Variant report

Variant	rs193060281
Chromosome Location	chr1:113997498-113997499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:109616898..109618683-chr1:113996110..113997630,2	MCF-7	breast:
2	chr1:113996993..113999884-chr3:64478745..64481492,2	MCF-7	breast:
3	chr1:113995710..113997522-chr1:113998226..113999728,2	MCF-7	breast:
4	chr1:113992312..113994525-chr1:113996440..113998587,2	K562	blood:
5	chr1:113931751..113937304-chr1:113991927..113997733,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197780	Chromatin interaction
ENSG00000081026	Chromatin interaction
ENSG00000232499	Chromatin interaction

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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv3444669	chr1:113995959-114038884	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113985000-113999000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:113994800-114004400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:113995400-113998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:113995400-113999000	Weak transcription	Stomach Mucosa	stomach
5	chr1:113995400-113999800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:113995600-113999200	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:113995600-113999600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:113995600-114002400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:113995600-114003200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:113995800-113999200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:113996400-113997800	Weak transcription	HUVEC	blood vessel
12	chr1:113996400-113999000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:113996400-113999000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:113996600-113997600	Weak transcription	A549	lung
15	chr1:113996600-113998200	Weak transcription	Hela-S3	cervix
16	chr1:113996600-113999000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:113996600-113999000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:113996600-113999000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:113996600-113999400	Weak transcription	Liver	Liver
20	chr1:113996600-114001200	Weak transcription	Small Intestine	intestine
21	chr1:113996600-114005800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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