Variant report

Variant	rs376751100
Chromosome Location	chr12:123641967-123641968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123635735..123637727-chr12:123641892..123644139,3	MCF-7	breast:
2	chr12:123639375..123642354-chr12:123646005..123648367,2	K562	blood:
3	chr12:123634522..123637208-chr12:123639726..123642249,4	K562	blood:
4	chr12:123634064..123637299-chr12:123639365..123644376,5	K562	blood:
5	chr12:123637836..123642861-chr12:123644495..123649304,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000051825	Chromatin interaction
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
9	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123636400-123644600	Weak transcription	GM12878-XiMat	blood
2	chr12:123636400-123648000	Weak transcription	Fetal Kidney	kidney
3	chr12:123636400-123649000	Weak transcription	Small Intestine	intestine
4	chr12:123636400-123649200	Weak transcription	Brain Angular Gyrus	brain
5	chr12:123636400-123649800	Weak transcription	Ovary	ovary
6	chr12:123636400-123650200	Weak transcription	Aorta	Aorta
7	chr12:123636600-123644600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:123636600-123644800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:123636600-123644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:123636600-123645000	Weak transcription	NH-A	brain
11	chr12:123636600-123645200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:123636600-123645200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:123636600-123645200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:123636600-123647000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:123636600-123647000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:123636600-123647400	Weak transcription	HMEC	breast
17	chr12:123636600-123647600	Weak transcription	NHEK	skin
18	chr12:123636600-123648400	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:123636600-123648400	Weak transcription	HSMMtube	muscle
20	chr12:123636600-123660800	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:123636600-123676200	Weak transcription	Gastric	stomach
22	chr12:123636600-123716600	Weak transcription	Esophagus	oesophagus
23	chr12:123636800-123643200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:123636800-123644200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:123636800-123645200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:123636800-123645200	Weak transcription	NHDF-Ad	bronchial
27	chr12:123636800-123646200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:123636800-123646400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:123636800-123647200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:123636800-123647400	Weak transcription	Placenta	Placenta
31	chr12:123636800-123647800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:123636800-123648000	Weak transcription	Brain Anterior Caudate	brain
33	chr12:123636800-123649000	Weak transcription	Right Ventricle	heart
34	chr12:123636800-123649200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:123636800-123649200	Weak transcription	Fetal Intestine Large	intestine
36	chr12:123636800-123650200	Weak transcription	Brain Substantia Nigra	brain
37	chr12:123636800-123675200	Weak transcription	Fetal Heart	heart
38	chr12:123636800-123679600	Weak transcription	Colonic Mucosa	Colon
39	chr12:123636800-123687400	Weak transcription	Psoas Muscle	Psoas
40	chr12:123637000-123642600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:123637000-123644000	Weak transcription	Hela-S3	cervix
42	chr12:123637000-123644200	Weak transcription	Adipose Nuclei	Adipose
43	chr12:123637000-123644800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:123637000-123645000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:123637000-123645000	Weak transcription	Fetal Brain Male	brain
46	chr12:123637000-123645000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:123637000-123645200	Weak transcription	Fetal Lung	lung
48	chr12:123637000-123647000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:123637000-123647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:123637000-123648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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