Variant report

Variant	rs587700563
Chromosome Location	chr1:120357057-120357058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:120356999-120357267	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr1:120356926-120357249	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:120356024..120358010-chr1:120414554..120416804,2	MCF-7	breast:
2	chr1:120351738..120353782-chr1:120355581..120358346,2	K562	blood:
3	chr1:120351185..120352714-chr1:120356340..120358363,2	MCF-7	breast:

Variant related genes	Relation type
REG4	TF binding region
ENSG00000134193	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv947316	chr1:120355309-120362730	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120351600-120357400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:120352000-120357600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:120354600-120358400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:120354800-120358600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:120355200-120357200	Weak transcription	HepG2	liver
6	chr1:120355600-120358800	Weak transcription	Liver	Liver
7	chr1:120356600-120361200	Enhancers	Fetal Intestine Small	intestine
8	chr1:120356800-120357200	Enhancers	Left Ventricle	heart
9	chr1:120356800-120357400	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:120356800-120358600	Enhancers	Fetal Heart	heart
11	chr1:120356800-120359600	Enhancers	Stomach Mucosa	stomach
12	chr1:120356800-120359800	Enhancers	HMEC	breast
13	chr1:120356800-120361000	Enhancers	Fetal Intestine Large	intestine
14	chr1:120356800-120361200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:120357000-120357200	Bivalent Enhancer	Small Intestine	intestine
16	chr1:120357000-120359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:120357000-120359600	Enhancers	HSMM	muscle
18	chr1:120357000-120359800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:120357000-120359800	Enhancers	NHEK	skin
20	chr1:120357000-120360800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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