Variant report

Variant	rs56091378
Chromosome Location	chr6:75806384-75806385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:75806188..75808380-chr6:75810669..75812690,2	MCF-7	breast:
2	chr6:75678029..75679624-chr6:75806016..75808705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111799	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10943236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12662022	0.99[ASN][1000 genomes]
rs12662415	0.99[ASN][1000 genomes]
rs12663939	0.98[ASN][1000 genomes]
rs2015242	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2295253	0.98[ASN][1000 genomes]
rs2300795	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2300796	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734191	0.99[ASN][1000 genomes]
rs3765496	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818138	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59737607	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59740803	0.98[ASN][1000 genomes]
rs61656115	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636444	0.86[ASN][1000 genomes]
rs7758152	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9443154	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443156	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9447442	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9447445	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1022377	chr6:75762463-75919592	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv538309	chr6:75762463-75919592	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv830697	chr6:75763095-75915029	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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
5	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats 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
6	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75795200-75808000	Weak transcription	HUVEC	blood vessel
2	chr6:75795200-75811600	Weak transcription	Right Ventricle	heart
3	chr6:75795600-75806800	Weak transcription	Fetal Kidney	kidney
4	chr6:75796600-75808200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:75798000-75807400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:75799800-75808400	Weak transcription	Hela-S3	cervix
7	chr6:75800000-75808000	Weak transcription	Fetal Stomach	stomach
8	chr6:75800200-75808000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:75800400-75808800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:75800400-75815600	Genic enhancers	Osteobl	bone
11	chr6:75800600-75809200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:75801600-75808000	Weak transcription	Fetal Intestine Small	intestine
13	chr6:75802400-75813600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:75803000-75808200	Weak transcription	Fetal Intestine Large	intestine
15	chr6:75804400-75808800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:75804600-75807800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:75804600-75814400	Genic enhancers	NHLF	lung
18	chr6:75804800-75808400	Weak transcription	HMEC	breast
19	chr6:75805000-75806600	Weak transcription	NH-A	brain
20	chr6:75805000-75806600	Weak transcription	NHEK	skin
21	chr6:75805000-75806800	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:75805000-75806800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:75805000-75807800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:75805000-75807800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:75805000-75808000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:75805000-75808000	Weak transcription	Adipose Nuclei	Adipose
27	chr6:75805000-75808000	Weak transcription	Aorta	Aorta
28	chr6:75805000-75808000	Weak transcription	Fetal Lung	lung
29	chr6:75805000-75808000	Weak transcription	Ovary	ovary
30	chr6:75805000-75808000	Strong transcription	HSMM	muscle
31	chr6:75805000-75808000	Weak transcription	HSMMtube	muscle
32	chr6:75805000-75808200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:75805200-75807200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr6:75805200-75808000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:75805600-75806800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:75805600-75807800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:75805800-75806800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:75805800-75806800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:75805800-75806800	Weak transcription	NHDF-Ad	bronchial
40	chr6:75805800-75807000	Strong transcription	Fetal Muscle Leg	muscle
41	chr6:75806000-75806600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:75806000-75806800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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