Variant report

Variant	rs7966521
Chromosome Location	chr12:32689217-32689218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10506092	0.87[CHD][hapmap];1.00[MEX][hapmap]
rs16919947	0.81[ASW][hapmap];0.86[CHD][hapmap]
rs16919969	0.81[ASW][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap]
rs16920000	0.82[AFR][1000 genomes]
rs1875311	0.81[ASW][hapmap];0.87[CHD][hapmap]
rs7315682	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7966860	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7967302	0.91[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7967334	0.98[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:96 , 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	chr12:32686200-32690200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:32686200-32692400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:32686400-32690000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:32686600-32689600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:32686600-32690200	Weak transcription	Small Intestine	intestine
7	chr12:32686600-32691000	Active TSS	Ovary	ovary
8	chr12:32686800-32689600	Flanking Active TSS	HUVEC	blood vessel
9	chr12:32687000-32689400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:32687000-32689400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr12:32687000-32689400	Active TSS	Aorta	Aorta
12	chr12:32687000-32689400	Active TSS	HSMMtube	muscle
13	chr12:32687000-32689400	Active TSS	NHLF	lung
14	chr12:32687000-32689600	Enhancers	Dnd41	blood
15	chr12:32687000-32689800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:32687000-32690200	Active TSS	HSMM	muscle
17	chr12:32687800-32689600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:32687800-32694800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:32688000-32689600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:32688000-32689600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:32688200-32689600	Enhancers	Thymus	Thymus
22	chr12:32688400-32689400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:32688400-32689400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:32688400-32689400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:32688400-32689600	Enhancers	HMEC	breast
26	chr12:32688400-32690200	Weak transcription	Brain Angular Gyrus	brain
27	chr12:32688400-32690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:32688400-32693000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:32688400-32693200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:32688400-32701600	Weak transcription	Spleen	Spleen
31	chr12:32688600-32689400	Weak transcription	Fetal Thymus	thymus
32	chr12:32688600-32689600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:32688600-32689600	Enhancers	Hela-S3	cervix
34	chr12:32688600-32689800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:32688600-32689800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:32688600-32690000	Weak transcription	Lung	lung
37	chr12:32688600-32690200	Weak transcription	Left Ventricle	heart
38	chr12:32688600-32690200	Weak transcription	Pancreas	Pancrea
39	chr12:32688600-32690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:32688600-32690600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:32688600-32690600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr12:32688600-32692600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:32688600-32694200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:32688600-32697800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:32688600-32702600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:32688800-32689400	Weak transcription	Psoas Muscle	Psoas
47	chr12:32688800-32689600	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:32688800-32689600	Enhancers	Fetal Lung	lung
49	chr12:32688800-32689800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:32688800-32689800	Enhancers	Brain Cingulate Gyrus	brain

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