Variant report

Variant	rs377373850
Chromosome Location	chr12:40500840-40500841
allele	C/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	CTCF	chr12:40500840-40500990	HBMEC	blood vessel:	n/a	n/a
2	MYC	chr12:40500779-40501080	MCF-7	breast:	n/a	n/a
3	MYC	chr12:40500818-40501032	MCF-7	breast:	n/a	n/a
4	CTCF	chr12:40500700-40500850	GM12878	blood:	n/a	n/a
5	STAT3	chr12:40500366-40500843	MCF10A-Er-Src	breast:	n/a	chr12:40500548-40500568 chr12:40500554-40500562 chr12:40500552-40500563 chr12:40500551-40500565
6	KAP1	chr12:40500195-40501769	HEK293	kidney:	n/a	n/a
7	TCF7L2	chr12:40500799-40501717	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:40500694-40501181	MCF-7	breast:	n/a	n/a
9	POLR2A	chr12:40500683-40501171	MCF-7	breast:	n/a	n/a
10	MYC	chr12:40500791-40501128	MCF-7	breast:	n/a	n/a
11	KAP1	chr12:40500753-40501728	U2OS	brain:	n/a	n/a
12	CTCF	chr12:40500840-40500990	AoAF	blood vessel:	n/a	n/a
13	HA-E2F1	chr12:40500814-40501768	MCF-7	breast:	n/a	chr12:40501478-40501493 chr12:40501468-40501482 chr12:40501471-40501485 chr12:40501476-40501483

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40404217..40405558-chr12:40500388..40503110,15	MCF-7	breast:
2	chr12:40413403..40416172-chr12:40500145..40501731,2	K562	blood:

Variant related genes	Relation type
SLC2A13	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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899028	chr12:40478652-40524180	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3436452	chr12:40498510-40501058	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	esv1846566	chr12:40498683-40527395	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv1838306	chr12:40499495-40527395	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40496800-40501600	Active TSS	Brain Cingulate Gyrus	brain
2	chr12:40496800-40501600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:40496800-40501600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:40497000-40501600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:40497000-40501600	Active TSS	Fetal Kidney	kidney
6	chr12:40497200-40502200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:40497400-40501600	Active TSS	Right Atrium	heart
8	chr12:40497800-40501400	Active TSS	Brain Substantia Nigra	brain
9	chr12:40497800-40501400	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr12:40498000-40501600	Active TSS	Ovary	ovary
11	chr12:40498200-40501800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr12:40498200-40501800	Active TSS	NHLF	lung
13	chr12:40498400-40501600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:40498600-40501600	Active TSS	Aorta	Aorta
15	chr12:40498800-40501000	Active TSS	Pancreas	Pancrea
16	chr12:40498800-40501600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:40498800-40501600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:40499000-40501400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:40499000-40501400	Active TSS	Colonic Mucosa	Colon
20	chr12:40499000-40501400	Active TSS	Esophagus	oesophagus
21	chr12:40499000-40501400	Active TSS	Left Ventricle	heart
22	chr12:40499000-40501600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:40499000-40501600	Active TSS	Brain Anterior Caudate	brain
24	chr12:40499000-40501600	Active TSS	Duodenum Mucosa	Duodenum
25	chr12:40499200-40501400	Active TSS	Fetal Muscle Leg	muscle
26	chr12:40499200-40501600	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:40499200-40501600	Active TSS	NH-A	brain
28	chr12:40499800-40501600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:40499800-40501600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:40499800-40501600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:40500000-40501000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:40500000-40501200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr12:40500000-40501200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr12:40500000-40501200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:40500000-40501400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr12:40500000-40501400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr12:40500000-40501400	Flanking Active TSS	Hela-S3	cervix
38	chr12:40500000-40501400	Flanking Active TSS	HMEC	breast
39	chr12:40500000-40501600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr12:40500200-40501000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr12:40500200-40501000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:40500200-40501000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:40500200-40501000	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:40500200-40501000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:40500200-40501000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:40500200-40501000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr12:40500200-40501000	Enhancers	Fetal Stomach	stomach
48	chr12:40500200-40501400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:40500200-40501400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:40500200-40501400	Flanking Active TSS	NHEK	skin

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