Variant report

Variant	rs531446193
Chromosome Location	chr2:32234313-32234314
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	POLR2A	chr2:32234306-32236930	Raji	blood:	n/a	n/a
2	POLR2A	chr2:32234312-32236987	GM18505	blood:	n/a	n/a
3	MAFK	chr2:32234216-32234480	HepG2	liver:	n/a	chr2:32234355-32234366 chr2:32234356-32234367 chr2:32234354-32234368 chr2:32234355-32234366
4	MAFK	chr2:32234138-32234640	Hela-S3	cervix:	n/a	chr2:32234355-32234366 chr2:32234356-32234367 chr2:32234354-32234368 chr2:32234355-32234366
5	MXI1	chr2:32234160-32234367	GM12878	blood:	n/a	n/a
6	MXI1	chr2:32233666-32235353	SK-N-SH	brain:	n/a	n/a
7	ZNF263	chr2:32233257-32235605	HEK293-T-REx	kidney:	n/a	n/a
8	MAX	chr2:32234195-32235269	K562	blood:	n/a	n/a
9	MAX	chr2:32233877-32235534	Hela-S3	cervix:	n/a	n/a
10	MYC	chr2:32233849-32234392	MCF10A-Er-Src	breast:	n/a	n/a
11	MXI1	chr2:32234176-32235091	HepG2	liver:	n/a	n/a
12	MAX	chr2:32233970-32235145	NB4	blood:	n/a	n/a
13	TBP	chr2:32233856-32234370	Hela-S3	cervix:	n/a	n/a
14	SIN3AK20	chr2:32234232-32234496	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr2:32234185-32235138	SK-N-SH	brain:	n/a	n/a
16	MAFK	chr2:32234203-32234432	HepG2	liver:	n/a	chr2:32234355-32234366 chr2:32234356-32234367 chr2:32234354-32234368 chr2:32234355-32234366
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	MAX	chr2:32234307-32235364	A549	lung:	n/a	n/a
21	UBTF	chr2:32234060-32236435	K562	blood:	n/a	n/a
22	RAD21	chr2:32233856-32235091	IMR90	lung:	n/a	chr2:32234817-32234830 chr2:32234800-32234812 chr2:32234816-32234828
23	MXI1	chr2:32234308-32234994	H1-hESC	embryonic stem cell:	n/a	n/a
24	FOXA1	chr2:32233836-32234592	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr2:32234234-32234757	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFF	chr2:32234272-32234473	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:32234199-32234976	H1-neurons	neurons:	n/a	n/a
28	CTBP2	chr2:32234243-32234854	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIN3A	chr2:32234015-32235096	H1-hESC	embryonic stem cell:	n/a	chr2:32234306-32234315 chr2:32234639-32234653
30	MXI1	chr2:32233926-32235088	Hela-S3	cervix:	n/a	n/a
31	SIN3AK20	chr2:32234282-32234674	A549	lung:	n/a	n/a
32	WRNIP1	chr2:32233946-32234641	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:32234230-32235000	H1-neurons	neurons:	n/a	n/a
34	RFX5	chr2:32233870-32234376	Hela-S3	cervix:	n/a	n/a

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	chr17:56063594..56066516-chr2:32234123..32236602,2	MCF-7	breast:
7	chr2:32173570..32176188-chr2:32233280..32235054,2	K562	blood:
8	chr2:32233050..32238839-chr2:32262715..32266551,10	MCF-7	breast:
9	chr2:32233869..32235900-chr2:32286911..32289660,3	K562	blood:
10	chr2:32233309..32238481-chr2:32286150..32290599,7	MCF-7	breast:
11	chr2:32234151..32237531-chr2:32262421..32266825,7	K562	blood:
12	chr2:32210208..32213123-chr2:32231743..32234482,2	K562	blood:
13	chr2:32231239..32234526-chr2:32234585..32239142,5	MCF-7	breast:
14	chr2:32233077..32237611-chr2:32388376..32395245,10	K562	blood:

Variant related genes	Relation type
ENSG00000271228	TF binding region
ENSG00000162961	Chromatin interaction
ENSG00000021574	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000271228	Chromatin interaction
ENSG00000162959	Chromatin interaction
ENSG00000136451	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32223400-32234400	Weak transcription	Spleen	Spleen
2	chr2:32233000-32234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:32233200-32234400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:32233200-32234400	Enhancers	Small Intestine	intestine
5	chr2:32233200-32234400	Flanking Active TSS	Dnd41	blood
6	chr2:32233200-32234400	Flanking Active TSS	Hela-S3	cervix
7	chr2:32233200-32234600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:32233200-32236200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:32233200-32236200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr2:32233400-32234400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:32233400-32234600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr2:32233400-32234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:32233400-32234600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:32233400-32236200	Active TSS	Colonic Mucosa	Colon
15	chr2:32233400-32236200	Active TSS	HSMM	muscle
16	chr2:32233400-32236400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:32233400-32236600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:32233400-32236600	Active TSS	Fetal Intestine Large	intestine
19	chr2:32233600-32234400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr2:32233600-32234400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:32233600-32234600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr2:32233600-32234600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:32233600-32235000	Active TSS	Fetal Kidney	kidney
24	chr2:32233600-32236200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:32233600-32236200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:32233600-32236400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:32233600-32236400	Active TSS	Stomach Smooth Muscle	stomach
28	chr2:32233600-32236600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:32233600-32236600	Active TSS	Right Ventricle	heart
30	chr2:32233600-32236600	Active TSS	GM12878-XiMat	blood
31	chr2:32233600-32236600	Active TSS	HSMMtube	muscle
32	chr2:32233600-32236800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:32233600-32236800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:32233600-32236800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr2:32233600-32236800	Active TSS	Fetal Muscle Leg	muscle
36	chr2:32233800-32234400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr2:32233800-32234400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr2:32233800-32234400	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr2:32233800-32234400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:32233800-32234400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:32233800-32234400	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr2:32233800-32234400	Flanking Active TSS	Fetal Brain Male	brain
43	chr2:32233800-32234400	Flanking Active TSS	Fetal Lung	lung
44	chr2:32233800-32234400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr2:32233800-32234600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:32233800-32234600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:32233800-32234600	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr2:32233800-32235000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr2:32233800-32235200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:32233800-32236200	Active TSS	Fetal Muscle Trunk	muscle

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