Variant report

Variant	rs145301346
Chromosome Location	chr22:31744844-31744845
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr22:31744829-31745030	K562	blood:	n/a	n/a
2	POLR2A	chr22:31744579-31745185	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:31744707-31745102	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr22:31744765-31745209	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr22:31744529-31745435	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr22:31744813-31745172	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr22:31744774-31745554	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr22:31744743-31745420	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
2	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
3	chr10:74033244..74035559-chr22:31742440..31745127,2	MCF-7	breast:
4	chr22:31741223..31743821-chr22:31744774..31746588,4	K562	blood:
5	chr22:31696471..31699232-chr22:31743755..31746050,2	MCF-7	breast:

No data

Variant related genes	Relation type
PATZ1	TF binding region
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000185721	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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31744000-31745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:31744000-31745000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:31744000-31745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:31744000-31745800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr22:31744000-31746000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:31744000-31746000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr22:31744000-31746200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31744000-31746200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:31744000-31746200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr22:31744000-31746200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:31744000-31746200	Weak transcription	A549	lung
12	chr22:31744000-31746600	Weak transcription	Fetal Lung	lung
13	chr22:31744000-31762200	Weak transcription	Right Atrium	heart
14	chr22:31744200-31745000	Weak transcription	Colon Smooth Muscle	Colon
15	chr22:31744200-31745000	Enhancers	Dnd41	blood
16	chr22:31744200-31745000	Enhancers	HepG2	liver
17	chr22:31744200-31745800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:31744200-31746000	Weak transcription	HSMMtube	muscle
19	chr22:31744200-31746400	Weak transcription	Liver	Liver
20	chr22:31744200-31746400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:31744200-31746400	Weak transcription	Fetal Heart	heart
22	chr22:31744200-31746400	Weak transcription	Fetal Stomach	stomach
23	chr22:31744200-31746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:31744200-31748400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:31744200-31750400	Weak transcription	Spleen	Spleen
26	chr22:31744600-31745000	Enhancers	Colonic Mucosa	Colon
27	chr22:31744800-31745000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:31744800-31745000	Enhancers	Pancreas	Pancrea
29	chr22:31744800-31745200	Enhancers	H9 Cell Line	embryonic stem cell

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