Variant report

Variant	rs544243838
Chromosome Location	chr1:185818570-185818571
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	chr1:185816758..185818830-chr1:185820154..185822881,2	MCF-7	breast:
2	chr1:185818279..185821165-chr1:185821421..185823779,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv946547	chr1:185818492-185821818	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185803200-185850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185813400-185819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:185813400-185821600	Weak transcription	Aorta	Aorta
4	chr1:185813400-185839000	Weak transcription	Fetal Lung	lung
5	chr1:185813800-185819400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:185816400-185819600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:185816600-185819600	Weak transcription	NH-A	brain
8	chr1:185816600-185819600	Weak transcription	NHLF	lung
9	chr1:185816800-185819200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:185816800-185819400	Weak transcription	NHDF-Ad	bronchial
11	chr1:185816800-185819600	Weak transcription	Osteobl	bone
12	chr1:185816800-185823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:185817400-185818600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr1:185817400-185820600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:185817400-185821200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:185817600-185818800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:185817600-185819800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:185817600-185820400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:185817600-185821000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:185817600-185821000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:185817600-185821000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:185818000-185818600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:185818000-185820400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:185818000-185821400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:185818200-185818600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:185818200-185818600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:185818200-185818800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:185818200-185818800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:185818200-185820000	Enhancers	HMEC	breast
30	chr1:185818200-185820200	Enhancers	NHEK	skin
31	chr1:185818400-185818600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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