Variant report

Variant	rs371718393
Chromosome Location	chr12:120804692-120804693
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	chr12:120804419-120805489	A549	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
2	CTCF	chr12:120804645-120806065	SK-N-SH	brain:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
3	ZNF263	chr12:120804575-120805817	HEK293-T-REx	kidney:	n/a	chr12:120805338-120805347 chr12:120805702-120805711 chr12:120804593-120804602 chr12:120804589-120804598

No.	Distal block	Cell Line	Cell type
1	chr12:120801365..120804968-chr12:120812471..120817033,4	K562	blood:
2	chr12:120799434..120804968-chr12:120812300..120816168,6	K562	blood:
3	chr12:120804639..120805497-chr12:120877167..120877760,2	MCF-7	breast:
4	chr12:120801772..120804938-chr12:120832340..120834003,3	MCF-7	breast:
5	chr12:120727901..120731375-chr12:120804063..120807248,3	K562	blood:
6	chr12:120803522..120805721-chr12:120933234..120935368,2	MCF-7	breast:
7	chr12:120727930..120729812-chr12:120802120..120804921,2	MCF-7	breast:
8	chr12:120803547..120806395-chr12:120907093..120909089,2	MCF-7	breast:

Variant related genes	Relation type
RPS27P25	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	esv14211	chr12:120801254-120809932	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv560437	chr12:120803783-120809590	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120796200-120805000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:120800000-120805000	Enhancers	Fetal Intestine Large	intestine
3	chr12:120800200-120805200	Genic enhancers	Fetal Intestine Small	intestine
4	chr12:120800200-120805400	Weak transcription	Ovary	ovary
5	chr12:120800400-120804800	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:120800400-120805000	Weak transcription	Esophagus	oesophagus
7	chr12:120800400-120805600	Weak transcription	Right Atrium	heart
8	chr12:120800800-120805000	Weak transcription	Brain Angular Gyrus	brain
9	chr12:120802200-120805200	Enhancers	Stomach Mucosa	stomach
10	chr12:120802400-120805800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr12:120803000-120805600	Enhancers	Pancreas	Pancrea
12	chr12:120803200-120804800	Enhancers	Brain Hippocampus Middle	brain
13	chr12:120803200-120805000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:120803200-120805600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:120803400-120805200	Enhancers	Brain Anterior Caudate	brain
16	chr12:120803400-120805400	Genic enhancers	Fetal Stomach	stomach
17	chr12:120803400-120806000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:120803600-120804800	Genic enhancers	H1 Cell Line	embryonic stem cell
19	chr12:120803600-120804800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:120803600-120805400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:120803600-120805400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr12:120803600-120805600	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:120803600-120806000	Enhancers	Fetal Brain Male	brain
24	chr12:120803600-120806200	Weak transcription	Lung	lung
25	chr12:120803800-120804800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:120803800-120805000	Weak transcription	Fetal Lung	lung
27	chr12:120804000-120804800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:120804000-120804800	Active TSS	Rectal Smooth Muscle	rectum
29	chr12:120804000-120804800	Enhancers	HepG2	liver
30	chr12:120804000-120804800	Enhancers	NH-A	brain
31	chr12:120804000-120805200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:120804000-120805200	Weak transcription	Fetal Kidney	kidney
33	chr12:120804000-120805800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:120804000-120805800	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr12:120804000-120806000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:120804000-120806000	Enhancers	A549	lung
37	chr12:120804200-120804800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:120804200-120804800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
39	chr12:120804200-120805200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:120804200-120805200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr12:120804200-120805400	Enhancers	Left Ventricle	heart
42	chr12:120804400-120804800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:120804400-120804800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:120804400-120805000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:120804400-120805600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:120804400-120805800	Flanking Active TSS	Fetal Brain Female	brain
47	chr12:120804400-120805800	Enhancers	Fetal Heart	heart
48	chr12:120804400-120805800	Enhancers	Gastric	stomach
49	chr12:120804400-120806000	Enhancers	Brain Substantia Nigra	brain
50	chr12:120804400-120806200	Weak transcription	Liver	Liver

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