Variant report

Variant	rs130539
Chromosome Location	chr22:33176450-33176451
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	EP300	chr22:33176336-33176806	HepG2	liver:	n/a	n/a
2	CEBPB	chr22:33176405-33176781	HepG2	liver:	n/a	n/a
3	RAD21	chr22:33176263-33176757	HepG2	liver:	n/a	chr22:33176387-33176396
4	MYBL2	chr22:33175634-33176938	HepG2	liver:	n/a	n/a
5	RFX5	chr22:33176443-33176652	HepG2	liver:	n/a	n/a
6	TEAD4	chr22:33175736-33176946	HepG2	liver:	n/a	n/a
7	CEBPB	chr22:33176382-33176729	HepG2	liver:	n/a	n/a
8	HDAC2	chr22:33176234-33176907	HepG2	liver:	n/a	n/a
9	ZBTB7A	chr22:33176344-33176637	HepG2	liver:	n/a	n/a
10	FOXA1	chr22:33176248-33176864	HepG2	liver:	n/a	n/a
11	ZEB1	chr22:33175582-33176933	HepG2	liver:	n/a	chr22:33176459-33176471
12	MYBL2	chr22:33175965-33176850	HepG2	liver:	n/a	n/a
13	FOXA1	chr22:33176097-33176874	HepG2	liver:	n/a	n/a
14	RXRA	chr22:33176074-33176818	HepG2	liver:	n/a	n/a
15	RAD21	chr22:33176248-33176865	HepG2	liver:	n/a	chr22:33176387-33176396
16	POLR2A	chr22:33175782-33176704	HepG2	liver:	n/a	n/a
17	FOXA1	chr22:33176444-33176698	T-47D	breast:	n/a	n/a
18	REST	chr22:33176047-33176735	HepG2	liver:	n/a	n/a
19	MAX	chr22:33175905-33176733	HepG2	liver:	n/a	n/a
20	SMC3	chr22:33176090-33176676	HepG2	liver:	n/a	n/a
21	FOXA1	chr22:33176303-33176824	HepG2	liver:	n/a	n/a
22	MBD4	chr22:33176343-33176897	HepG2	liver:	n/a	n/a
23	CREB1	chr22:33176056-33176873	HepG2	liver:	n/a	n/a
24	CEBPB	chr22:33176387-33176823	HepG2	liver:	n/a	n/a
25	MAZ	chr22:33176247-33176864	HepG2	liver:	n/a	n/a
26	FOXA2	chr22:33176289-33176811	HepG2	liver:	n/a	n/a
27	POLR2A	chr22:33176043-33176800	HepG2	liver:	n/a	n/a
28	GATA3	chr22:33176278-33176653	T-47D	breast:	n/a	n/a
29	NFIC	chr22:33176032-33176845	HepG2	liver:	n/a	n/a
30	POLR2A	chr22:33175478-33176756	HepG2	liver:	n/a	n/a
31	MXI1	chr22:33175748-33176773	HepG2	liver:	n/a	n/a
32	CEBPD	chr22:33176410-33176683	HepG2	liver:	n/a	n/a
33	CEBPB	chr22:33176436-33176699	HepG2	liver:	n/a	n/a
34	TCF12	chr22:33176377-33176752	HepG2	liver:	n/a	n/a
35	ZEB1	chr22:33176052-33176886	HepG2	liver:	n/a	chr22:33176459-33176471
36	NFIC	chr22:33176100-33176877	HepG2	liver:	n/a	n/a
37	CREB1	chr22:33175647-33176915	HepG2	liver:	n/a	n/a
38	HNF4A	chr22:33175684-33176829	HepG2	liver:	n/a	chr22:33176584-33176599
39	FOXA1	chr22:33175983-33176884	HepG2	liver:	n/a	n/a
40	SP1	chr22:33176082-33176883	HepG2	liver:	n/a	n/a
41	HNF4A	chr22:33176313-33176854	HepG2	liver:	n/a	chr22:33176584-33176599
42	RCOR1	chr22:33175677-33176803	HepG2	liver:	n/a	n/a
43	HEY1	chr22:33175735-33176751	HepG2	liver:	n/a	n/a
44	HNF4A	chr22:33176313-33176776	HepG2	liver:	n/a	chr22:33176584-33176599
45	TAF1	chr22:33176092-33176504	HepG2	liver:	n/a	n/a
46	MAFK	chr22:33176236-33176810	HepG2	liver:	n/a	n/a
47	EP300	chr22:33175546-33176900	HepG2	liver:	n/a	chr22:33176254-33176270
48	HDAC2	chr22:33176122-33176817	HepG2	liver:	n/a	chr22:33176134-33176148
49	HNF4G	chr22:33176080-33176833	HepG2	liver:	n/a	chr22:33176584-33176599
50	RAD21	chr22:33176062-33176755	HepG2	liver:	n/a	chr22:33176387-33176396

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33168456-33177374	H1-hESC	embryonic stem cell:	embryo
2	chr22:33171964..33174469-chr22:33174986..33177148,3	MCF-7	breast:
3	22:32740683-32750950..22:33168456-33177374	K562	blood:

Variant related genes	Relation type
ENSG00000229673	TF binding region
ENSG00000128276	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs129305	1.00[CHB][hapmap]
rs130526	1.00[CHB][hapmap]
rs130527	1.00[CHB][hapmap]
rs130528	1.00[CHB][hapmap]
rs130529	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs130539	MTMR3	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33173400-33177400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:33173400-33179000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:33174200-33184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:33175000-33176800	Flanking Active TSS	HepG2	liver
5	chr22:33175000-33177800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr22:33175400-33176800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr22:33175400-33176800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr22:33175400-33176800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:33175600-33176600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:33175600-33176600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:33175600-33176600	Enhancers	Fetal Intestine Large	intestine
12	chr22:33175600-33176600	Enhancers	Fetal Thymus	thymus
13	chr22:33175600-33176800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr22:33175600-33176800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr22:33175600-33176800	Enhancers	Lung	lung
16	chr22:33175600-33176800	Enhancers	HMEC	breast
17	chr22:33175600-33177400	Enhancers	Pancreas	Pancrea
18	chr22:33175600-33177600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:33175600-33177600	Enhancers	Placenta	Placenta
20	chr22:33175800-33176600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:33175800-33176600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr22:33175800-33176600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:33175800-33176600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:33175800-33176800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr22:33175800-33176800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr22:33175800-33176800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:33175800-33176800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:33175800-33176800	Enhancers	Duodenum Mucosa	Duodenum
29	chr22:33175800-33176800	Enhancers	Fetal Intestine Small	intestine
30	chr22:33175800-33176800	Enhancers	Stomach Smooth Muscle	stomach
31	chr22:33175800-33177400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr22:33176000-33176600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:33176000-33178000	Enhancers	Adipose Nuclei	Adipose
34	chr22:33176200-33176600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:33176200-33176600	Enhancers	Fetal Muscle Trunk	muscle
36	chr22:33176200-33176800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr22:33176200-33176800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:33176200-33176800	Enhancers	NHEK	skin
39	chr22:33176200-33177400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr22:33176400-33177400	Enhancers	Liver	Liver
41	chr22:33176400-33177400	Weak transcription	Right Atrium	heart
42	chr22:33176400-33181600	Weak transcription	Placenta Amnion	Placenta Amnion

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