Variant report

Variant	rs4697759
Chromosome Location	chr4:10591991-10591992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1004325	0.85[MEX][hapmap];0.86[TSI][hapmap]
rs10938855	0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11936679	0.92[EUR][1000 genomes]
rs11938495	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11938610	0.83[EUR][1000 genomes]
rs12650414	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17383137	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17467602	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17467609	0.92[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1966375	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1989245	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1990272	0.87[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2011545	0.86[TSI][hapmap]
rs2014303	0.92[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2079685	0.86[TSI][hapmap]
rs2098057	0.85[TSI][hapmap]
rs2302170	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2531194	0.85[TSI][hapmap]
rs2720352	0.88[TSI][hapmap]
rs2720354	0.88[TSI][hapmap]
rs2720371	0.85[TSI][hapmap]
rs2720372	0.85[TSI][hapmap]
rs2869470	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2904113	0.92[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs35783374	0.95[EUR][1000 genomes]
rs41340151	0.82[CHB][hapmap]
rs56325310	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61495782	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61795106	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61795107	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6448095	0.82[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6816045	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6818298	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6819450	0.92[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6840081	0.82[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6848730	0.80[TSI][hapmap]
rs6852503	0.82[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs6853762	0.84[CEU][hapmap]
rs73228220	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73228224	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs763677	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs7657440	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7665577	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7674488	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7683820	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7685040	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7685227	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs978591	0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
4	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
5	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
6	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
7	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
8	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
9	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
10	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
11	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
12	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
13	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
14	nsv593727	chr4:10397327-10694991	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv517971	chr4:10399068-10893253	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv878694	chr4:10407572-10783606	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv878697	chr4:10501373-10831866	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv878698	chr4:10536544-10632404	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4697759	CCDC96	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10588400-10592800	Enhancers	Dnd41	blood
2	chr4:10588600-10592400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:10588600-10592400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:10588800-10592000	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:10588800-10592200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:10588800-10592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:10588800-10592800	Enhancers	Primary T cells from cord blood	blood
8	chr4:10588800-10592800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr4:10589000-10592200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:10589200-10592400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr4:10589400-10592400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr4:10590600-10592600	Enhancers	Thymus	Thymus
13	chr4:10590600-10593000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:10590800-10592000	Weak transcription	Osteobl	bone
15	chr4:10590800-10592200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr4:10590800-10592400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:10590800-10592800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:10590800-10593400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:10591000-10592200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr4:10591000-10593200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:10591000-10593200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:10591000-10593200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:10591000-10593200	Enhancers	NH-A	brain
24	chr4:10591000-10593400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:10591400-10592200	Enhancers	Primary B cells from cord blood	blood
26	chr4:10591400-10592200	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:10591400-10592800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:10591400-10592800	Enhancers	Fetal Thymus	thymus
29	chr4:10591400-10593200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:10591400-10593200	Enhancers	NHLF	lung
31	chr4:10591400-10595000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:10591600-10592600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:10591600-10593200	Enhancers	HSMM	muscle
34	chr4:10591800-10592600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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