Variant report

Variant	rs11941712
Chromosome Location	chr4:54463824-54463825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:54463000..54465216-chr4:54466002..54469031,3	K562	blood:
2	chr4:54460125..54463943-chr4:54465847..54469777,4	MCF-7	breast:
3	chr4:54455903..54460072-chr4:54463217..54466380,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072201	Chromatin interaction
ENSG00000248494	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12186283	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464028	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54457600-54464400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:54459600-54465000	Weak transcription	Osteobl	bone
3	chr4:54459600-54465200	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:54459600-54465200	Weak transcription	Right Ventricle	heart
5	chr4:54459600-54465400	Weak transcription	Left Ventricle	heart
6	chr4:54459600-54467400	Weak transcription	Esophagus	oesophagus
7	chr4:54459600-54467400	Weak transcription	Pancreas	Pancrea
8	chr4:54459600-54467400	Weak transcription	Right Atrium	heart
9	chr4:54459800-54464200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:54459800-54464600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:54459800-54464600	Weak transcription	Stomach Mucosa	stomach
12	chr4:54459800-54467400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:54460000-54465800	Weak transcription	GM12878-XiMat	blood
14	chr4:54460200-54464600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:54460200-54467400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:54460200-54467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:54460200-54467600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:54460800-54464600	Weak transcription	Fetal Intestine Large	intestine
19	chr4:54461400-54467000	Weak transcription	Placenta	Placenta
20	chr4:54462000-54464800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:54462000-54467400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:54462200-54464800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:54462400-54467400	Weak transcription	HMEC	breast
24	chr4:54462600-54465000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:54463400-54465000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:54463800-54471800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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