Variant report

Variant	rs551719010
Chromosome Location	chr12:118502951-118502952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:118502257-118503647	PANC-1	pancreas:	n/a	n/a
2	CTCF	chr12:118502900-118503050	AG04450	lung:	n/a	n/a
3	POLR2A	chr12:118501451-118503879	K562	blood:	n/a	n/a
4	POLR2A	chr12:118502607-118503159	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr12:118502851-118503156	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr12:118502860-118503010	GM12873	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118500782..118503248-chr12:118527475..118529536,2	K562	blood:
2	chr12:118497611..118502023-chr12:118502151..118506801,7	MCF-7	breast:
3	chr12:118321239..118322907-chr12:118502124..118504651,2	MCF-7	breast:
4	chr12:118453669..118455926-chr12:118502791..118505038,2	K562	blood:
5	chr12:118497809..118500285-chr12:118500321..118504066,7	MCF-7	breast:
6	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:

No data

Variant related genes	Relation type
WSB2	TF binding region
ENSG00000176834	Chromatin interaction
ENSG00000111445	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118500400-118507800	Weak transcription	Lung	lung
2	chr12:118500400-118515400	Weak transcription	Gastric	stomach
3	chr12:118500400-118516800	Weak transcription	Spleen	Spleen
4	chr12:118500600-118503200	Enhancers	Stomach Mucosa	stomach
5	chr12:118500600-118504000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:118500600-118535200	Weak transcription	Brain Substantia Nigra	brain
7	chr12:118500800-118503600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:118500800-118503800	Enhancers	Primary B cells from cord blood	blood
9	chr12:118500800-118503800	Weak transcription	HSMM	muscle
10	chr12:118500800-118504000	Enhancers	Dnd41	blood
11	chr12:118500800-118511000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:118500800-118515400	Weak transcription	Esophagus	oesophagus
13	chr12:118500800-118518200	Weak transcription	Left Ventricle	heart
14	chr12:118500800-118526400	Weak transcription	HMEC	breast
15	chr12:118500800-118539600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:118500800-118539800	Weak transcription	Right Ventricle	heart
17	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:118501000-118503800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:118501000-118503800	Enhancers	K562	blood
20	chr12:118501000-118504200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:118501000-118508600	Weak transcription	NHDF-Ad	bronchial
22	chr12:118501000-118514400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:118501000-118515000	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:118501000-118515200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:118501000-118515400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:118501000-118515400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:118501000-118516400	Weak transcription	Colonic Mucosa	Colon
28	chr12:118501000-118517200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:118501000-118525600	Weak transcription	Fetal Brain Female	brain
30	chr12:118501000-118527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:118501000-118530600	Weak transcription	Brain Angular Gyrus	brain
32	chr12:118501000-118533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:118501000-118539600	Weak transcription	Psoas Muscle	Psoas
34	chr12:118501000-118540200	Weak transcription	HUVEC	blood vessel
35	chr12:118501000-118540800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:118501000-118540800	Weak transcription	NH-A	brain
37	chr12:118501200-118503200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:118501200-118503200	Enhancers	Fetal Intestine Small	intestine
39	chr12:118501200-118503800	Enhancers	Fetal Intestine Large	intestine
40	chr12:118501200-118506200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:118501200-118508400	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:118501200-118510400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:118501200-118511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:118501200-118511400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:118501200-118514400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:118501200-118515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:118501200-118516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:118501200-118526400	Weak transcription	Small Intestine	intestine
49	chr12:118501200-118536000	Weak transcription	Right Atrium	heart
50	chr12:118501200-118540400	Weak transcription	Brain Germinal Matrix	brain

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