Variant report

Variant	rs5994293
Chromosome Location	chr22:30752696-30752697
allele	G/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	ZNF143	chr22:30752331-30753045	K562	blood:	n/a	chr22:30752599-30752617 chr22:30752959-30752977
2	NFATC1	chr22:30752414-30752913	GM12878	blood:	n/a	n/a
3	MAX	chr22:30752404-30753292	A549	lung:	n/a	n/a
4	HMGN3	chr22:30752539-30753201	K562	blood:	n/a	n/a
5	MXI1	chr22:30752260-30753227	GM12878	blood:	n/a	chr22:30752996-30753011 chr22:30752994-30753009
6	POLR2A	chr22:30752336-30753343	U87	brain:	n/a	n/a
7	ELK4	chr22:30752642-30753344	Hela-S3	cervix:	n/a	n/a
8	TAF7	chr22:30752398-30753111	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:30752606-30753036	A549	lung:	n/a	n/a
10	POLR2A	chr22:30752643-30753081	SK-N-MC	brain:	n/a	n/a
11	RFX5	chr22:30752438-30753277	Hela-S3	cervix:	n/a	chr22:30752995-30753010 chr22:30752995-30753010 chr22:30752993-30753007 chr22:30752995-30753010
12	TAF1	chr22:30752429-30753241	H1-hESC	embryonic stem cell:	n/a	n/a
13	HEY1	chr22:30752475-30752941	HepG2	liver:	n/a	n/a
14	CREB1	chr22:30752545-30753207	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr22:30752194-30753312	PBDE	blood:	n/a	n/a
16	MAX	chr22:30752295-30753448	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr22:30752299-30753356	K562	blood:	n/a	n/a
18	RAD21	chr22:30752454-30753238	IMR90	lung:	n/a	chr22:30752682-30752696 chr22:30752683-30752697 chr22:30753046-30753059
19	ELF1	chr22:30752690-30753120	A549	lung:	n/a	chr22:30752925-30752934 chr22:30752924-30752935 chr22:30752970-30752982 chr22:30753044-30753056
20	NANOG	chr22:30752481-30753160	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYBL2	chr22:30752647-30753134	HepG2	liver:	n/a	n/a
22	RUNX3	chr22:30752123-30753317	GM12878	blood:	n/a	n/a
23	ELF1	chr22:30752414-30753198	SK-N-SH	brain:	n/a	chr22:30752925-30752934 chr22:30752924-30752935 chr22:30752970-30752982 chr22:30753044-30753056
24	POLR2A	chr22:30752370-30753090	PFSK-1	brain:	n/a	n/a
25	MAZ	chr22:30752175-30753720	IMR90	lung:	n/a	n/a
26	TAF1	chr22:30752437-30753018	A549	lung:	n/a	n/a
27	POLR2A	chr22:30752357-30753207	HUVEC	blood vessel:	n/a	n/a
28	CHD1	chr22:30751997-30752926	GM12878	blood:	n/a	n/a
29	CREB1	chr22:30752345-30753390	GM12878	blood:	n/a	n/a
30	POLR2A	chr22:30752421-30753197	HL-60	blood:	n/a	n/a
31	ZBTB33	chr22:30752327-30752797	GM12878	blood:	n/a	n/a
32	MXI1	chr22:30752358-30753307	H1-hESC	embryonic stem cell:	n/a	chr22:30752996-30753011 chr22:30752994-30753009
33	POLR2A	chr22:30752565-30753096	GM12878	blood:	n/a	n/a
34	NFIC	chr22:30752399-30753155	GM12878	blood:	n/a	n/a
35	ATF2	chr22:30752398-30753111	H1-hESC	embryonic stem cell:	n/a	n/a
36	POU2F2	chr22:30752522-30753132	GM12891	blood:	n/a	n/a
37	SP4	chr22:30752451-30753034	H1-hESC	embryonic stem cell:	n/a	n/a
38	EP300	chr22:30752561-30753297	HepG2	liver:	n/a	chr22:30752925-30752932 chr22:30752959-30752975
39	MYC	chr22:30752282-30753134	K562	blood:	n/a	n/a
40	YY1	chr22:30752475-30753103	HCT-116	colon:	n/a	chr22:30752701-30752712 chr22:30753044-30753058 chr22:30752868-30752888
41	E2F4	chr22:30752424-30753483	MCF10A-Er-Src	breast:	n/a	chr22:30752954-30752965 chr22:30752955-30752967
42	CTBP2	chr22:30752484-30753483	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr22:30752501-30753036	HepG2	liver:	n/a	n/a
44	CREB1	chr22:30752434-30753245	K562	blood:	n/a	n/a
45	SIN3AK20	chr22:30752160-30753454	H1-hESC	embryonic stem cell:	n/a	n/a
46	TBP	chr22:30752365-30753058	GM12878	blood:	n/a	n/a
47	ELF1	chr22:30752481-30753226	K562	blood:	n/a	chr22:30752925-30752934 chr22:30752924-30752935 chr22:30752970-30752982 chr22:30753044-30753056
48	SIX5	chr22:30752400-30752718	K562	blood:	n/a	n/a
49	ZEB1	chr22:30752429-30753129	GM12878	blood:	n/a	chr22:30753115-30753128
50	YY1	chr22:30752073-30753151	GM12892	blood:	n/a	chr22:30752701-30752712 chr22:30752352-30752366 chr22:30753044-30753058 chr22:30752868-30752888

No.	Distal block	Cell Line	Cell type
1	chr22:30692983..30695862-chr22:30751814..30754169,4	MCF-7	breast:
2	chr22:30740000..30742543-chr22:30750600..30752817,3	MCF-7	breast:
3	chr22:30752487..30753117-chr7:5570074..5570709,2	Hela-S3	cervix:
4	chr22:30701188..30702736-chr22:30752373..30753948,2	MCF-7	breast:
5	chr22:30684284..30686749-chr22:30752450..30754272,3	MCF-7	breast:
6	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
7	chr22:30736285..30738437-chr22:30751447..30754136,2	K562	blood:
8	chr22:30751699..30753468-chr22:30782814..30784590,2	K562	blood:
9	chr22:30682051..30684043-chr22:30751437..30753247,3	MCF-7	breast:
10	chr10:120840013..120840920-chr22:30752127..30753112,2	Hela-S3	cervix:
11	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
12	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
13	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
14	chr22:30689967..30692152-chr22:30752675..30754508,2	MCF-7	breast:
15	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
16	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
17	chr22:30736285..30738543-chr22:30751447..30754136,3	K562	blood:
18	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:
19	chr22:30712771..30715254-chr22:30752580..30754854,2	MCF-7	breast:
20	chr22:30722006..30724246-chr22:30752442..30754508,2	K562	blood:

Variant related genes	Relation type
CCDC157	TF binding region
ENSG00000099992	Chromatin interaction
ENSG00000107581	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000248751	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17658686	0.88[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap]
rs2097919	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs2299824	0.80[AMR][1000 genomes]
rs2412985	0.88[ASN][1000 genomes]
rs4820845	0.92[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes]
rs5749089	0.89[EUR][1000 genomes]
rs5753103	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5763939	0.95[ASN][1000 genomes]
rs5997602	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs722298	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7292432	0.82[ASN][1000 genomes]
rs737805	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608885	0.92[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs9620970	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr22:30750600-30754400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:30751200-30752800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr22:30751200-30753600	Active TSS	Ovary	ovary
4	chr22:30751200-30753600	Active TSS	A549	lung
5	chr22:30751400-30754000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr22:30751400-30754200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr22:30751600-30753200	Active TSS	Fetal Muscle Trunk	muscle
8	chr22:30751600-30753600	Active TSS	Psoas Muscle	Psoas
9	chr22:30751600-30753800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr22:30751600-30754000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr22:30751600-30754200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr22:30751600-30754200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr22:30751800-30753200	Active TSS	HMEC	breast
14	chr22:30751800-30753200	Active TSS	HSMM	muscle
15	chr22:30751800-30753400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:30751800-30753600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr22:30751800-30753600	Active TSS	GM12878-XiMat	blood
18	chr22:30751800-30753600	Active TSS	K562	blood
19	chr22:30751800-30753800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr22:30751800-30753800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:30751800-30754000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr22:30751800-30754200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr22:30752000-30752800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
24	chr22:30752000-30753000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
25	chr22:30752000-30753200	Active TSS	Brain Anterior Caudate	brain
26	chr22:30752000-30753200	Active TSS	Brain Germinal Matrix	brain
27	chr22:30752000-30753200	Active TSS	Lung	lung
28	chr22:30752000-30753200	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr22:30752000-30753200	Active TSS	Stomach Mucosa	stomach
30	chr22:30752000-30753400	Active TSS	Aorta	Aorta
31	chr22:30752000-30753600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr22:30752000-30753600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:30752000-30753600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:30752000-30753600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:30752000-30753600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr22:30752000-30753600	Active TSS	Fetal Lung	lung
37	chr22:30752000-30753600	Active TSS	Left Ventricle	heart
38	chr22:30752000-30753600	Active TSS	Hela-S3	cervix
39	chr22:30752000-30753600	Active TSS	NHDF-Ad	bronchial
40	chr22:30752000-30753600	Active TSS	NHLF	lung
41	chr22:30752000-30753800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:30752000-30753800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:30752000-30753800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:30752000-30754000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:30752200-30752800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
46	chr22:30752200-30753200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:30752200-30753200	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr22:30752200-30753200	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr22:30752200-30753200	Active TSS	Brain Cingulate Gyrus	brain
50	chr22:30752200-30753200	Active TSS	Esophagus	oesophagus

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