Variant report

Variant	rs594188
Chromosome Location	chr11:63570562-63570563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63570205..63572019-chr11:63580900..63582897,2	MCF-7	breast:
2	chr11:63568932..63571893-chr11:63593228..63594762,2	MCF-7	breast:
3	chr11:63568859..63571826-chr11:63579605..63584324,5	K562	blood:
4	chr11:63535611..63537592-chr11:63569044..63572004,3	MCF-7	breast:
5	chr10:38145568..38146527-chr11:63570146..63570678,2	Hela-S3	cervix:
6	chr11:63534835..63538239-chr11:63570214..63572925,3	MCF-7	breast:
7	chr11:63569863..63570705-chr11:63580756..63581280,2	Hela-S3	cervix:
8	chr11:63569529..63574543-chr11:63580305..63583483,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198105	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2959879	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs480464	1.00[AFR][1000 genomes]
rs551839	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118198	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3413647	chr11:63550425-63582789	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63565000-63573800	Weak transcription	Right Atrium	heart
2	chr11:63567600-63580000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:63569600-63575800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:63569800-63571400	Flanking Active TSS	Hela-S3	cervix
5	chr11:63569800-63575000	Enhancers	Placenta	Placenta
6	chr11:63570000-63571200	Enhancers	HMEC	breast
7	chr11:63570000-63571800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr11:63570200-63570600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:63570200-63570600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:63570200-63570800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:63570200-63570800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:63570200-63570800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:63570200-63570800	Enhancers	HepG2	liver
14	chr11:63570200-63570800	Flanking Active TSS	NHEK	skin
15	chr11:63570200-63571000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:63570200-63571000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:63570200-63571000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:63570200-63571000	Flanking Active TSS	A549	lung
19	chr11:63570200-63571000	Enhancers	HSMMtube	muscle
20	chr11:63570200-63571000	Enhancers	NHDF-Ad	bronchial
21	chr11:63570200-63571200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:63570200-63571200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:63570200-63571200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:63570200-63571200	Enhancers	HSMM	muscle
25	chr11:63570200-63571200	Enhancers	K562	blood
26	chr11:63570200-63572200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:63570200-63572600	Enhancers	Fetal Intestine Small	intestine
28	chr11:63570200-63576800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:63570400-63570600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:63570400-63570600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr11:63570400-63570600	Enhancers	Brain Germinal Matrix	brain
32	chr11:63570400-63570600	Enhancers	Fetal Kidney	kidney
33	chr11:63570400-63570600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr11:63570400-63570800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:63570400-63570800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:63570400-63570800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr11:63570400-63570800	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:63570400-63570800	Flanking Active TSS	Osteobl	bone
39	chr11:63570400-63571000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:63570400-63571200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:63570400-63571200	Enhancers	NHLF	lung
42	chr11:63570400-63572000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:63570400-63572400	Enhancers	Fetal Intestine Large	intestine
44	chr11:63570400-63572400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:63570400-63572600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:63570400-63572800	Enhancers	Placenta Amnion	Placenta Amnion

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