Variant report

Variant	rs371089385
Chromosome Location	chr2:32233934-32233935
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	FOS	chr2:32233725-32234039	MCF10A-Er-Src	breast:	n/a	chr2:32233899-32233906 chr2:32233897-32233906 chr2:32233896-32233907 chr2:32233897-32233907
2	FOS	chr2:32233725-32234203	MCF10A-Er-Src	breast:	n/a	chr2:32233899-32233906 chr2:32233897-32233906 chr2:32233896-32233907 chr2:32233897-32233907
3	MXI1	chr2:32233666-32235353	SK-N-SH	brain:	n/a	n/a
4	ZNF263	chr2:32233257-32235605	HEK293-T-REx	kidney:	n/a	n/a
5	RCOR1	chr2:32233921-32234090	K562	blood:	n/a	n/a
6	STAT3	chr2:32233726-32234215	MCF10A-Er-Src	breast:	n/a	n/a
7	CUX1	chr2:32233888-32234225	K562	blood:	n/a	n/a
8	STAT3	chr2:32233812-32234191	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr2:32233877-32235534	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr2:32233816-32234224	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr2:32233849-32234392	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr2:32233788-32234136	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr2:32233774-32234198	GM12878	blood:	n/a	n/a
14	TBP	chr2:32233856-32234370	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr2:32233825-32234290	Hela-S3	cervix:	n/a	n/a
16	E2F4	chr2:32233865-32234270	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXA1	chr2:32233639-32234511	HepG2	liver:	n/a	n/a
18	MXI1	chr2:32233583-32235366	IMR90	lung:	n/a	n/a
19	STAT3	chr2:32233748-32234364	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr2:32233920-32234219	T-47D	breast:	n/a	n/a
21	RAD21	chr2:32233856-32235091	IMR90	lung:	n/a	chr2:32234817-32234830 chr2:32234800-32234812 chr2:32234816-32234828
22	FOXA1	chr2:32233836-32234592	HepG2	liver:	n/a	n/a
23	FOS	chr2:32233789-32234061	MCF10A-Er-Src	breast:	n/a	chr2:32233899-32233906 chr2:32233897-32233906 chr2:32233896-32233907 chr2:32233897-32233907
24	MXI1	chr2:32233926-32235088	Hela-S3	cervix:	n/a	n/a
25	RFX5	chr2:32233870-32234376	Hela-S3	cervix:	n/a	n/a
26	EP300	chr2:32233811-32234298	GM12878	blood:	n/a	chr2:32233897-32233906
27	FOS	chr2:32233717-32234280	MCF10A-Er-Src	breast:	n/a	chr2:32233899-32233906 chr2:32233897-32233906 chr2:32233896-32233907 chr2:32233897-32233907

No.	Distal block	Cell Line	Cell type
1	chr2:32233869..32239615-chr2:32259766..32267170,13	K562	blood:
2	chr2:32232898..32237970-chr2:32287390..32290443,5	K562	blood:
3	chr2:32233185..32238105-chr2:32388775..32395245,11	K562	blood:
4	chr2:32231133..32238127-chr2:32263164..32266706,7	MCF-7	breast:
5	chr2:32233242..32236257-chr2:32247330..32249765,3	MCF-7	breast:
6	chr2:32173570..32176188-chr2:32233280..32235054,2	K562	blood:
7	chr2:32233050..32238839-chr2:32262715..32266551,10	MCF-7	breast:
8	chr2:32233869..32235900-chr2:32286911..32289660,3	K562	blood:
9	chr2:32158032..32160777-chr2:32231295..32234289,2	K562	blood:
10	chr2:32233309..32238481-chr2:32286150..32290599,7	MCF-7	breast:
11	chr2:32210208..32213123-chr2:32231743..32234482,2	K562	blood:
12	chr2:32231239..32234526-chr2:32234585..32239142,5	MCF-7	breast:
13	chr2:32233077..32237611-chr2:32388376..32395245,10	K562	blood:

Variant related genes	Relation type
ENSG00000271228	TF binding region
ENSG00000162961	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000162959	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000021574	Chromatin interaction
ENSG00000271228	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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv3416925	chr2:32233648-32236796	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv3339024	chr2:32233873-32237321	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32191600-32234200	Weak transcription	Lung	lung
2	chr2:32206600-32234000	Weak transcription	Stomach Mucosa	stomach
3	chr2:32223400-32234400	Weak transcription	Spleen	Spleen
4	chr2:32225800-32234200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:32229200-32234200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:32229200-32234200	Weak transcription	Esophagus	oesophagus
7	chr2:32230400-32234000	Weak transcription	Psoas Muscle	Psoas
8	chr2:32230800-32234000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:32231400-32234000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:32231800-32234000	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:32231800-32234000	Weak transcription	Ovary	ovary
12	chr2:32232000-32234200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:32232000-32234200	Weak transcription	Pancreas	Pancrea
14	chr2:32232200-32234000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:32233000-32234200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr2:32233000-32234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:32233200-32234000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:32233200-32234000	Enhancers	Placenta	Placenta
19	chr2:32233200-32234200	Flanking Active TSS	HUVEC	blood vessel
20	chr2:32233200-32234400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:32233200-32234400	Enhancers	Small Intestine	intestine
22	chr2:32233200-32234400	Flanking Active TSS	Dnd41	blood
23	chr2:32233200-32234400	Flanking Active TSS	Hela-S3	cervix
24	chr2:32233200-32234600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr2:32233200-32236200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:32233200-32236200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:32233400-32234000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:32233400-32234000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:32233400-32234000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:32233400-32234000	Active TSS	HepG2	liver
31	chr2:32233400-32234200	Flanking Active TSS	NH-A	brain
32	chr2:32233400-32234400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:32233400-32234600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr2:32233400-32234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:32233400-32234600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:32233400-32236200	Active TSS	Colonic Mucosa	Colon
37	chr2:32233400-32236200	Active TSS	HSMM	muscle
38	chr2:32233400-32236400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:32233400-32236600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr2:32233400-32236600	Active TSS	Fetal Intestine Large	intestine
41	chr2:32233600-32234000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:32233600-32234000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:32233600-32234000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:32233600-32234000	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr2:32233600-32234000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr2:32233600-32234000	Enhancers	Adipose Nuclei	Adipose
47	chr2:32233600-32234000	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr2:32233600-32234000	Flanking Active TSS	Fetal Thymus	thymus
49	chr2:32233600-32234000	Weak transcription	Right Atrium	heart
50	chr2:32233600-32234000	Flanking Active TSS	K562	blood

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