Variant report

Variant	rs7313432
Chromosome Location	chr12:32572269-32572270
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: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1055876	0.81[ASN][1000 genomes]
rs11051969	0.81[ASN][1000 genomes]
rs11051973	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051975	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051976	0.86[ASN][1000 genomes]
rs11051985	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051986	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051987	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051988	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051989	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051991	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051992	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11052001	0.83[EUR][1000 genomes]
rs11052002	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12227991	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12228004	0.82[ASN][1000 genomes]
rs12229856	0.81[ASN][1000 genomes]
rs1809913	0.83[EUR][1000 genomes]
rs2389035	0.80[EUR][1000 genomes]
rs2728674	0.83[EUR][1000 genomes]
rs2728683	0.81[EUR][1000 genomes]
rs2728684	0.82[EUR][1000 genomes]
rs2728709	0.91[EUR][1000 genomes]
rs2958117	0.82[EUR][1000 genomes]
rs4931013	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4931623	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56670459	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6488050	0.81[ASN][1000 genomes]
rs7132235	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7297381	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73084099	0.82[ASN][1000 genomes]
rs73084101	0.88[ASN][1000 genomes]
rs73086036	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73086040	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73088096	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7309706	0.82[ASN][1000 genomes]
rs904917	0.83[EUR][1000 genomes]
rs950081	0.83[EUR][1000 genomes]
rs950082	0.83[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32553400-32572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:32553600-32572600	Weak transcription	Esophagus	oesophagus
3	chr12:32554200-32573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:32554600-32572400	Weak transcription	Fetal Intestine Large	intestine
5	chr12:32554600-32593200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:32559800-32572400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:32571200-32572600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:32571200-32573400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:32571200-32573400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:32571200-32573400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:32571200-32573400	Enhancers	Placenta	Placenta
12	chr12:32571200-32573600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:32571400-32572800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:32571400-32572800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:32571400-32572800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:32571400-32573000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr12:32571400-32573200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:32571400-32573400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:32571400-32573400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:32571400-32573400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr12:32571400-32573400	Enhancers	Stomach Mucosa	stomach
22	chr12:32571600-32572600	Strong transcription	Fetal Intestine Small	intestine
23	chr12:32571600-32572800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:32571600-32573200	Enhancers	HMEC	breast
25	chr12:32571600-32573400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:32571600-32573400	Enhancers	Adipose Nuclei	Adipose
27	chr12:32571600-32573400	Enhancers	Left Ventricle	heart
28	chr12:32571600-32573400	Enhancers	Pancreas	Pancrea
29	chr12:32571600-32573600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:32571600-32573600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr12:32571600-32573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:32571600-32573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:32571600-32573800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:32571600-32574800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:32571600-32576800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:32571800-32572400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:32571800-32572800	Enhancers	Liver	Liver
38	chr12:32571800-32573000	Enhancers	Ovary	ovary
39	chr12:32571800-32573000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr12:32571800-32573200	Enhancers	Lung	lung
41	chr12:32571800-32573200	Enhancers	Right Atrium	heart
42	chr12:32571800-32573400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr12:32571800-32574200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:32572000-32572600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr12:32572000-32572600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:32572000-32572800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:32572000-32573200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:32572000-32573400	Enhancers	Duodenum Mucosa	Duodenum
49	chr12:32572000-32573400	Enhancers	A549	lung
50	chr12:32572000-32573600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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