Variant report

Variant	rs7133663
Chromosome Location	chr12:32686320-32686321
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32684229..32686702-chr12:32690075..32692767,2	K562	blood:

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

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

rs_ID	r²[population]
rs57318963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7312178	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301595	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303511	1.00[AMR][1000 genomes]
rs73303524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303600	1.00[AMR][1000 genomes]
rs73305519	1.00[AMR][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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32668800-32686600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:32669800-32687000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:32676000-32686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:32676200-32687000	Weak transcription	Left Ventricle	heart
6	chr12:32676200-32687000	Weak transcription	Right Ventricle	heart
7	chr12:32676200-32688000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:32676400-32686600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:32676400-32686800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:32676600-32686600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:32678400-32687000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:32678800-32686800	Weak transcription	HMEC	breast
13	chr12:32680400-32687000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:32681600-32688200	Weak transcription	Esophagus	oesophagus
15	chr12:32682400-32686400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:32683200-32687000	Enhancers	Liver	Liver
17	chr12:32683200-32688600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:32683400-32686600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:32683600-32688800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:32684400-32686800	Enhancers	HepG2	liver
21	chr12:32684400-32688600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:32684600-32687000	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:32684800-32686800	Enhancers	Fetal Intestine Large	intestine
24	chr12:32684800-32687000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:32685000-32686600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:32685000-32687000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:32685200-32686800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:32685200-32686800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr12:32685200-32687000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr12:32685400-32686400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:32685400-32686800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:32685400-32686800	Enhancers	HSMM	muscle
33	chr12:32685400-32687200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:32685400-32688800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:32685600-32686800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:32685600-32686800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:32685600-32686800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:32685600-32686800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:32685600-32686800	Enhancers	HUVEC	blood vessel
40	chr12:32685600-32687000	Enhancers	Fetal Intestine Small	intestine
41	chr12:32685600-32687000	Enhancers	NHDF-Ad	bronchial
42	chr12:32685600-32688400	Weak transcription	Primary T cells from cord blood	blood
43	chr12:32685800-32686400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:32685800-32686400	Enhancers	Fetal Thymus	thymus
45	chr12:32685800-32686400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr12:32685800-32686400	Enhancers	NHLF	lung
47	chr12:32685800-32686600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:32685800-32686600	Enhancers	Pancreas	Pancrea
49	chr12:32685800-32686600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr12:32685800-32686600	Enhancers	Small Intestine	intestine

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