Variant report

Variant	rs58561864
Chromosome Location	chr19:36248975-36248976
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	POLR2A	chr19:36248739-36249293	HUVEC	blood vessel:	n/a	n/a
2	RCOR1	chr19:36248776-36249419	K562	blood:	n/a	n/a
3	SIN3A	chr19:36248582-36249584	GM12878	blood:	n/a	chr19:36249080-36249091
4	GABPA	chr19:36248654-36249372	MCF-7	breast:	n/a	chr19:36249057-36249066
5	POLR2A	chr19:36247961-36249593	MCF10A-Er-Src	breast:	n/a	n/a
6	SP2	chr19:36248538-36249204	HepG2	liver:	n/a	chr19:36248970-36248980 chr19:36248843-36248866 chr19:36248908-36248931
7	GABPA	chr19:36248924-36249254	HepG2	liver:	n/a	chr19:36249057-36249066
8	MAX	chr19:36248934-36249633	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr19:36247523-36249660	U87	brain:	n/a	n/a
10	ELK1	chr19:36248364-36249455	Hela-S3	cervix:	n/a	n/a
11	E2F4	chr19:36248438-36249590	MCF10A-Er-Src	breast:	n/a	chr19:36248628-36248637 chr19:36248674-36248683
12	ZNF384	chr19:36248797-36249231	K562	blood:	n/a	n/a
13	SP1	chr19:36248145-36249680	HCT-116	colon:	n/a	chr19:36249017-36249029 chr19:36249018-36249028 chr19:36249014-36249028 chr19:36249456-36249468 chr19:36248961-36248982 chr19:36249019-36249028 chr19:36249018-36249027 chr19:36249017-36249029 chr19:36249017-36249028 chr19:36249019-36249028 chr19:36249018-36249028
14	NANOG	chr19:36248540-36249195	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZC3H11A	chr19:36248811-36249132	K562	blood:	n/a	n/a
16	POLR2A	chr19:36248858-36249384	GM12891	blood:	n/a	n/a
17	TBP	chr19:36248359-36249270	H1-hESC	embryonic stem cell:	n/a	n/a
18	FOSL2	chr19:36248666-36249417	A549	lung:	n/a	chr19:36248678-36248687 chr19:36248679-36248688 chr19:36248839-36248848
19	POLR2A	chr19:36247429-36249863	PANC-1	pancreas:	n/a	n/a
20	EBF1	chr19:36248694-36249051	GM12878	blood:	n/a	n/a
21	MAFF	chr19:36248758-36248986	K562	blood:	n/a	n/a
22	SIX5	chr19:36248836-36249616	H1-hESC	embryonic stem cell:	n/a	chr19:36249248-36249257 chr19:36249246-36249255 chr19:36249244-36249258
23	GABPA	chr19:36248851-36249245	H1-hESC	embryonic stem cell:	n/a	chr19:36249057-36249066
24	TCF12	chr19:36247866-36249803	SK-N-SH	brain:	n/a	chr19:36248579-36248589
25	POLR2A	chr19:36247887-36249617	PFSK-1	brain:	n/a	n/a
26	ETS1	chr19:36248700-36249748	A549	lung:	n/a	chr19:36249244-36249257 chr19:36249245-36249258 chr19:36249092-36249102 chr19:36249479-36249492 chr19:36249091-36249102 chr19:36249480-36249493
27	E2F4	chr19:36248710-36249373	K562	blood:	n/a	n/a
28	IRF3	chr19:36248708-36249073	HepG2	liver:	n/a	chr19:36249017-36249031
29	ELK4	chr19:36248908-36249518	HEK293	kidney:	n/a	n/a
30	PBX3	chr19:36248704-36249003	GM12878	blood:	n/a	chr19:36248844-36248864
31	MAX	chr19:36248806-36249552	GM12878	blood:	n/a	n/a
32	FOS	chr19:36248426-36249150	K562	blood:	n/a	chr19:36248678-36248687 chr19:36248679-36248688 chr19:36248839-36248848
33	POLR2A	chr19:36248968-36249275	A549	lung:	n/a	n/a
34	CHD2	chr19:36248660-36249621	K562	blood:	n/a	n/a
35	USF1	chr19:36248771-36249525	A549	lung:	n/a	n/a
36	POLR2A	chr19:36248877-36249409	GM12891	blood:	n/a	n/a
37	EP300	chr19:36247984-36249247	SK-N-SH	brain:	n/a	n/a
38	GABPA	chr19:36248587-36249682	SK-N-SH	brain:	n/a	chr19:36249057-36249066
39	ATF1	chr19:36248703-36249119	K562	blood:	n/a	n/a
40	POLR2A	chr19:36247565-36249515	PFSK-1	brain:	n/a	n/a
41	FOXM1	chr19:36248548-36249741	GM12878	blood:	n/a	chr19:36249489-36249497
42	REST	chr19:36248756-36249724	H1-neurons	neurons:	n/a	n/a
43	SIX5	chr19:36248946-36249673	GM12878	blood:	n/a	chr19:36249248-36249257 chr19:36249246-36249255 chr19:36249244-36249258
44	YY1	chr19:36248883-36249619	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr19:36243424-36249712	IMR90	lung:	n/a	n/a
46	MAZ	chr19:36248207-36249541	Hela-S3	cervix:	n/a	n/a
47	NFIC	chr19:36248613-36249069	GM12878	blood:	n/a	chr19:36248895-36248923
48	SIX5	chr19:36247941-36249863	A549	lung:	n/a	chr19:36249248-36249257 chr19:36249246-36249255 chr19:36249244-36249258
49	CREB1	chr19:36248248-36249659	A549	lung:	n/a	n/a
50	ZBTB33	chr19:36248654-36249677	SK-N-SH	brain:	n/a	chr19:36249058-36249068

No.	Distal block	Cell Line	Cell type
1	chr11:64037188..64037741-chr19:36248285..36249182,2	NB4	blood:
2	chr15:45878796..45879581-chr19:36248850..36249484,2	Hela-S3	cervix:
3	chr19:36248961..36249527-chr5:126112471..126112982,2	Hela-S3	cervix:
4	chr19:36247404..36252021-chr19:36265348..36272678,7	MCF-7	breast:
5	chr19:36248580..36254743-chr19:36274692..36280659,6	K562	blood:
6	chr19:36206099..36210841-chr19:36246614..36251827,8	MCF-7	breast:
7	chr19:36245255..36250047-chr19:36263979..36267864,8	K562	blood:
8	chr19:36248761..36250845-chr19:36272724..36275459,2	MCF-7	breast:
9	chr19:36231491..36233720-chr19:36248400..36250494,2	MCF-7	breast:
10	chr19:36238866..36244880-chr19:36246037..36252437,21	MCF-7	breast:
11	chr19:36247959..36249985-chr19:36390079..36391606,2	MCF-7	breast:
12	chr19:36247584..36253409-chr19:36264102..36268750,7	K562	blood:

Variant related genes	Relation type
C19orf55	TF binding region
ENSG00000267439	TF binding region
HSPB6	TF binding region
ENSG00000260170	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000267796	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000113368	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000126246	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs107878	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11084828	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11667696	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11670414	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11671520	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11672164	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12151356	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12609803	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17776911	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2293687	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3746278	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3787051	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3848663	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3885794	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3885795	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4806197	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4806198	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4806201	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4806202	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66747537	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr19:36246000-36249800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:36246200-36249400	Active TSS	Aorta	Aorta
3	chr19:36246200-36250000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:36246400-36249800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:36246400-36249800	Active TSS	Rectal Smooth Muscle	rectum
6	chr19:36246400-36250000	Active TSS	Psoas Muscle	Psoas
7	chr19:36246400-36250200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr19:36247200-36249600	Active TSS	Ovary	ovary
9	chr19:36247200-36250000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr19:36247400-36249800	Active TSS	Fetal Kidney	kidney
11	chr19:36247800-36250000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:36248000-36249800	Active TSS	Right Atrium	heart
13	chr19:36248200-36249600	Active TSS	Colon Smooth Muscle	Colon
14	chr19:36248200-36249800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:36248200-36249800	Active TSS	Right Ventricle	heart
16	chr19:36248200-36250200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:36248400-36249400	Active TSS	Brain Angular Gyrus	brain
18	chr19:36248400-36249400	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr19:36248400-36249400	Active TSS	Small Intestine	intestine
20	chr19:36248400-36249600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:36248400-36249600	Active TSS	HSMMtube	muscle
22	chr19:36248400-36249800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr19:36248400-36249800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:36248400-36249800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:36248400-36249800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:36248400-36249800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:36248400-36249800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:36248400-36249800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:36248400-36249800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr19:36248400-36249800	Active TSS	Fetal Lung	lung
31	chr19:36248400-36249800	Active TSS	Left Ventricle	heart
32	chr19:36248400-36249800	Active TSS	Lung	lung
33	chr19:36248400-36249800	Active TSS	Placenta Amnion	Placenta Amnion
34	chr19:36248400-36249800	Active TSS	NHLF	lung
35	chr19:36248400-36250000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:36248400-36250000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:36248400-36250000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr19:36248400-36250000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:36248400-36250000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:36248400-36250000	Active TSS	HepG2	liver
41	chr19:36248400-36250000	Active TSS	K562	blood
42	chr19:36248400-36250200	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr19:36248400-36250200	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr19:36248400-36250600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr19:36248400-36250800	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr19:36248600-36249000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr19:36248600-36249000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:36248600-36249000	Active TSS	Brain Germinal Matrix	brain
49	chr19:36248600-36249400	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr19:36248600-36249400	Active TSS	Primary neutrophils fromperipheralblood	blood

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