Variant report

Variant	rs12655707
Chromosome Location	chr5:177559163-177559164
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
2	chr5:177556214..177559808-chr5:177575521..177582645,10	K562	blood:
3	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:
4	chr5:177556060..177559207-chr5:177571980..177574313,5	K562	blood:
5	chr5:177556823..177560281-chr5:177564764..177567288,3	K562	blood:
6	chr5:177559160..177561147-chr5:177631498..177633135,2	MCF-7	breast:
7	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:
8	chr5:176923371..176925329-chr5:177557854..177560543,2	MCF-7	breast:
9	chr5:177558100..177560422-chr6:27113137..27116043,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145916	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000265565	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10035478	0.84[EUR][1000 genomes]
rs10040895	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10060446	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13155699	0.82[ASN][1000 genomes]
rs13163671	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13165989	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13175750	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13180226	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13185763	0.83[ASN][1000 genomes]
rs13436876	0.84[EUR][1000 genomes]
rs34093388	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34343747	0.83[ASN][1000 genomes]
rs34353050	0.85[ASN][1000 genomes]
rs35027513	0.81[EUR][1000 genomes]
rs35433113	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35598853	0.85[ASN][1000 genomes]
rs36087128	0.82[EUR][1000 genomes]
rs36090803	0.83[ASN][1000 genomes]
rs3812073	0.88[ASN][1000 genomes]
rs3812077	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3812080	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3924305	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4637566	0.84[EUR][1000 genomes]
rs6601217	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6873523	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6876480	0.83[AMR][1000 genomes]
rs7447860	0.84[EUR][1000 genomes]
rs7716409	0.82[ASN][1000 genomes]
rs7716860	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7733574	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
3	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
5	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
9	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv3424416	chr5:177556571-177559319	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177556800-177559600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:177557200-177559200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:177557200-177559200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:177557200-177559200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr5:177557200-177559200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr5:177557200-177559200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:177557200-177559600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:177557400-177559200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr5:177557400-177559200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:177557400-177559400	Active TSS	Esophagus	oesophagus
11	chr5:177557800-177559600	Active TSS	Colonic Mucosa	Colon
12	chr5:177558200-177559200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr5:177558400-177559200	Flanking Active TSS	Dnd41	blood
14	chr5:177558400-177559600	Enhancers	Spleen	Spleen
15	chr5:177558600-177559200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:177558600-177559200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:177558600-177559200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177558600-177559200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:177558600-177559200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:177558600-177559200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr5:177558600-177559200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:177558600-177559200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:177558600-177559200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:177558600-177559200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr5:177558600-177559200	Flanking Active TSS	Liver	Liver
26	chr5:177558600-177559200	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr5:177558600-177559200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:177558600-177559200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr5:177558600-177559200	Flanking Active TSS	Pancreas	Pancrea
30	chr5:177558600-177559200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr5:177558600-177559200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr5:177558600-177559200	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr5:177558600-177559200	Flanking Active TSS	GM12878-XiMat	blood
34	chr5:177558600-177559200	Flanking Active TSS	Hela-S3	cervix
35	chr5:177558600-177559200	Flanking Active TSS	HMEC	breast
36	chr5:177558600-177559200	Flanking Active TSS	NHLF	lung
37	chr5:177558600-177559800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr5:177558800-177559200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:177558800-177559200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:177558800-177559200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr5:177558800-177559200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:177558800-177559200	Enhancers	Primary B cells from peripheral blood	blood
43	chr5:177558800-177559200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr5:177558800-177559200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr5:177558800-177559200	Flanking Active TSS	Right Ventricle	heart
46	chr5:177558800-177559200	Flanking Active TSS	HepG2	liver
47	chr5:177558800-177559200	Flanking Active TSS	K562	blood
48	chr5:177558800-177559600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:177558800-177559600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr5:177558800-177559800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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