000 genomes]
rs11758095	0.84[CHB][hapmap]
rs11759483	0.84[CHB][hapmap]
rs11759496	0.81[ASN][1000 genomes]
rs11759826	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11964613	0.88[CEU][hapmap];1.00[TSI][hapmap]
rs11964671	0.88[CEU][hapmap]
rs11967129	0.82[ASN][1000 genomes]
rs11969988	0.96[ASN][1000 genomes]
rs11970017	0.82[CEU][hapmap]
rs12660221	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs12660498	0.89[CHB][hapmap]
rs12660732	0.90[CHB][hapmap]
rs12660773	0.87[CHB][hapmap]
rs12660919	0.97[ASN][1000 genomes]
rs12660922	0.84[ASN][1000 genomes]
rs12661073	0.90[CHB][hapmap]
rs12661129	0.81[CHB][hapmap]
rs12661378	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12661480	0.84[CHB][hapmap]
rs12661702	0.82[ASN][1000 genomes]
rs12662305	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs12662426	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12663427	0.90[CHB][hapmap]
rs12664091	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12664768	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12664900	0.84[CHB][hapmap]
rs13195545	0.81[ASN][1000 genomes]
rs13198459	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13200310	0.86[EUR][1000 genomes]
rs13203867	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13205311	0.82[ASN][1000 genomes]
rs13206035	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13207526	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs13210967	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs13211881	0.83[EUR][1000 genomes]
rs13217630	0.82[CEU][hapmap]
rs13219500	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16890175	0.80[CHD][hapmap]
rs16890177	0.90[CHB][hapmap]
rs16890181	0.90[CHB][hapmap]
rs16890194	0.88[CEU][hapmap];1.00[TSI][hapmap]
rs16890215	0.90[CHB][hapmap]
rs16890247	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs16890267	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16890298	0.90[CHB][hapmap]
rs16890299	0.90[CHB][hapmap]
rs16890301	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16890305	0.90[CHB][hapmap]
rs16890307	0.85[CHB][hapmap]
rs16890309	0.90[CHB][hapmap];0.82[CHD][hapmap]
rs16890341	0.83[CHB][hapmap]
rs16890362	0.90[CHB][hapmap]
rs16890365	0.87[CEU][hapmap];1.00[TSI][hapmap]
rs16890370	0.90[CHB][hapmap]
rs2025431	0.81[ASN][1000 genomes]
rs2055207	0.90[CHB][hapmap]
rs2055208	0.83[CHB][hapmap]
rs2064795	0.90[CHB][hapmap]
rs2145887	0.84[CHB][hapmap]
rs2273441	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2274090	0.90[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap]
rs2274091	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2453882	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2645096	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2645098	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2645104	0.88[CEU][hapmap];1.00[TSI][hapmap]
rs2645111	0.90[ASN][1000 genomes]
rs2645125	0.90[ASN][1000 genomes]
rs2645126	0.88[CEU][hapmap]
rs2645130	0.98[ASN][1000 genomes]
rs28385568	1.00[EUR][1000 genomes]
rs2842499	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2842506	0.91[EUR][1000 genomes]
rs2842510	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2842511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842512	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842513	0.85[EUR][1000 genomes]
rs2842514	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2842516	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2842521	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2842524	0.88[CEU][hapmap]
rs33997846	1.00[EUR][1000 genomes]
rs34054102	0.89[EUR][1000 genomes]
rs34123707	0.82[EUR][1000 genomes]
rs34254045	0.97[ASN][1000 genomes]
rs34449592	0.95[EUR][1000 genomes]
rs34450348	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs34618835	1.00[EUR][1000 genomes]
rs34634043	1.00[EUR][1000 genomes]
rs34754573	0.82[EUR][1000 genomes]
rs35051126	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35122358	0.82[ASN][1000 genomes]
rs35216205	0.82[ASN][1000 genomes]
rs35248825	0.83[EUR][1000 genomes]
rs35330991	0.89[EUR][1000 genomes]
rs35379375	0.86[EUR][1000 genomes]
rs35465740	1.00[EUR][1000 genomes]
rs35575717	1.00[EUR][1000 genomes]
rs35653300	0.95[EUR][1000 genomes]
rs35772972	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs35953900	0.87[EUR][1000 genomes]
rs35955196	0.91[EUR][1000 genomes]
rs36069529	0.91[EUR][1000 genomes]
rs3844314	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3852216	0.90[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.83[ASN][1000 genomes]
rs4394213	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4524602	0.90[CHB][hapmap]
rs4711518	0.88[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs55679841	0.88[ASN][1000 genomes]
rs55943813	0.82[EUR][1000 genomes]
rs56023538	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56129320	0.82[ASN][1000 genomes]
rs56678832	1.00[EUR][1000 genomes]
rs57276677	0.82[ASN][1000 genomes]
rs57402213	0.81[ASN][1000 genomes]
rs57911756	0.82[ASN][1000 genomes]
rs58333612	0.88[ASN][1000 genomes]
rs58611435	0.86[ASN][1000 genomes]
rs59036086	0.83[ASN][1000 genomes]
rs59103990	0.84[ASN][1000 genomes]
rs61411293	0.88[ASN][1000 genomes]
rs6458032	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6458037	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6903743	0.86[ASN][1000 genomes]
rs6906289	0.90[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs6908761	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs6910837	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs6911481	0.88[CEU][hapmap]
rs6911716	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6912250	0.83[EUR][1000 genomes]
rs6916057	0.87[CEU][hapmap]
rs6917208	0.87[CEU][hapmap];1.00[TSI][hapmap]
rs6917736	0.95[EUR][1000 genomes]
rs6918802	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6919884	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs6923132	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6923254	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6923665	0.82[EUR][1000 genomes]
rs6925563	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6940491	1.00[CEU][hapmap]
rs71569395	0.87[EUR][1000 genomes]
rs71569397	1.00[EUR][1000 genomes]
rs71569399	0.82[EUR][1000 genomes]
rs71569402	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73419440	0.86[ASN][1000 genomes]
rs73421436	0.84[ASN][1000 genomes]
rs73421439	0.84[ASN][1000 genomes]
rs752110	0.84[CHB][hapmap]
rs7739801	0.83[CHB][hapmap]
rs7742226	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7745796	0.89[ASN][1000 genomes]
rs7746266	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7747538	0.82[EUR][1000 genomes]
rs7747996	0.97[ASN][1000 genomes]
rs7748312	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7756261	0.85[CHB][hapmap]
rs7759145	0.82[ASN][1000 genomes]
rs7759792	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7760770	0.83[EUR][1000 genomes]
rs7761561	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7764130	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7773419	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7775794	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7776025	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs874095	0.90[CHB][hapmap]
rs9296236	0.87[CEU][hapmap]
rs9470772	0.84[CHB][hapmap]
rs9470777	0.84[CHB][hapmap]
rs9470784	0.84[CHB][hapmap]
rs9470794	0.84[CHB][hapmap]
rs9470798	0.84[CHB][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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv602956	chr6:37909084-37986489	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2395689	ELOVL2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:37880200-37930000	Weak transcription	Thymus	Thymus
3	chr6:37884800-37917000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr6:37887600-37933200	Weak transcription	NHDF-Ad	bronchial
5	chr6:37892600-37928800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:37896800-37929000	Weak transcription	Esophagus	oesophagus
7	chr6:37898200-37913800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:37901000-37915400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:37902200-37913600	Weak transcription	HepG2	liver
10	chr6:37904800-37920400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:37904800-37920400	Weak transcription	Small Intestine	intestine
12	chr6:37904800-37933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:37905000-37919600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr6:37905800-37916200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:37905800-37916600	Weak transcription	Dnd41	blood
16	chr6:37905800-37924000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:37907000-37921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:37907000-37926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:37908000-37912400	Weak transcription	Left Ventricle	heart
20	chr6:37908200-37913600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:37908600-37920400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:37909400-37912400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:37909400-37912800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr6:37909600-37912800	Weak transcription	Fetal Heart	heart
25	chr6:37909600-37914400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:37909800-37917400	Weak transcription	Ovary	ovary
27	chr6:37910000-37912600	Weak transcription	Psoas Muscle	Psoas
28	chr6:37910000-37913200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:37910000-37913800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:37910000-37913800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:37910000-37913800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:37910000-37922600	Weak transcription	Right Ventricle	heart
33	chr6:37910200-37911800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:37910200-37911800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:37910200-37911800	Enhancers	Colon Smooth Muscle	Colon
36	chr6:37910400-37911800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:37910400-37911800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr6:37910400-37911800	Enhancers	Fetal Lung	lung
39	chr6:37910400-37912000	Flanking Active TSS	GM12878-XiMat	blood
40	chr6:37910600-37911800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr6:37910600-37911800	Enhancers	Liver	Liver
42	chr6:37910600-37911800	Enhancers	A549	lung
43	chr6:37910800-37912600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:37910800-37914000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:37910800-37914000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:37910800-37914200	Weak transcription	Fetal Brain Male	brain
47	chr6:37911000-37913600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr6:37911000-37914000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr6:37911000-37919600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:37911000-37933200	Weak transcription	NHEK	skin

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