Variant report

Variant	rs547395048
Chromosome Location	chr1:59194267-59194268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59192672..59194770-chr1:59244784..59246788,2	MCF-7	breast:
2	chr1:59191433..59194290-chr1:59244978..59247044,2	K562	blood:
3	chr1:59194152..59196031-chr1:59196369..59198347,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2572403	chr1:59193389-59196585	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv3438149	chr1:59194264-59197912	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59183400-59197600	Weak transcription	Aorta	Aorta
2	chr1:59189800-59194400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:59190200-59194400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:59191200-59194400	Enhancers	HMEC	breast
5	chr1:59191800-59194400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:59191800-59194400	Enhancers	HUVEC	blood vessel
7	chr1:59192200-59194400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:59192400-59194400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:59192400-59194400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:59192400-59194400	Enhancers	HSMM	muscle
11	chr1:59192400-59194400	Enhancers	NHEK	skin
12	chr1:59192600-59194400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:59192600-59204200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:59192800-59194400	Enhancers	Hela-S3	cervix
15	chr1:59192800-59194400	Enhancers	HepG2	liver
16	chr1:59193000-59194400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:59193000-59194400	Enhancers	NHLF	lung
18	chr1:59193600-59194400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:59193600-59197800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:59193600-59200200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:59193800-59197400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:59193800-59197400	Weak transcription	Osteobl	bone
23	chr1:59193800-59197600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:59193800-59197600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:59194200-59194400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:59194200-59194400	Flanking Active TSS	NHDF-Ad	bronchial

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