Variant report

Variant	rs188112380
Chromosome Location	chr12:123320705-123320706
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
2	chr12:123318894..123320705-chr12:123342894..123344549,3	MCF-7	breast:
3	chr12:123257747..123262116-chr12:123318149..123321331,4	MCF-7	breast:
4	chr12:123318760..123321217-chr12:123449684..123452450,2	K562	blood:
5	chr12:123318632..123320877-chr12:123355595..123357643,2	MCF-7	breast:
6	chr12:123319192..123322007-chr12:123336993..123339222,2	MCF-7	breast:
7	chr12:123237061..123238610-chr12:123318389..123320839,2	MCF-7	breast:
8	chr12:123318837..123320791-chr12:123463752..123466824,3	MCF-7	breast:
9	chr12:123318920..123320804-chr12:123431971..123434703,2	MCF-7	breast:
10	chr12:123319135..123321319-chr3:160936978..160939441,2	MCF-7	breast:
11	chr12:123318440..123320805-chr12:123633475..123636263,2	MCF-7	breast:
12	chr12:123319262..123321924-chr12:123450152..123453465,3	K562	blood:
13	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
14	chr12:123319497..123321053-chr12:123333768..123335476,2	K562	blood:
15	chr12:123320203..123322846-chr12:123716653..123718204,2	MCF-7	breast:
16	chr12:123320093..123322586-chr12:123715495..123717565,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182196	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000139722	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000169251	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000130783	Chromatin interaction
ENSG00000256152	Chromatin interaction
ENSG00000139726	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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	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
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3373177	chr12:123318824-123321872	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv3360797	chr12:123318974-123321472	Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	esv3321940	chr12:123319399-123321597	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123318800-123321000	Active TSS	Brain Cingulate Gyrus	brain
2	chr12:123318800-123321200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:123318800-123321200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:123318800-123321600	Active TSS	Brain Hippocampus Middle	brain
5	chr12:123318800-123321600	Active TSS	Ovary	ovary
6	chr12:123318800-123321600	Active TSS	Stomach Smooth Muscle	stomach
7	chr12:123318800-123322400	Active TSS	Brain Angular Gyrus	brain
8	chr12:123318800-123322400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:123319000-123321000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:123319000-123321000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:123319000-123321400	Active TSS	Brain Anterior Caudate	brain
12	chr12:123319000-123321600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr12:123319000-123321600	Active TSS	Left Ventricle	heart
14	chr12:123319000-123321600	Active TSS	Right Ventricle	heart
15	chr12:123319000-123321800	Active TSS	Right Atrium	heart
16	chr12:123319000-123322000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr12:123319200-123320800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:123319200-123320800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:123319200-123321000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:123319200-123321000	Active TSS	Fetal Brain Female	brain
21	chr12:123319200-123321200	Active TSS	NHDF-Ad	bronchial
22	chr12:123319200-123321400	Active TSS	Gastric	stomach
23	chr12:123319200-123321600	Active TSS	Esophagus	oesophagus
24	chr12:123319200-123321600	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr12:123319200-123321800	Active TSS	Aorta	Aorta
26	chr12:123319200-123321800	Active TSS	Brain Substantia Nigra	brain
27	chr12:123319400-123321000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:123319600-123320800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:123319600-123320800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:123319600-123320800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr12:123319600-123320800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:123319600-123320800	Active TSS	Colon Smooth Muscle	Colon
33	chr12:123319600-123320800	Weak transcription	Fetal Brain Male	brain
34	chr12:123319600-123320800	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr12:123319600-123320800	Active TSS	HSMM	muscle
36	chr12:123319600-123320800	Active TSS	K562	blood
37	chr12:123319600-123320800	Active TSS	NH-A	brain
38	chr12:123319600-123320800	Active TSS	NHLF	lung
39	chr12:123319600-123320800	Active TSS	Osteobl	bone
40	chr12:123319600-123321000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:123319600-123321000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr12:123319600-123321000	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:123319600-123321000	Active TSS	A549	lung
44	chr12:123319600-123321000	Active TSS	Hela-S3	cervix
45	chr12:123319600-123321000	Active TSS	HUVEC	blood vessel
46	chr12:123319600-123321000	Active TSS	NHEK	skin
47	chr12:123319600-123321200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:123319600-123321200	Active TSS	Primary T cells from cord blood	blood
49	chr12:123319600-123321200	Active TSS	Thymus	Thymus
50	chr12:123319600-123321200	Active TSS	Spleen	Spleen

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