Variant report

Variant	rs534053642
Chromosome Location	chr12:120805454-120805455
allele	A/G
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	POLR2A	chr12:120805050-120806131	H1-hESC	embryonic stem cell:	n/a	n/a
2	KAP1	chr12:120804916-120805551	U2OS	brain:	n/a	n/a
3	SIN3A	chr12:120804888-120806061	H1-hESC	embryonic stem cell:	n/a	chr12:120805153-120805161
4	POLR2A	chr12:120804891-120806315	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr12:120805056-120805546	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:120804419-120805489	A549	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
7	CTCF	chr12:120804645-120806065	SK-N-SH	brain:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
8	ZNF143	chr12:120804922-120805462	H1-hESC	embryonic stem cell:	n/a	chr12:120805123-120805133
9	RAD21	chr12:120804869-120805629	H1-hESC	embryonic stem cell:	n/a	chr12:120805124-120805136 chr12:120805041-120805054 chr12:120805042-120805052 chr12:120805126-120805136 chr12:120805126-120805140 chr12:120805122-120805141
10	ZNF263	chr12:120804575-120805817	HEK293-T-REx	kidney:	n/a	chr12:120805338-120805347 chr12:120805702-120805711 chr12:120804593-120804602 chr12:120804589-120804598
11	JUND	chr12:120805003-120805535	H1-hESC	embryonic stem cell:	n/a	chr12:120805467-120805478 chr12:120805468-120805476 chr12:120805466-120805478
12	MAX	chr12:120805411-120806101	H1-hESC	embryonic stem cell:	n/a	chr12:120805948-120805958

No.	Distal block	Cell Line	Cell type
1	chr12:120795985..120796800-chr12:120804726..120805531,3	MCF-7	breast:
2	chr12:120804639..120805497-chr12:120877167..120877760,2	MCF-7	breast:
3	chr12:120728393..120731711-chr12:120805239..120807118,3	MCF-7	breast:
4	chr12:120727901..120731375-chr12:120804063..120807248,3	K562	blood:
5	chr12:120803522..120805721-chr12:120933234..120935368,2	MCF-7	breast:
6	chr12:120794069..120794978-chr12:120804760..120805597,2	MCF-7	breast:
7	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
ENSG00000202538	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000111786	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3323244	chr12:120805194-120807742	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120800400-120805600	Weak transcription	Right Atrium	heart
2	chr12:120802400-120805800	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr12:120803000-120805600	Enhancers	Pancreas	Pancrea
4	chr12:120803200-120805600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:120803400-120806000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:120803600-120805600	Enhancers	Brain Cingulate Gyrus	brain
7	chr12:120803600-120806000	Enhancers	Fetal Brain Male	brain
8	chr12:120803600-120806200	Weak transcription	Lung	lung
9	chr12:120804000-120805800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:120804000-120805800	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr12:120804000-120806000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:120804000-120806000	Enhancers	A549	lung
13	chr12:120804400-120805600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:120804400-120805800	Flanking Active TSS	Fetal Brain Female	brain
15	chr12:120804400-120805800	Enhancers	Fetal Heart	heart
16	chr12:120804400-120805800	Enhancers	Gastric	stomach
17	chr12:120804400-120806000	Enhancers	Brain Substantia Nigra	brain
18	chr12:120804400-120806200	Weak transcription	Liver	Liver
19	chr12:120804600-120805600	Enhancers	Right Ventricle	heart
20	chr12:120804600-120805800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:120804800-120805600	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr12:120804800-120805600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr12:120804800-120805600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
24	chr12:120804800-120805800	Bivalent Enhancer	HepG2	liver
25	chr12:120804800-120806000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr12:120804800-120807800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:120804800-120807800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr12:120805000-120805600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:120805000-120805600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:120805000-120805600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:120805000-120805600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:120805000-120805600	Bivalent Enhancer	Brain Angular Gyrus	brain
33	chr12:120805000-120805600	Enhancers	Fetal Lung	lung
34	chr12:120805000-120805600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr12:120805000-120805800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:120805000-120806000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:120805000-120807800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:120805000-120808000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:120805200-120805600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
40	chr12:120805200-120805600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr12:120805200-120805600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr12:120805200-120805800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
43	chr12:120805200-120805800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:120805200-120805800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
45	chr12:120805200-120805800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
46	chr12:120805200-120806000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:120805200-120806000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr12:120805200-120806000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr12:120805200-120806000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
50	chr12:120805200-120806000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine

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