Variant report

Variant	rs181663538
Chromosome Location	chr12:9275400-9275401
allele	A/T
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	MYBL2	chr12:9274426-9275428	HepG2	liver:	n/a	n/a
2	NFIC	chr12:9274226-9275493	HepG2	liver:	n/a	n/a
3	FOXA2	chr12:9274233-9275861	HepG2	liver:	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
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	chr12:9269200-9275800	Weak transcription	Brain Angular Gyrus	brain
6	chr12:9269200-9280400	Weak transcription	Primary T cells from cord blood	blood
7	chr12:9269200-9281800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:9269400-9276000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:9269400-9276400	Weak transcription	Right Ventricle	heart
10	chr12:9269800-9276000	Weak transcription	Brain Anterior Caudate	brain
11	chr12:9270000-9276000	Weak transcription	Fetal Stomach	stomach
12	chr12:9270000-9278800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:9270200-9289000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:9271000-9276000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:9271000-9276200	Weak transcription	Ovary	ovary
16	chr12:9271200-9275800	Weak transcription	Right Atrium	heart
17	chr12:9271200-9276800	Weak transcription	Psoas Muscle	Psoas
18	chr12:9271200-9276800	Weak transcription	Spleen	Spleen
19	chr12:9271600-9276000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:9271800-9276200	Weak transcription	HMEC	breast
21	chr12:9271800-9280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:9272000-9289000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:9272200-9276000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:9272200-9280200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:9272200-9282400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:9272800-9276000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:9272800-9276200	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:9273400-9276200	Weak transcription	Adipose Nuclei	Adipose
29	chr12:9273800-9277000	Weak transcription	Left Ventricle	heart
30	chr12:9274000-9276800	Weak transcription	Lung	lung
31	chr12:9274200-9277600	Enhancers	Hela-S3	cervix
32	chr12:9274600-9275400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:9274600-9275400	Enhancers	HepG2	liver
34	chr12:9274600-9275800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr12:9275000-9275800	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:9275000-9276000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:9275000-9276600	Active TSS	Aorta	Aorta
38	chr12:9275000-9287400	Weak transcription	Gastric	stomach
39	chr12:9275200-9275400	Enhancers	Liver	Liver
40	chr12:9275200-9275600	Weak transcription	Fetal Kidney	kidney
41	chr12:9275200-9276000	Weak transcription	Brain Substantia Nigra	brain
42	chr12:9275200-9276000	Enhancers	Fetal Lung	lung
43	chr12:9275200-9276000	Weak transcription	NHLF	lung
44	chr12:9275200-9276800	Weak transcription	Fetal Intestine Small	intestine
45	chr12:9275400-9275600	Flanking Active TSS	Liver	Liver
46	chr12:9275400-9275600	Weak transcription	HepG2	liver
47	chr12:9275400-9275800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:9275400-9279400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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