Variant report

Variant	rs5753260
Chromosome Location	chr22:31030592-31030593
allele	A/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	JUND	chr22:31030419-31031210	H1-hESC	embryonic stem cell:	n/a	chr22:31031015-31031025 chr22:31031014-31031026 chr22:31031015-31031025 chr22:31031016-31031024
2	KAP1	chr22:31030293-31031089	U2OS	brain:	n/a	n/a
3	CTCF	chr22:31030500-31030650	AG10803	skin:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
4	CTCF	chr22:31030500-31030650	AG04450	lung:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
5	CTCF	chr22:31030295-31030828	MCF-7	breast:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
6	CTCF	chr22:31030520-31030670	WERI-Rb-1	eye:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
7	CTCF	chr22:31030520-31030670	GM12875	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
8	RCOR1	chr22:31030391-31031594	GM12878	blood:	n/a	n/a
9	RAD21	chr22:31030159-31033009	SK-N-SH	brain:	n/a	chr22:31030567-31030586 chr22:31031143-31031156 chr22:31030572-31030584 chr22:31032159-31032171 chr22:31031145-31031157 chr22:31031995-31032005 chr22:31031446-31031456 chr22:31031511-31031524 chr22:31030571-31030580 chr22:31031145-31031155 chr22:31030568-31030582
10	CTCF	chr22:31030353-31030684	A549	lung:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
11	POLR2A	chr22:31030389-31032098	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr22:31030430-31030728	Gliobla	brain:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
13	CTCF	chr22:31030520-31030670	GM12872	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
14	MAX	chr22:31030378-31030991	ECC-1	luminal epithelium:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
15	JUND	chr22:31030410-31031182	K562	blood:	n/a	chr22:31031015-31031025 chr22:31031014-31031026 chr22:31031015-31031025 chr22:31031016-31031024
16	ATF2	chr22:31030345-31030798	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr22:31030350-31030883	MCF-7	breast:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
18	BHLHE40	chr22:31030382-31030783	K562	blood:	n/a	n/a
19	BACH1	chr22:31030321-31030701	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr22:31030433-31030719	GM19239	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
21	CTCF	chr22:31030500-31030650	BJ	skin:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
22	CTCF	chr22:31030419-31030694	T-47D	breast:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
23	CTCF	chr22:31030520-31030670	HUVEC	blood vessel:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
24	POLR2A	chr22:31030221-31032151	U87	brain:	n/a	n/a
25	CTCF	chr22:31030560-31030710	MCF-7	breast:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
26	CTCF	chr22:31030500-31030650	GM12872	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
27	MAFK	chr22:31030402-31030913	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr22:31030520-31030670	HEK293	kidney:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
29	POLR2A	chr22:31030277-31032167	HUVEC	blood vessel:	n/a	n/a
30	RAD21	chr22:31030347-31030899	MCF-7	breast:	n/a	chr22:31030567-31030586 chr22:31030572-31030584 chr22:31030571-31030580 chr22:31030568-31030582
31	MAX	chr22:31030346-31030910	MCF-7	breast:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
32	CTCF	chr22:31030540-31030690	NHEK	skin:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
33	POLR2A	chr22:31030494-31031981	GM19193	blood:	n/a	n/a
34	CTCF	chr22:31030359-31030784	K562	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
35	CTCF	chr22:31030480-31030630	WERI-Rb-1	eye:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
36	POLR2A	chr22:31030291-31032145	U87	brain:	n/a	n/a
37	YY1	chr22:31030382-31030770	SK-N-SH_RA	brain:	n/a	chr22:31030572-31030586
38	MYC	chr22:31030505-31030871	MCF10A-Er-Src	breast:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
39	RAD21	chr22:31030400-31030792	HepG2	liver:	n/a	chr22:31030567-31030586 chr22:31030572-31030584 chr22:31030571-31030580 chr22:31030568-31030582
40	CTCF	chr22:31030480-31030630	GM12875	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
41	CTCF	chr22:31030500-31030650	BE2_C	brain:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
42	CTCF	chr22:31030480-31030630	A549	lung:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
43	IRF4	chr22:31030478-31031187	GM12878	blood:	n/a	n/a
44	RELA	chr22:31030386-31031564	GM19099	blood:	n/a	n/a
45	RFX5	chr22:31030424-31030835	Hela-S3	cervix:	n/a	n/a
46	TCF7L2	chr22:31030356-31030829	Hela-S3	cervix:	n/a	n/a
47	BHLHE40	chr22:31030421-31030752	HepG2	liver:	n/a	n/a
48	GTF2F1	chr22:31030467-31030757	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr22:31030520-31030670	HFF-Myc	foreskin:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
50	TCF7L2	chr22:31030419-31030822	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31030552..31033273-chr22:31061698..31065017,4	MCF-7	breast:
2	chr22:31030338..31033016-chr22:31062140..31065480,4	MCF-7	breast:
3	chr22:31030229..31031056-chr22:31150888..31151995,5	MCF-7	breast:
4	chr22:31030117..31031164-chr22:31286279..31286856,3	MCF-7	breast:

Variant related genes	Relation type
SLC35E4	TF binding region
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11703570	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13053941	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13054505	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13054912	0.87[ASN][1000 genomes]
rs13055009	0.81[ASN][1000 genomes]
rs13057127	0.90[ASN][1000 genomes]
rs1544468	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1981590	0.82[EUR][1000 genomes]
rs2003503	0.97[ASN][1000 genomes]
rs2078973	0.89[ASN][1000 genomes]
rs2301955	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2301957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2301958	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs3179442	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs4340628	0.97[ASN][1000 genomes]
rs4353747	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4820023	0.84[EUR][1000 genomes]
rs4820888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4820890	0.81[ASN][1000 genomes]
rs56132790	0.90[ASN][1000 genomes]
rs5749131	0.81[CHB][hapmap]
rs5749134	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5749135	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5749137	0.81[ASN][1000 genomes]
rs5749142	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749143	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749145	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749148	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749149	0.81[EUR][1000 genomes]
rs5753249	0.81[ASN][1000 genomes]
rs5753257	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753258	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5994328	0.81[EUR][1000 genomes]
rs5997703	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5997709	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997710	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997715	0.81[EUR][1000 genomes]
rs5997726	0.90[ASN][1000 genomes]
rs5997727	0.93[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs7286680	0.82[ASN][1000 genomes]
rs7289553	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs731990	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs731991	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs740233	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs740235	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs757030	0.86[ASN][1000 genomes]
rs766526	0.84[ASN][1000 genomes]
rs8138932	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8139950	0.83[EUR][1000 genomes]
rs8630	0.93[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs9621047	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv829172	chr22:31024057-31032291	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3374115	chr22:31030477-31033325	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31003800-31030600	Weak transcription	Thymus	Thymus
3	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
5	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
7	chr22:31011800-31030600	Weak transcription	Right Ventricle	heart
8	chr22:31012000-31030600	Weak transcription	Brain Angular Gyrus	brain
9	chr22:31013600-31030600	Weak transcription	Pancreas	Pancrea
10	chr22:31013800-31030600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:31014000-31030800	Weak transcription	Gastric	stomach
12	chr22:31014000-31030800	Weak transcription	Ovary	ovary
13	chr22:31015800-31030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:31015800-31030600	Weak transcription	Fetal Lung	lung
15	chr22:31017000-31030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:31017200-31030600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:31019200-31030600	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:31019200-31030600	Weak transcription	Left Ventricle	heart
19	chr22:31019200-31030800	Weak transcription	Lung	lung
20	chr22:31023000-31030600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:31023000-31030600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:31023000-31030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:31023000-31030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr22:31023200-31030600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr22:31023200-31030600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:31023200-31030600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:31023200-31030600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:31023200-31030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:31023200-31030600	Weak transcription	Adipose Nuclei	Adipose
30	chr22:31023200-31030600	Weak transcription	Fetal Brain Female	brain
31	chr22:31024000-31030600	Weak transcription	Spleen	Spleen
32	chr22:31025000-31030600	Weak transcription	Brain Germinal Matrix	brain
33	chr22:31025200-31031200	Weak transcription	Right Atrium	heart
34	chr22:31026200-31030600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:31026400-31031000	Weak transcription	Fetal Heart	heart
36	chr22:31030200-31030600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:31030200-31030600	Enhancers	Primary B cells from peripheral blood	blood
38	chr22:31030200-31030600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr22:31030200-31030600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr22:31030200-31030600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr22:31030200-31030600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr22:31030200-31030600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr22:31030200-31030600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:31030200-31030600	Enhancers	Brain Cingulate Gyrus	brain
45	chr22:31030200-31030600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr22:31030200-31030600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:31030200-31030600	Enhancers	Brain Substantia Nigra	brain
48	chr22:31030200-31030600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr22:31030200-31030600	Enhancers	GM12878-XiMat	blood
50	chr22:31030200-31030600	Enhancers	HUVEC	blood vessel

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