Variant report

Variant	rs7692480
Chromosome Location	chr4:48675355-48675356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48674728..48678488-chr4:48678619..48683185,5	K562	blood:
2	chr4:48648727..48651631-chr4:48674696..48676832,2	K562	blood:
3	chr4:48673422..48675692-chr4:48679955..48681969,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10029425	1.00[AMR][1000 genomes]
rs10034207	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10049760	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10755182	1.00[AMR][1000 genomes]
rs10805171	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10805172	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs10938535	1.00[AMR][1000 genomes]
rs10938538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10938539	1.00[AMR][1000 genomes]
rs10938541	1.00[AMR][1000 genomes]
rs12500224	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12500244	1.00[AMR][1000 genomes]
rs12507475	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12507546	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13125379	1.00[AMR][1000 genomes]
rs1474072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1517673	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1517676	1.00[AMR][1000 genomes]
rs1517677	1.00[AMR][1000 genomes]
rs1533511	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1554257	1.00[AMR][1000 genomes]
rs1616561	1.00[AMR][1000 genomes]
rs1702796	1.00[AMR][1000 genomes]
rs1702799	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1712762	1.00[YRI][hapmap]
rs1712771	1.00[AMR][1000 genomes]
rs1949422	1.00[AMR][1000 genomes]
rs2138866	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2138867	1.00[AMR][1000 genomes]
rs2354939	0.85[YRI][hapmap]
rs2572342	0.82[YRI][hapmap]
rs28371079	1.00[AMR][1000 genomes]
rs2883410	1.00[AMR][1000 genomes]
rs2940319	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4235155	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs4235157	1.00[AMR][1000 genomes]
rs4235159	0.96[AFR][1000 genomes]
rs4330326	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4558842	1.00[AMR][1000 genomes]
rs4694896	1.00[AMR][1000 genomes]
rs4694898	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4694903	1.00[AMR][1000 genomes]
rs4695385	1.00[AMR][1000 genomes]
rs4695386	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4695390	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4695402	1.00[AMR][1000 genomes]
rs4695403	1.00[AMR][1000 genomes]
rs4695405	1.00[AMR][1000 genomes]
rs4695406	0.82[YRI][hapmap]
rs4998005	1.00[AMR][1000 genomes]
rs6447642	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6447643	1.00[YRI][hapmap]
rs6447654	1.00[AMR][1000 genomes]
rs6447656	1.00[AMR][1000 genomes]
rs6447657	1.00[AMR][1000 genomes]
rs6821456	1.00[AMR][1000 genomes]
rs6823351	1.00[AMR][1000 genomes]
rs6827481	1.00[AMR][1000 genomes]
rs6828500	1.00[AMR][1000 genomes]
rs6835757	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6839713	1.00[YRI][hapmap]
rs6844088	1.00[AMR][1000 genomes]
rs6846797	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848222	1.00[AMR][1000 genomes]
rs6848417	1.00[AMR][1000 genomes]
rs6849798	1.00[AMR][1000 genomes]
rs6853876	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs707720	1.00[AMR][1000 genomes]
rs7434721	1.00[AMR][1000 genomes]
rs7664507	1.00[AMR][1000 genomes]
rs7689293	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7689662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7698064	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs776581	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs776583	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776587	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776589	1.00[AMR][1000 genomes]
rs776595	0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776603	1.00[AMR][1000 genomes]
rs938791	1.00[AMR][1000 genomes]
rs9994214	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9997932	1.00[AMR][1000 genomes]
rs9998178	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:48645200-48679400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:48655800-48685600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:48656600-48680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:48657400-48686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:48657400-48688600	Weak transcription	Brain Angular Gyrus	brain
8	chr4:48657600-48688600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:48663600-48700200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:48664400-48683200	Weak transcription	Ovary	ovary
11	chr4:48665000-48677600	Weak transcription	Fetal Stomach	stomach
12	chr4:48666400-48683200	Weak transcription	Pancreas	Pancrea
13	chr4:48666600-48685600	Weak transcription	Dnd41	blood
14	chr4:48666600-48686800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:48668200-48676000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:48668200-48676800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:48668200-48683000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:48668200-48686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:48668200-48688000	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:48668200-48689400	Weak transcription	HSMM	muscle
21	chr4:48669400-48683000	Weak transcription	Primary T cells from cord blood	blood
22	chr4:48670000-48691000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:48670200-48700000	Weak transcription	Esophagus	oesophagus
24	chr4:48670200-48702000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:48670200-48702000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:48670400-48696000	Weak transcription	Left Ventricle	heart
27	chr4:48670600-48679600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:48670800-48683000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:48671000-48680000	Weak transcription	Small Intestine	intestine
30	chr4:48671000-48683000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:48671200-48685400	Weak transcription	Fetal Thymus	thymus
32	chr4:48671200-48688600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:48671400-48675600	Weak transcription	Stomach Mucosa	stomach
34	chr4:48671400-48677000	Weak transcription	Fetal Intestine Small	intestine
35	chr4:48671400-48678000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:48671400-48682800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:48671400-48683000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:48671400-48683200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:48671400-48685800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:48671400-48686200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr4:48671400-48686400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:48671400-48696000	Weak transcription	Right Ventricle	heart
43	chr4:48671600-48677000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:48671600-48677000	Weak transcription	Colonic Mucosa	Colon
45	chr4:48671600-48685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:48672000-48681400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:48672200-48686400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:48673000-48686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:48673200-48677000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:48674200-48676200	Genic enhancers	Rectal Mucosa Donor 31	rectum

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