Variant report

Variant	rs562767991
Chromosome Location	chr12:9276885-9276886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	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
3	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
4	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
5	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
6	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
7	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
8	nsv976735	chr12:9274937-9303290	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:9269000-9277400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:9269000-9280400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:9269000-9319200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:9269200-9280400	Weak transcription	Primary T cells from cord blood	blood
6	chr12:9269200-9281800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:9270000-9278800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:9270200-9289000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:9271800-9280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:9272000-9289000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:9272200-9280200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:9272200-9282400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:9273800-9277000	Weak transcription	Left Ventricle	heart
14	chr12:9274200-9277600	Enhancers	Hela-S3	cervix
15	chr12:9275000-9287400	Weak transcription	Gastric	stomach
16	chr12:9275400-9279400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:9275600-9277800	Enhancers	HepG2	liver
18	chr12:9275800-9277000	Active TSS	Right Atrium	heart
19	chr12:9275800-9278000	Flanking Active TSS	Liver	Liver
20	chr12:9276000-9277000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:9276000-9277400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr12:9276000-9278000	Enhancers	Fetal Stomach	stomach
23	chr12:9276200-9277000	Active TSS	Brain Substantia Nigra	brain
24	chr12:9276200-9277000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:9276200-9277000	Active TSS	Stomach Smooth Muscle	stomach
26	chr12:9276400-9277400	Active TSS	Rectal Smooth Muscle	rectum
27	chr12:9276400-9277400	Enhancers	Right Ventricle	heart
28	chr12:9276400-9277600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:9276400-9278000	Enhancers	Fetal Lung	lung
30	chr12:9276600-9277000	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:9276600-9277400	Enhancers	Ovary	ovary
32	chr12:9276600-9277600	Enhancers	Adipose Nuclei	Adipose
33	chr12:9276600-9277800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:9276600-9278400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:9276800-9277000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:9276800-9277000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr12:9276800-9277000	Enhancers	Fetal Intestine Small	intestine
38	chr12:9276800-9277000	Flanking Active TSS	NHLF	lung
39	chr12:9276800-9277200	Enhancers	Fetal Muscle Trunk	muscle
40	chr12:9276800-9277200	Enhancers	Spleen	Spleen
41	chr12:9276800-9277600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr12:9276800-9277600	Enhancers	Placenta	Placenta
43	chr12:9276800-9277600	Enhancers	Lung	lung
44	chr12:9276800-9277800	Enhancers	Psoas Muscle	Psoas
45	chr12:9276800-9279000	Weak transcription	Brain Hippocampus Middle	brain

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