Variant report

Variant	rs7132461
Chromosome Location	chr12:32610592-32610593
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	chr12:32609072..32611806-chr12:32903576..32905395,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11052024	0.85[AMR][1000 genomes]
rs12304759	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12315721	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12820579	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2651364	1.00[CEU][hapmap];0.87[MEX][hapmap]
rs2728667	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2859602	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32601800-32629400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:32602600-32636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:32605000-32610800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:32606000-32623600	Weak transcription	Pancreas	Pancrea
6	chr12:32606000-32624600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:32606000-32624600	Weak transcription	Gastric	stomach
8	chr12:32606400-32612600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:32606600-32610600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:32606600-32616600	Weak transcription	Left Ventricle	heart
11	chr12:32606600-32624600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:32606800-32610600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:32607400-32611200	Enhancers	HSMM	muscle
14	chr12:32607400-32615200	Weak transcription	Aorta	Aorta
15	chr12:32607800-32610800	Flanking Active TSS	HUVEC	blood vessel
16	chr12:32608600-32610800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:32608600-32629600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:32608800-32610800	Enhancers	Primary B cells from cord blood	blood
19	chr12:32608800-32610800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr12:32608800-32611400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:32609000-32610800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:32609000-32611400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:32609000-32617000	Weak transcription	Ovary	ovary
24	chr12:32609200-32610600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:32609200-32610600	Enhancers	NHDF-Ad	bronchial
26	chr12:32609200-32610800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:32609200-32610800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:32609200-32610800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:32609200-32610800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:32609200-32610800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:32609200-32610800	Enhancers	Brain Substantia Nigra	brain
32	chr12:32609200-32610800	Enhancers	Fetal Heart	heart
33	chr12:32609200-32610800	Enhancers	NH-A	brain
34	chr12:32609200-32610800	Enhancers	NHEK	skin
35	chr12:32609200-32610800	Enhancers	Osteobl	bone
36	chr12:32609200-32611200	Weak transcription	Right Atrium	heart
37	chr12:32609200-32611200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:32609200-32613800	Weak transcription	HepG2	liver
39	chr12:32609200-32615200	Weak transcription	Psoas Muscle	Psoas
40	chr12:32609200-32619600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:32609400-32610600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:32609400-32610600	Enhancers	Adipose Nuclei	Adipose
43	chr12:32609400-32610600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:32609400-32610800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:32609400-32610800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:32609400-32610800	Enhancers	Liver	Liver
47	chr12:32609400-32611400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:32609400-32611400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:32609400-32611400	Enhancers	HMEC	breast
50	chr12:32609400-32615200	Weak transcription	Right Ventricle	heart

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