Variant report

Variant	rs59695096
Chromosome Location	chr6:45498337-45498338
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	chr6:45495679..45498360-chr6:45500683..45502256,2	MCF-7	breast:
2	chr6:45495193..45499204-chr6:45499654..45504200,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11498194	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1319069	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55910744	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56146601	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61243460	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400363	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62400366	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62400367	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62400368	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400369	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62400374	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62400375	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62400376	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62400377	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62400378	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1019561	chr6:45485826-45535222	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv538214	chr6:45485826-45535222	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45465000-45521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:45479000-45500000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:45481000-45500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:45481400-45500200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:45481400-45514600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:45482000-45500000	Weak transcription	NHDF-Ad	bronchial
7	chr6:45482600-45500200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:45482600-45503600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:45482800-45514800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:45484400-45509400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:45484400-45514600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:45488400-45499600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:45488800-45499200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:45488800-45500000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:45489000-45504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:45489000-45521800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:45489800-45500000	Weak transcription	Fetal Lung	lung
18	chr6:45490400-45500000	Weak transcription	HSMMtube	muscle
19	chr6:45491600-45505400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:45492200-45499800	Weak transcription	Osteobl	bone
21	chr6:45492400-45502000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:45492600-45502200	Weak transcription	NH-A	brain
23	chr6:45493000-45500000	Weak transcription	Stomach Mucosa	stomach
24	chr6:45493200-45516200	Weak transcription	Hela-S3	cervix
25	chr6:45494400-45498600	Strong transcription	Dnd41	blood
26	chr6:45494400-45499600	Strong transcription	HSMM	muscle
27	chr6:45494600-45499000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:45496000-45500000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:45496600-45498600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:45496600-45499600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr6:45496600-45500200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:45496600-45503400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr6:45496800-45500000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:45497000-45499800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:45497400-45506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:45498000-45498600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:45498000-45507800	Weak transcription	Fetal Thymus	thymus
38	chr6:45498200-45498600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:45498200-45499000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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