Variant report

Variant	rs562804386
Chromosome Location	chr12:9276367-9276368
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:9275846-9276435	SK-N-SH	brain:	n/a	n/a
2	ARID3A	chr12:9275966-9276528	HepG2	liver:	n/a	n/a
3	EP300	chr12:9275920-9276398	Hela-S3	cervix:	n/a	n/a
4	GATA3	chr12:9275929-9276479	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr12:9275982-9276655	Hela-S3	cervix:	n/a	n/a
6	RCOR1	chr12:9276031-9276533	Hela-S3	cervix:	n/a	n/a
7	PRDM1	chr12:9275982-9276550	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9265907..9267822-chr12:9274659..9276392,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000211542	TF binding region
ENSG00000256937	TF binding region

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:48 , 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	chr12:9269400-9276400	Weak transcription	Right Ventricle	heart
8	chr12:9270000-9278800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:9270200-9289000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:9271200-9276800	Weak transcription	Psoas Muscle	Psoas
11	chr12:9271200-9276800	Weak transcription	Spleen	Spleen
12	chr12:9271800-9280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:9272000-9289000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:9272200-9280200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:9272200-9282400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:9273800-9277000	Weak transcription	Left Ventricle	heart
17	chr12:9274000-9276800	Weak transcription	Lung	lung
18	chr12:9274200-9277600	Enhancers	Hela-S3	cervix
19	chr12:9275000-9276600	Active TSS	Aorta	Aorta
20	chr12:9275000-9287400	Weak transcription	Gastric	stomach
21	chr12:9275200-9276800	Weak transcription	Fetal Intestine Small	intestine
22	chr12:9275400-9279400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:9275600-9277800	Enhancers	HepG2	liver
24	chr12:9275800-9276400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:9275800-9276400	Enhancers	Brain Angular Gyrus	brain
26	chr12:9275800-9276800	Active TSS	Brain Hippocampus Middle	brain
27	chr12:9275800-9277000	Active TSS	Right Atrium	heart
28	chr12:9275800-9278000	Flanking Active TSS	Liver	Liver
29	chr12:9276000-9276400	Flanking Active TSS	Fetal Lung	lung
30	chr12:9276000-9276400	Enhancers	HUVEC	blood vessel
31	chr12:9276000-9276800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr12:9276000-9276800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:9276000-9276800	Active TSS	NHLF	lung
34	chr12:9276000-9277000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:9276000-9277400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr12:9276000-9278000	Enhancers	Fetal Stomach	stomach
37	chr12:9276200-9276600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr12:9276200-9276600	Active TSS	Brain Anterior Caudate	brain
39	chr12:9276200-9276600	Active TSS	Brain Cingulate Gyrus	brain
40	chr12:9276200-9276600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr12:9276200-9276600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:9276200-9276600	Active TSS	Colon Smooth Muscle	Colon
43	chr12:9276200-9276600	Active TSS	Ovary	ovary
44	chr12:9276200-9276600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:9276200-9276600	Enhancers	HMEC	breast
46	chr12:9276200-9277000	Active TSS	Brain Substantia Nigra	brain
47	chr12:9276200-9277000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:9276200-9277000	Active TSS	Stomach Smooth Muscle	stomach

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