Variant report

Variant	rs130538
Chromosome Location	chr22:33176326-33176327
allele	C/G
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	RAD21	chr22:33176263-33176757	HepG2	liver:	n/a	chr22:33176387-33176396
2	MYBL2	chr22:33175634-33176938	HepG2	liver:	n/a	n/a
3	TEAD4	chr22:33175736-33176946	HepG2	liver:	n/a	n/a
4	HDAC2	chr22:33176234-33176907	HepG2	liver:	n/a	n/a
5	FOXA1	chr22:33176248-33176864	HepG2	liver:	n/a	n/a
6	ZEB1	chr22:33175582-33176933	HepG2	liver:	n/a	chr22:33176459-33176471
7	MYBL2	chr22:33175965-33176850	HepG2	liver:	n/a	n/a
8	FOXA1	chr22:33176097-33176874	HepG2	liver:	n/a	n/a
9	RXRA	chr22:33176074-33176818	HepG2	liver:	n/a	n/a
10	YY1	chr22:33176040-33176359	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr22:33176248-33176865	HepG2	liver:	n/a	chr22:33176387-33176396
12	POLR2A	chr22:33175782-33176704	HepG2	liver:	n/a	n/a
13	REST	chr22:33176047-33176735	HepG2	liver:	n/a	n/a
14	MAX	chr22:33175905-33176733	HepG2	liver:	n/a	n/a
15	SMC3	chr22:33176090-33176676	HepG2	liver:	n/a	n/a
16	FOXA1	chr22:33176303-33176824	HepG2	liver:	n/a	n/a
17	CREB1	chr22:33176056-33176873	HepG2	liver:	n/a	n/a
18	MAZ	chr22:33176247-33176864	HepG2	liver:	n/a	n/a
19	FOXA2	chr22:33176289-33176811	HepG2	liver:	n/a	n/a
20	POLR2A	chr22:33176043-33176800	HepG2	liver:	n/a	n/a
21	GATA3	chr22:33176278-33176653	T-47D	breast:	n/a	n/a
22	NFIC	chr22:33176032-33176845	HepG2	liver:	n/a	n/a
23	POLR2A	chr22:33175478-33176756	HepG2	liver:	n/a	n/a
24	MXI1	chr22:33175748-33176773	HepG2	liver:	n/a	n/a
25	ZEB1	chr22:33176052-33176886	HepG2	liver:	n/a	chr22:33176459-33176471
26	NFIC	chr22:33176100-33176877	HepG2	liver:	n/a	n/a
27	CREB1	chr22:33175647-33176915	HepG2	liver:	n/a	n/a
28	HNF4A	chr22:33175684-33176829	HepG2	liver:	n/a	chr22:33176584-33176599
29	FOXA1	chr22:33175983-33176884	HepG2	liver:	n/a	n/a
30	SP1	chr22:33176082-33176883	HepG2	liver:	n/a	n/a
31	HNF4A	chr22:33176313-33176854	HepG2	liver:	n/a	chr22:33176584-33176599
32	RCOR1	chr22:33175677-33176803	HepG2	liver:	n/a	n/a
33	HEY1	chr22:33175735-33176751	HepG2	liver:	n/a	n/a
34	HNF4A	chr22:33176313-33176776	HepG2	liver:	n/a	chr22:33176584-33176599
35	TAF1	chr22:33176092-33176504	HepG2	liver:	n/a	n/a
36	MAFK	chr22:33176236-33176810	HepG2	liver:	n/a	n/a
37	EP300	chr22:33175546-33176900	HepG2	liver:	n/a	chr22:33176254-33176270
38	HDAC2	chr22:33176122-33176817	HepG2	liver:	n/a	chr22:33176134-33176148
39	HNF4G	chr22:33176080-33176833	HepG2	liver:	n/a	chr22:33176584-33176599
40	RAD21	chr22:33176062-33176755	HepG2	liver:	n/a	chr22:33176387-33176396
41	POLR2A	chr22:33176062-33176617	HepG2	liver:	n/a	n/a
42	POLR2A	chr22:33176281-33176467	HepG2	liver:	n/a	n/a
43	POLR2A	chr22:33176152-33176547	HepG2	liver:	n/a	n/a
44	EP300	chr22:33176232-33176788	HepG2	liver:	n/a	chr22:33176254-33176270
45	YY1	chr22:33175674-33176335	HepG2	liver:	n/a	n/a
46	YY1	chr22:33176060-33176559	HepG2	liver:	n/a	n/a
47	HEY1	chr22:33176046-33176604	HepG2	liver:	n/a	n/a
48	POLR2A	chr22:33175702-33176732	HepG2	liver:	n/a	n/a
49	POLR2A	chr22:33176041-33176680	HepG2	liver:	n/a	n/a
50	TBP	chr22:33175743-33176798	HepG2	liver:	n/a	n/a

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: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1018792	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11089594	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130269	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130270	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130275	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs130276	0.83[AMR][1000 genomes]
rs130287	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs130525	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130530	0.92[CEU][hapmap];0.88[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs130532	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs130533	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs130548	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs130551	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs130559	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs130560	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs135149	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1962223	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2413148	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4635627	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4821094	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4821095	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4821096	0.94[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5754251	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5994619	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5998616	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5998622	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72487604	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs762887	0.94[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs80269	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs929013	0.94[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs929014	0.94[CEU][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9606991	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9606992	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9606993	0.94[CEU][hapmap];0.89[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9609622	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9609623	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9609631	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]

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

No data

Chromatin state (count:44 , 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	chr22:33175600-33176400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:33175600-33176400	Flanking Active TSS	Liver	Liver
11	chr22:33175600-33176600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:33175600-33176600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:33175600-33176600	Enhancers	Fetal Intestine Large	intestine
14	chr22:33175600-33176600	Enhancers	Fetal Thymus	thymus
15	chr22:33175600-33176800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr22:33175600-33176800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr22:33175600-33176800	Enhancers	Lung	lung
18	chr22:33175600-33176800	Enhancers	HMEC	breast
19	chr22:33175600-33177400	Enhancers	Pancreas	Pancrea
20	chr22:33175600-33177600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:33175600-33177600	Enhancers	Placenta	Placenta
22	chr22:33175800-33176400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr22:33175800-33176400	Enhancers	Right Atrium	heart
24	chr22:33175800-33176600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr22:33175800-33176600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr22:33175800-33176600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:33175800-33176600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:33175800-33176800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr22:33175800-33176800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr22:33175800-33176800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:33175800-33176800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:33175800-33176800	Enhancers	Duodenum Mucosa	Duodenum
33	chr22:33175800-33176800	Enhancers	Fetal Intestine Small	intestine
34	chr22:33175800-33176800	Enhancers	Stomach Smooth Muscle	stomach
35	chr22:33175800-33177400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr22:33176000-33176400	Enhancers	Colonic Mucosa	Colon
37	chr22:33176000-33176600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:33176000-33178000	Enhancers	Adipose Nuclei	Adipose
39	chr22:33176200-33176600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:33176200-33176600	Enhancers	Fetal Muscle Trunk	muscle
41	chr22:33176200-33176800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr22:33176200-33176800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:33176200-33176800	Enhancers	NHEK	skin
44	chr22:33176200-33177400	Enhancers	Rectal Mucosa Donor 31	rectum

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