Variant report

Variant	rs56262267
Chromosome Location	chr12:32571148-32571149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32521160..32523381-chr12:32570318..32572312,2	MCF-7	breast:
2	chr12:32551367..32553605-chr12:32570827..32573292,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139132	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1055875	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs191257	1.00[ASN][1000 genomes]
rs325433	1.00[ASN][1000 genomes]
rs325434	1.00[ASN][1000 genomes]
rs325435	1.00[ASN][1000 genomes]
rs35919769	1.00[ASN][1000 genomes]
rs56141196	1.00[ASN][1000 genomes]
rs56149636	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56253344	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977216	0.85[EUR][1000 genomes]

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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv469346	chr12:32531220-32587465	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558188	chr12:32531220-32587465	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv469347	chr12:32555846-32602079	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv558189	chr12:32555846-32602079	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32553400-32572200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:32553400-32572200	Weak transcription	HSMMtube	muscle
3	chr12:32553400-32572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:32553600-32572600	Weak transcription	Esophagus	oesophagus
5	chr12:32553800-32571600	Weak transcription	Left Ventricle	heart
6	chr12:32554000-32572200	Weak transcription	Right Ventricle	heart
7	chr12:32554200-32571800	Weak transcription	Ovary	ovary
8	chr12:32554200-32573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:32554600-32572400	Weak transcription	Fetal Intestine Large	intestine
10	chr12:32554600-32593200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:32555400-32571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:32555400-32572000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:32555600-32571400	Weak transcription	Lung	lung
14	chr12:32556000-32571800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:32556400-32571600	Weak transcription	HMEC	breast
16	chr12:32557400-32571200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:32559200-32571200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:32559800-32572400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:32560600-32571400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:32562000-32571400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:32563000-32571400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:32563000-32571600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:32563800-32571200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:32563800-32571600	Weak transcription	Pancreas	Pancrea
25	chr12:32563800-32571600	Weak transcription	NHEK	skin
26	chr12:32564000-32571400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:32564000-32571600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:32564800-32571200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:32565000-32571400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:32565000-32571600	Weak transcription	Fetal Intestine Small	intestine
31	chr12:32566600-32571400	Weak transcription	Gastric	stomach
32	chr12:32566800-32571400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:32566800-32571600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:32566800-32571800	Weak transcription	Right Atrium	heart
35	chr12:32566800-32571800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:32570200-32571400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:32570800-32571200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:32570800-32571400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:32571000-32571400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:32571000-32571400	Weak transcription	Stomach Mucosa	stomach

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