Variant report

Variant	rs181676419
Chromosome Location	chr1:59059593-59059594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59059553..59061890-chr1:59075340..59077312,2	MCF-7	breast:
2	chr1:59041326..59044486-chr1:59056548..59059729,7	MCF-7	breast:
3	chr1:59049910..59054215-chr1:59054903..59060265,8	MCF-7	breast:
4	chr1:59058111..59061332-chr1:59083852..59086894,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184292	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3320043	chr1:59059499-59060049	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3350148	chr1:59059502-59060022	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3521751	chr1:59059547-59059981	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv5120	chr1:59059555-59060120	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3320041	chr1:59059557-59060023	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3320038	chr1:59059558-59060015	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3320039	chr1:59059573-59059969	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3521754	chr1:59059575-59059981	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3521753	chr1:59059575-59059991	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59051200-59063400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:59055000-59060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:59057000-59059600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:59057200-59059600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:59057800-59059600	Enhancers	NHLF	lung
6	chr1:59058000-59062200	Weak transcription	Esophagus	oesophagus
7	chr1:59058400-59059600	Enhancers	HSMMtube	muscle
8	chr1:59058600-59060000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:59058600-59062800	Weak transcription	Right Ventricle	heart
10	chr1:59058800-59060000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:59058800-59060000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:59058800-59060000	Weak transcription	Spleen	Spleen
13	chr1:59058800-59062000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:59058800-59062200	Weak transcription	Adipose Nuclei	Adipose
15	chr1:59058800-59062200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:59058800-59062400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:59058800-59062400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:59058800-59062600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:59058800-59062600	Weak transcription	Right Atrium	heart
20	chr1:59058800-59062800	Weak transcription	Aorta	Aorta
21	chr1:59058800-59063200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:59059000-59059600	Genic enhancers	HUVEC	blood vessel
23	chr1:59059000-59059600	Genic enhancers	NHEK	skin
24	chr1:59059000-59062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:59059200-59060000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:59059200-59062000	Weak transcription	HSMM	muscle
27	chr1:59059200-59062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:59059200-59062600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:59059200-59062600	Weak transcription	Osteobl	bone
30	chr1:59059200-59062800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:59059400-59060000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:59059400-59060600	Weak transcription	NHDF-Ad	bronchial
33	chr1:59059400-59060800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:59059400-59062400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:59059400-59062400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:59059400-59062400	Weak transcription	Ovary	ovary
37	chr1:59059400-59062400	Weak transcription	HMEC	breast

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