Variant report

Variant	rs2138692
Chromosome Location	chr10:1581728-1581729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:1575954..1577793-chr10:1581018..1583790,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10751803	0.95[JPT][hapmap]
rs10794754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10794755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10794756	0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs10794757	0.95[JPT][hapmap]
rs10903469	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10903470	0.88[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10903471	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10903472	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10903473	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10903477	0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs10903478	0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs10903479	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs10903481	0.95[JPT][hapmap]
rs10903483	0.80[CEU][hapmap];0.83[MEX][hapmap]
rs11250592	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11250593	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11250594	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11250595	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11250596	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11250597	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11250598	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11250600	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11250602	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11250608	0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs11250609	0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs11250610	0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs11250614	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs11250615	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs11250623	0.89[JPT][hapmap]
rs12220558	0.84[ASN][1000 genomes]
rs12244289	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17293886	0.84[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2138691	0.84[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2676732	0.81[ASN][1000 genomes]
rs2676733	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2676776	0.97[CHD][hapmap];0.95[JPT][hapmap]
rs2676778	0.83[ASN][1000 genomes]
rs2813368	0.81[CEU][hapmap]
rs2813454	0.95[JPT][hapmap]
rs2813458	0.80[ASN][1000 genomes]
rs2813460	0.80[ASN][1000 genomes]
rs2813461	0.85[ASN][1000 genomes]
rs34032124	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34606606	0.84[ASN][1000 genomes]
rs4253993	0.83[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4376829	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4440958	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs4631810	0.85[CEU][hapmap]
rs4880858	0.84[JPT][hapmap]
rs4880860	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4880861	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4880862	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4880863	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes]
rs4880864	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs4880867	1.00[JPT][hapmap]
rs7079988	0.81[ASN][1000 genomes]
rs7095474	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs7099162	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs7903267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7914665	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1041498	chr10:1117200-1760190	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1052682	chr10:1162925-1675641	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1043944	chr10:1168095-1626019	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv540411	chr10:1168095-1626019	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1046041	chr10:1195214-2189155	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1037054	chr10:1232041-1865296	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv540413	chr10:1232041-1865296	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv549769	chr10:1244020-1764966	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv549786	chr10:1293100-1904598	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv894736	chr10:1513349-1672408	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1054555	chr10:1558145-1965145	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv894737	chr10:1560338-1692796	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv1814319	chr10:1580035-1585629	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1801488	chr10:1580235-1585463	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv1809254	chr10:1580235-1585463	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv1826381	chr10:1580235-1585463	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3518441	chr10:1581242-1582012	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3518442	chr10:1581242-1582012	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv1793300	chr10:1581314-1585285	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2138692	LDOC1	trans	parietal	SCAN
rs2138692	PITRM1	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1580400-1581800	Enhancers	Fetal Thymus	thymus
2	chr10:1580800-1582400	Enhancers	Brain Germinal Matrix	brain
3	chr10:1581000-1585400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:1581200-1582400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:1581200-1588400	Weak transcription	Dnd41	blood
6	chr10:1581600-1581800	Enhancers	Pancreas	Pancrea

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