Variant report

Variant	rs376472843
Chromosome Location	chr12:122458402-122458403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122458392-122458462	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
2	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
3	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
4	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
5	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
6	chr12:122236856..122239163-chr12:122456320..122458969,2	K562	blood:
7	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
8	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:

No data

Variant related genes	Relation type
BCL7A	TF binding region
ENSG00000255856	TF binding region
ENSG00000175727	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000212694	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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv3338715	chr12:122457569-122462467	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
2	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
4	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
5	chr12:122444600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:122454800-122459000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122455600-122458800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:122456400-122458800	Weak transcription	Pancreas	Pancrea
9	chr12:122456600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:122456800-122458800	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:122457000-122458600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:122457800-122458800	Enhancers	Primary B cells from cord blood	blood
13	chr12:122457800-122458800	Weak transcription	K562	blood
14	chr12:122458000-122458600	Enhancers	Fetal Thymus	thymus
15	chr12:122458000-122458600	Enhancers	Thymus	Thymus
16	chr12:122458400-122458600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:122458400-122458600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:122458400-122458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:122458400-122458600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:122458400-122458600	Enhancers	NHEK	skin
21	chr12:122458400-122458800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr12:122458400-122459000	Enhancers	Fetal Brain Male	brain
23	chr12:122458400-122459400	Flanking Active TSS	Dnd41	blood

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