Variant report

Variant	rs720309
Chromosome Location	chr19:35797916-35797917
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:35797674-35797917	GM12878	blood:	n/a	n/a
2	CUX1	chr19:35797790-35797932	K562	blood:	n/a	n/a
3	MAFF	chr19:35797652-35798155	K562	blood:	n/a	n/a
4	RAD21	chr19:35797606-35797972	HepG2	liver:	n/a	n/a
5	CBX3	chr19:35796457-35798208	K562	blood:	n/a	n/a
6	RAD21	chr19:35797654-35797954	HepG2	liver:	n/a	n/a
7	MAFK	chr19:35797700-35797930	K562	blood:	n/a	n/a
8	MAX	chr19:35797581-35798140	MCF-7	breast:	n/a	n/a
9	SMC3	chr19:35797671-35797952	HepG2	liver:	n/a	n/a
10	ZNF143	chr19:35797623-35797960	GM12878	blood:	n/a	n/a
11	E2F6	chr19:35797825-35798015	K562	blood:	n/a	n/a
12	HDAC2	chr19:35797718-35797979	K562	blood:	n/a	n/a
13	RAD21	chr19:35797628-35798003	GM12878	blood:	n/a	n/a
14	CTCF	chr19:35797539-35798030	K562	blood:	n/a	n/a
15	EP300	chr19:35796561-35797942	K562	blood:	n/a	chr19:35797123-35797137
16	RCOR1	chr19:35796485-35798009	K562	blood:	n/a	n/a
17	CTCF	chr19:35797606-35798015	A549	lung:	n/a	n/a
18	ZNF143	chr19:35797644-35797966	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBL1XR1	chr19:35797791-35798008	K562	blood:	n/a	n/a
20	RAD21	chr19:35797622-35797972	Hela-S3	cervix:	n/a	n/a
21	GTF2F1	chr19:35797898-35798018	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF143	chr19:35797681-35797980	K562	blood:	n/a	n/a
23	NFIC	chr19:35797618-35798026	ECC-1	luminal epithelium:	n/a	n/a
24	RAD21	chr19:35797635-35797965	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr19:35797599-35797960	K562	blood:	n/a	n/a
26	CTCF	chr19:35797545-35797947	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr19:35797590-35798069	MCF-7	breast:	n/a	n/a
28	CTCF	chr19:35797594-35797950	K562	blood:	n/a	n/a
29	RUNX3	chr19:35797617-35797985	GM12878	blood:	n/a	n/a
30	RAD21	chr19:35797624-35797934	ECC-1	luminal epithelium:	n/a	n/a
31	RAD21	chr19:35797500-35798035	HCT-116	colon:	n/a	n/a
32	RAD21	chr19:35797659-35797938	K562	blood:	n/a	n/a
33	CTCF	chr19:35797660-35797930	HFF-Myc	foreskin:	n/a	n/a
34	HDAC2	chr19:35797651-35797976	HepG2	liver:	n/a	n/a
35	RAD21	chr19:35797603-35798019	A549	lung:	n/a	n/a
36	CTCF	chr19:35797655-35798079	MCF-7	breast:	n/a	n/a
37	RAD21	chr19:35797602-35798109	MCF-7	breast:	n/a	n/a
38	BACH1	chr19:35797797-35798001	K562	blood:	n/a	n/a
39	MAZ	chr19:35797686-35797929	K562	blood:	n/a	n/a
40	CTCF	chr19:35797586-35797975	GM12878	blood:	n/a	n/a
41	MAX	chr19:35797752-35798006	K562	blood:	n/a	n/a
42	CTCF	chr19:35797429-35798202	A549	lung:	n/a	n/a
43	JUND	chr19:35797649-35797943	K562	blood:	n/a	n/a
44	MAX	chr19:35797574-35798159	K562	blood:	n/a	n/a
45	CTCF	chr19:35797570-35797962	HepG2	liver:	n/a	n/a
46	RAD21	chr19:35797579-35798022	HepG2	liver:	n/a	n/a
47	CTCF	chr19:35797665-35797985	H1-hESC	embryonic stem cell:	n/a	n/a
48	E2F6	chr19:35797830-35798093	K562	blood:	n/a	n/a
49	MYC	chr19:35797648-35798006	K562	blood:	n/a	n/a
50	RAD21	chr19:35797505-35798043	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35797242..35798191-chr19:35843391..35844009,2	MCF-7	breast:
2	chr19:35796764..35800582-chr19:36132788..36136056,3	K562	blood:
3	chr19:35757193..35760230-chr19:35795583..35800096,4	K562	blood:
4	chr19:35795438..35798240-chr19:35810195..35811788,2	MCF-7	breast:
5	chr19:35797829..35800128-chr19:35823862..35825668,2	MCF-7	breast:
6	chr19:35780282..35782569-chr19:35797611..35799728,2	MCF-7	breast:
7	chr19:35794837..35799903-chr19:35800719..35807404,10	MCF-7	breast:
8	chr19:35753841..35756119-chr19:35797821..35799359,2	MCF-7	breast:
9	chr19:35759321..35763199-chr19:35795656..35798701,4	MCF-7	breast:
10	chr19:35646046..35647977-chr19:35796625..35798576,2	K562	blood:

No data

Variant related genes	Relation type
MAG	TF binding region
ENSG00000105699	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000105695	Chromatin interaction
ENSG00000012124	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1126770	0.83[ASN][1000 genomes]
rs11666282	0.94[CEU][hapmap]
rs11670792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11673522	0.94[CEU][hapmap]
rs12461927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12463142	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17637981	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs17705279	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs1811170	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285447	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2301600	1.00[YRI][hapmap]
rs720308	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73031717	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
9	nsv9711	chr19:35797190-35805196	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35774800-35809600	Weak transcription	Right Atrium	heart
2	chr19:35791400-35798800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr19:35792800-35801400	Genic enhancers	Brain Hippocampus Middle	brain
4	chr19:35794400-35810000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:35794600-35799400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr19:35795000-35800400	Enhancers	HepG2	liver
7	chr19:35795200-35798800	Weak transcription	Spleen	Spleen
8	chr19:35796000-35798000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr19:35796200-35798000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr19:35796200-35799200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:35796200-35799600	Enhancers	Primary B cells from peripheral blood	blood
12	chr19:35796400-35798200	Enhancers	Liver	Liver
13	chr19:35796800-35800600	Enhancers	Ovary	ovary
14	chr19:35796800-35801000	Weak transcription	Fetal Thymus	thymus
15	chr19:35797000-35799000	Enhancers	GM12878-XiMat	blood
16	chr19:35797000-35800800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:35797200-35798400	Flanking Active TSS	K562	blood
18	chr19:35797200-35799400	Enhancers	Primary hematopoietic stem cells	blood
19	chr19:35797200-35800000	Enhancers	Primary B cells from cord blood	blood
20	chr19:35797200-35802200	Weak transcription	Brain Anterior Caudate	brain
21	chr19:35797600-35804000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:35797800-35798000	Genic enhancers	Brain Cingulate Gyrus	brain
23	chr19:35797800-35798200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr19:35797800-35798800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:35797800-35799000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr19:35797800-35800000	Enhancers	Fetal Lung	lung
27	chr19:35797800-35800200	Enhancers	Fetal Kidney	kidney
28	chr19:35797800-35800800	Genic enhancers	Brain Substantia Nigra	brain
29	chr19:35797800-35809600	Weak transcription	Brain Angular Gyrus	brain

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