Variant report

Variant	rs34656493
Chromosome Location	chr12:9270408-9270409
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12426061	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12427063	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2111023	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55924716	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61916012	0.87[AMR][1000 genomes];0.88[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	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
5	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9243000-9274800	Weak transcription	Small Intestine	intestine
2	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:9266200-9270800	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:9266200-9274800	Weak transcription	Gastric	stomach
5	chr12:9266400-9270800	Active TSS	Aorta	Aorta
6	chr12:9267800-9272200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:9268200-9271800	Enhancers	HMEC	breast
8	chr12:9268200-9272200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:9268400-9270600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:9268400-9270800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:9268400-9271000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:9268400-9271800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:9268400-9274400	Weak transcription	Fetal Intestine Large	intestine
14	chr12:9268600-9271000	Enhancers	Primary B cells from cord blood	blood
15	chr12:9268800-9271000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:9268800-9271000	Weak transcription	Fetal Thymus	thymus
17	chr12:9268800-9271600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:9269000-9270800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:9269000-9270800	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:9269000-9271200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:9269000-9271600	Enhancers	NHLF	lung
22	chr12:9269000-9277400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:9269000-9280400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:9269000-9319200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:9269200-9270800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:9269200-9270800	Weak transcription	GM12878-XiMat	blood
27	chr12:9269200-9271000	Enhancers	Liver	Liver
28	chr12:9269200-9271000	Weak transcription	HSMMtube	muscle
29	chr12:9269200-9275800	Weak transcription	Brain Angular Gyrus	brain
30	chr12:9269200-9280400	Weak transcription	Primary T cells from cord blood	blood
31	chr12:9269200-9281800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:9269400-9270600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:9269400-9270800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:9269400-9271000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:9269400-9271000	Enhancers	Ovary	ovary
36	chr12:9269400-9271200	Enhancers	Psoas Muscle	Psoas
37	chr12:9269400-9273400	Enhancers	Adipose Nuclei	Adipose
38	chr12:9269400-9274800	Weak transcription	Brain Substantia Nigra	brain
39	chr12:9269400-9276000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:9269400-9276400	Weak transcription	Right Ventricle	heart
41	chr12:9269800-9270800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:9269800-9274400	Enhancers	HepG2	liver
43	chr12:9269800-9276000	Weak transcription	Brain Anterior Caudate	brain
44	chr12:9270000-9270800	Weak transcription	Right Atrium	heart
45	chr12:9270000-9271200	Enhancers	Left Ventricle	heart
46	chr12:9270000-9271600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:9270000-9272800	Enhancers	Colon Smooth Muscle	Colon
48	chr12:9270000-9276000	Weak transcription	Fetal Stomach	stomach
49	chr12:9270000-9278800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:9270200-9270600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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