Variant report

Variant	rs10512341
Chromosome Location	chr9:108595364-108595365
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	chr9:108591234..108593447-chr9:108594377..108596340,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10114077	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10114831	0.82[AMR][1000 genomes]
rs10116066	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10117187	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10118661	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs10121208	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10122308	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs10156569	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10156571	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10217508	0.81[EUR][1000 genomes]
rs10441744	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10512340	0.95[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs10739213	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10759128	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs10759132	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10759133	0.95[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap]
rs10759135	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10759143	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759144	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10759145	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10759146	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10816294	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10816295	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs10816296	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs10816297	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs10816298	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10816299	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10816300	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10816302	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs10816308	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10816310	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10816311	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10816313	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs10816314	0.82[EUR][1000 genomes]
rs10816319	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10816324	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10816330	0.81[EUR][1000 genomes]
rs10816331	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10816337	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10816345	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10816346	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10816347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10978196	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10978202	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10978203	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10978220	0.82[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes]
rs10978226	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10978230	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10978235	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10978236	0.82[AMR][1000 genomes]
rs10978239	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10978240	0.82[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10978241	0.95[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes]
rs10978251	0.81[EUR][1000 genomes]
rs10978252	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10978253	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10978257	0.81[EUR][1000 genomes]
rs10978265	0.81[EUR][1000 genomes]
rs10978300	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10978301	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10978302	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10978303	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10978306	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11506857	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11506858	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338812	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12338851	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs12341846	0.80[EUR][1000 genomes]
rs12344129	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs12345343	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs12346407	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12347783	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs12684672	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs13286237	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs13301124	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1509424	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1979992	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs1979993	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2136410	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2175121	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2175122	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2271246	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2417621	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900400	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3010415	0.86[CHB][hapmap]
rs3105991	0.86[CHB][hapmap]
rs3817141	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs4292753	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563949	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477455	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs6477460	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6477462	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs6477463	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs6477469	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477470	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477472	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477473	0.92[ASN][1000 genomes]
rs6477474	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7020523	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7024111	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024357	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024988	0.82[CHB][hapmap]
rs7026814	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs7026968	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs7028906	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs7030236	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031360	0.95[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs7031431	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7040890	0.82[AMR][1000 genomes]
rs7043222	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7046212	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7046293	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7047678	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs7861268	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7862565	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7865672	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs7872125	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7873663	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7875434	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs872245	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872246	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9777628	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs9969715	0.95[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893693	chr9:108427062-108683134	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv893694	chr9:108486533-108854018	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1041073	chr9:108535813-108731343	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv508558	chr9:108536115-108611087	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	n/a
5	nsv1036849	chr9:108582944-108651205	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1052684	chr9:108582944-108730280	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv615140	chr9:108592589-108725567	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10512341	TMEM38B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108594800-108595600	Enhancers	HMEC	breast
2	chr9:108595200-108596200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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