Variant report

Variant	rs7974961
Chromosome Location	chr12:32390612-32390613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10128975	0.84[ASN][1000 genomes]
rs12296246	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12297959	1.00[EUR][1000 genomes]
rs12298558	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307772	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12307792	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308522	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12309702	0.85[AFR][1000 genomes]
rs12310014	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12310030	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12312114	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317181	0.90[AFR][1000 genomes]
rs12317202	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12319221	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs16916339	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919488	0.93[ASN][1000 genomes]
rs16919490	0.93[ASN][1000 genomes]
rs16919495	0.84[ASN][1000 genomes]
rs16919521	0.85[AFR][1000 genomes]
rs16919525	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919527	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28427470	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55766406	0.88[EUR][1000 genomes]
rs55953521	0.93[ASN][1000 genomes]
rs56007954	0.91[EUR][1000 genomes]
rs56075891	0.86[EUR][1000 genomes]
rs56082138	0.93[ASN][1000 genomes]
rs56254678	0.86[EUR][1000 genomes]
rs57844656	0.93[ASN][1000 genomes]
rs58587004	0.93[ASN][1000 genomes]
rs58801621	0.82[EUR][1000 genomes]
rs59032949	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60062551	0.93[ASN][1000 genomes]
rs6488039	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134330	0.86[EUR][1000 genomes]
rs7136736	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136837	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136969	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137031	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137148	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137554	0.85[AFR][1000 genomes]
rs7312077	0.93[ASN][1000 genomes]
rs73310707	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73310709	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73310720	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310734	0.94[AFR][1000 genomes]
rs73310736	0.94[AFR][1000 genomes]
rs73310737	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310739	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs74072020	0.93[ASN][1000 genomes]
rs74072021	0.93[ASN][1000 genomes]
rs7956048	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957547	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7959439	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7962134	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962447	0.80[AFR][1000 genomes]
rs7970958	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7971625	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977350	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
7	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv541454	chr12:32371080-32401245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32365600-32391200	Weak transcription	Fetal Brain Male	brain
2	chr12:32370200-32407800	Weak transcription	Hela-S3	cervix
3	chr12:32371200-32393200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:32371200-32393400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:32371200-32406800	Weak transcription	Primary T cells from cord blood	blood
6	chr12:32371600-32393000	Weak transcription	NH-A	brain
7	chr12:32371600-32393400	Weak transcription	NHDF-Ad	bronchial
8	chr12:32380000-32401000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:32380600-32393200	Weak transcription	Spleen	Spleen
10	chr12:32381200-32392800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:32386800-32394000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:32389200-32391000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr12:32389400-32390800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:32389400-32391000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:32389400-32391000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr12:32389400-32391200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:32389600-32391000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:32389600-32391600	Strong transcription	HSMM	muscle
19	chr12:32390000-32390800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:32390000-32390800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:32390000-32390800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:32390000-32390800	ZNF genes & repeats	Aorta	Aorta
23	chr12:32390000-32390800	ZNF genes & repeats	Ovary	ovary
24	chr12:32390000-32391200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:32390000-32391200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:32390000-32391200	ZNF genes & repeats	Fetal Brain Female	brain
27	chr12:32390000-32391600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr12:32390200-32390800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr12:32390200-32390800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:32390200-32390800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:32390200-32390800	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr12:32390200-32390800	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr12:32390200-32390800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
34	chr12:32390200-32391200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr12:32390200-32391200	ZNF genes & repeats	Osteobl	bone
36	chr12:32390400-32390800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:32390400-32391200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
38	chr12:32390400-32397200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:32390600-32391000	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:32390600-32391400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:32390600-32391600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:32390600-32393200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:32390600-32393200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:32390600-32393400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:32390600-32393400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:32390600-32393400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:32390600-32394000	Weak transcription	Brain Germinal Matrix	brain
48	chr12:32390600-32399600	Weak transcription	Dnd41	blood
49	chr12:32390600-32400600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:32390600-32402400	Weak transcription	HSMMtube	muscle

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