Variant report

Variant	rs7970958
Chromosome Location	chr12:32389538-32389539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12296246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297959	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298558	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12307772	0.85[AFR][1000 genomes]
rs12307792	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12308522	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309702	0.91[AFR][1000 genomes]
rs12310014	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312114	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12317181	0.97[AFR][1000 genomes]
rs12317202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319221	0.85[AFR][1000 genomes]
rs16916339	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919521	0.93[AFR][1000 genomes]
rs16919525	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919527	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28427470	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55766406	0.84[EUR][1000 genomes]
rs56007954	0.86[EUR][1000 genomes]
rs56075891	0.82[EUR][1000 genomes]
rs56254678	0.82[EUR][1000 genomes]
rs59032949	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488039	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7134330	0.82[EUR][1000 genomes]
rs7136736	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7136837	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7136969	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7137031	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7137148	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73310707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310709	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310720	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73310734	0.87[AFR][1000 genomes]
rs73310736	0.87[AFR][1000 genomes]
rs73310737	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73310739	0.82[AFR][1000 genomes]
rs7956048	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7957547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962134	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7962447	0.89[AFR][1000 genomes]
rs7971625	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974961	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7977350	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32364200-32390000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:32365000-32390000	Weak transcription	Brain Substantia Nigra	brain
3	chr12:32365000-32390200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:32365600-32391200	Weak transcription	Fetal Brain Male	brain
5	chr12:32370200-32407800	Weak transcription	Hela-S3	cervix
6	chr12:32371000-32389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:32371000-32390000	Weak transcription	HSMMtube	muscle
8	chr12:32371000-32390200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:32371200-32390000	Weak transcription	Aorta	Aorta
10	chr12:32371200-32390000	Weak transcription	Brain Germinal Matrix	brain
11	chr12:32371200-32390000	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:32371200-32390000	Weak transcription	Left Ventricle	heart
13	chr12:32371200-32390000	Weak transcription	Thymus	Thymus
14	chr12:32371200-32390200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:32371200-32393200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:32371200-32393400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:32371200-32406800	Weak transcription	Primary T cells from cord blood	blood
18	chr12:32371600-32389600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:32371600-32390000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:32371600-32390000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:32371600-32390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:32371600-32393000	Weak transcription	NH-A	brain
23	chr12:32371600-32393400	Weak transcription	NHDF-Ad	bronchial
24	chr12:32372200-32389600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:32377400-32390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:32377400-32390200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:32377600-32390200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:32380000-32401000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:32380600-32390000	Weak transcription	Fetal Intestine Small	intestine
30	chr12:32380600-32393200	Weak transcription	Spleen	Spleen
31	chr12:32380800-32390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:32381000-32390000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:32381200-32390000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:32381200-32390000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:32381200-32390200	Weak transcription	Primary B cells from cord blood	blood
36	chr12:32381200-32392800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:32381600-32389600	Weak transcription	HSMM	muscle
38	chr12:32381600-32390200	Weak transcription	Osteobl	bone
39	chr12:32383800-32390200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:32386400-32390000	Weak transcription	Ovary	ovary
41	chr12:32386800-32390000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:32386800-32394000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:32387000-32390200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:32388200-32390200	Weak transcription	Brain Anterior Caudate	brain
45	chr12:32388200-32390600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:32388200-32390600	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:32388400-32390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:32388400-32390200	Weak transcription	Brain Angular Gyrus	brain
49	chr12:32388600-32390200	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:32388800-32390000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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