Variant report

Variant	rs4145851
Chromosome Location	chr5:61593016-61593017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61591655..61593210-chr5:61601094..61603116,2	K562	blood:
2	chr5:61592874..61595599-chr5:61604099..61606788,3	K562	blood:
3	chr5:61560375..61564102-chr5:61592918..61596892,3	K562	blood:
4	chr5:61591991..61594374-chr5:61603392..61605599,2	K562	blood:

Variant related genes	Relation type
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10051719	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10062387	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10067200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10071537	0.81[ASN][1000 genomes]
rs10074813	0.89[AMR][1000 genomes]
rs10074863	0.92[AMR][1000 genomes]
rs10075026	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10461472	0.81[CHB][hapmap]
rs10471278	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10471543	0.82[AFR][1000 genomes]
rs10471544	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12655269	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12659793	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12659814	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1301064	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap]
rs1301065	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs13155700	0.83[ASN][1000 genomes]
rs13361143	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs13361219	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs149540	0.80[CHD][hapmap]
rs152184	0.80[CHD][hapmap]
rs152186	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.82[ASN][1000 genomes]
rs152191	0.80[CHD][hapmap]
rs152192	0.80[CHD][hapmap]
rs152204	0.82[ASN][1000 genomes]
rs152205	0.82[ASN][1000 genomes]
rs152210	0.83[ASN][1000 genomes]
rs152215	0.80[CHD][hapmap]
rs16890622	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs174647	0.81[CHB][hapmap]
rs1862527	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1995782	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2289883	0.81[CHB][hapmap];0.88[CHD][hapmap]
rs2344395	0.86[ASW][hapmap];0.81[CEU][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes]
rs247225	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs247227	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs247231	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs247233	0.81[CHD][hapmap]
rs247237	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs247240	0.80[CHD][hapmap]
rs247242	0.82[ASN][1000 genomes]
rs247243	0.82[ASN][1000 genomes]
rs247250	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.82[ASN][1000 genomes]
rs247251	0.81[ASN][1000 genomes]
rs247254	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs247259	0.84[ASN][1000 genomes]
rs247262	0.83[ASN][1000 genomes]
rs247264	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs247265	0.81[CHB][hapmap]
rs247266	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs247270	0.83[CHD][hapmap]
rs247479	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs264530	0.85[CHD][hapmap]
rs26635	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs26637	0.80[CHD][hapmap]
rs26642	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs27089	0.81[ASN][1000 genomes]
rs27448	1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap]
rs27693	0.80[CHD][hapmap]
rs27931	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs28589513	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35119	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs35348760	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3822485	0.81[CHB][hapmap];0.90[CHD][hapmap];0.83[ASN][1000 genomes]
rs3846467	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4441833	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs4700006	0.83[ASN][1000 genomes]
rs56049450	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56317447	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6449593	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs6449594	0.81[AMR][1000 genomes]
rs67150497	0.83[ASN][1000 genomes]
rs7702634	0.81[CHB][hapmap]
rs784916	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs959899	0.85[CHD][hapmap]
rs9968583	0.83[ASN][1000 genomes]
rs9968586	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4145851	DIMT1L	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61591400-61597200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr5:61591600-61594000	Enhancers	Placenta	Placenta
3	chr5:61591600-61595600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr5:61591800-61593200	Enhancers	HMEC	breast
5	chr5:61591800-61593600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:61591800-61594000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:61591800-61595200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:61591800-61595200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr5:61591800-61595400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:61591800-61596800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:61592000-61595600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:61592000-61596800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:61592000-61597400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:61592200-61593400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:61592600-61593200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:61592600-61593400	Enhancers	Dnd41	blood
17	chr5:61592600-61595600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:61592800-61593200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr5:61592800-61593200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:61592800-61593200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:61592800-61593200	Enhancers	GM12878-XiMat	blood
22	chr5:61592800-61593600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr5:61592800-61594000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:61592800-61596800	Enhancers	Fetal Thymus	thymus

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