Variant report

Variant	rs2117599
Chromosome Location	chr4:54465287-54465288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54456205..54457854-chr4:54464547..54466581,2	MCF-7	breast:
2	chr4:54455903..54460072-chr4:54463217..54466380,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248494	Chromatin interaction
ENSG00000072201	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17083188	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv437918	chr4:54451175-54483569	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54459600-54465400	Weak transcription	Left Ventricle	heart
2	chr4:54459600-54467400	Weak transcription	Esophagus	oesophagus
3	chr4:54459600-54467400	Weak transcription	Pancreas	Pancrea
4	chr4:54459600-54467400	Weak transcription	Right Atrium	heart
5	chr4:54459800-54467400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:54460000-54465800	Weak transcription	GM12878-XiMat	blood
7	chr4:54460200-54467400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:54460200-54467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:54460200-54467600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:54461400-54467000	Weak transcription	Placenta	Placenta
11	chr4:54462000-54467400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:54462400-54467400	Weak transcription	HMEC	breast
13	chr4:54463800-54471800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:54464400-54465600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:54464600-54465400	Enhancers	Stomach Mucosa	stomach
16	chr4:54464600-54466000	Enhancers	Fetal Intestine Small	intestine
17	chr4:54464600-54466000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr4:54464600-54466200	Enhancers	Fetal Intestine Large	intestine
19	chr4:54464800-54465600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:54464800-54465800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:54465000-54465400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:54465000-54465400	Enhancers	Osteobl	bone
23	chr4:54465000-54465600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:54465200-54465400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:54465200-54465600	Enhancers	Right Ventricle	heart
26	chr4:54465200-54466000	Enhancers	Fetal Lung	lung
27	chr4:54465200-54466800	Enhancers	Fetal Muscle Leg	muscle

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