Variant report

Variant	rs560924258
Chromosome Location	chr19:18390516-18390517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:466)
CpG islands
(count:0)
Chromatin interactive
region (count:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr19:18388695-18394026	HepG2	liver:	n/a	chr19:18390515-18390530 chr19:18392424-18392439 chr19:18393317-18393332
2	HMGN3	chr19:18390210-18393435	K562	blood:	n/a	n/a
3	ELF1	chr19:18390187-18390640	GM12878	blood:	n/a	n/a
4	ZBTB7A	chr19:18390149-18390635	K562	blood:	n/a	chr19:18390384-18390393
5	RCOR1	chr19:18389492-18390615	K562	blood:	n/a	n/a
6	RAD21	chr19:18390229-18390575	K562	blood:	n/a	n/a
7	MAX	chr19:18390246-18391577	NB4	blood:	n/a	n/a
8	ELF1	chr19:18390107-18390559	A549	lung:	n/a	n/a
9	POLR2A	chr19:18382150-18392613	HepG2	liver:	n/a	n/a
10	HCFC1	chr19:18389403-18391720	Hela-S3	cervix:	n/a	n/a
11	FOSL2	chr19:18390055-18390755	A549	lung:	n/a	n/a
12	POLR2A	chr19:18389487-18390835	SK-N-SH	brain:	n/a	n/a
13	TEAD4	chr19:18390270-18390837	ECC-1	luminal epithelium:	n/a	n/a
14	MAFK	chr19:18389630-18390812	K562	blood:	n/a	chr19:18390000-18390015
15	POLR2A	chr19:18389318-18391619	U87	brain:	n/a	n/a
16	POLR2A	chr19:18390227-18390598	A549	lung:	n/a	n/a
17	POLR2A	chr19:18388084-18394020	GM12891	blood:	n/a	n/a
18	FOXA2	chr19:18390303-18390715	HepG2	liver:	n/a	n/a
19	E2F6	chr19:18390286-18390586	K562	blood:	n/a	chr19:18390511-18390521 chr19:18390359-18390374 chr19:18390359-18390369 chr19:18390530-18390540
20	RAD21	chr19:18390066-18390765	MCF-7	breast:	n/a	n/a
21	ELF1	chr19:18390215-18390719	K562	blood:	n/a	n/a
22	FOS	chr19:18390385-18390680	MCF10A-Er-Src	breast:	n/a	n/a
23	HNF4A	chr19:18390267-18390619	HepG2	liver:	n/a	n/a
24	RFX5	chr19:18390253-18390681	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr19:18388712-18391582	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr19:18388704-18391047	GM12891	blood:	n/a	n/a
27	NFIC	chr19:18390143-18390752	GM12878	blood:	n/a	n/a
28	TBL1XR1	chr19:18389628-18390946	K562	blood:	n/a	n/a
29	CHD2	chr19:18388743-18390759	K562	blood:	n/a	n/a
30	ELK1	chr19:18390481-18390708	K562	blood:	n/a	n/a
31	CHD2	chr19:18390263-18390730	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr19:18388625-18393808	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr19:18390389-18391008	A549	lung:	n/a	n/a
34	POLR2A	chr19:18390143-18390778	ECC-1	luminal epithelium:	n/a	n/a
35	NFIC	chr19:18390227-18390749	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:18388631-18392724	GM12878	blood:	n/a	n/a
37	MAZ	chr19:18389512-18391564	HepG2	liver:	n/a	n/a
38	CTCF	chr19:18390165-18390607	K562	blood:	n/a	n/a
39	ARID3A	chr19:18389818-18390682	HepG2	liver:	n/a	n/a
40	CTCF	chr19:18390055-18390713	K562	blood:	n/a	n/a
41	TBP	chr19:18390247-18390950	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:18390456-18390717	SK-N-SH	brain:	n/a	n/a
43	MBD4	chr19:18389967-18390855	HepG2	liver:	n/a	n/a
44	HA-E2F1	chr19:18390030-18390813	MCF-7	breast:	n/a	chr19:18390511-18390521 chr19:18390359-18390374 chr19:18390359-18390369 chr19:18390530-18390540
45	BCLAF1	chr19:18390116-18391731	GM12878	blood:	n/a	n/a
46	BHLHE40	chr19:18390050-18390583	K562	blood:	n/a	n/a
47	POLR2A	chr19:18388705-18392782	H1-hESC	embryonic stem cell:	n/a	n/a
48	TCF3	chr19:18390178-18390629	GM12878	blood:	n/a	n/a
49	HEY1	chr19:18389943-18390682	HepG2	liver:	n/a	chr19:18390515-18390530
50	TBP	chr19:18390375-18390785	Hela-S3	cervix:	n/a	n/a

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18311216..18316508-chr19:18389022..18394678,9	MCF-7	breast:
2	chr19:18389965..18390859-chr19:18432817..18433745,4	MCF-7	breast:
3	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
4	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
5	chr19:18388423..18395098-chr19:18483334..18487110,13	K562	blood:
6	chr19:18389169..18391132-chr19:18534059..18535898,2	K562	blood:
7	chr19:18388472..18395098-chr19:18481027..18487774,21	K562	blood:
8	chr19:18102794..18104652-chr19:18390002..18391507,2	K562	blood:
9	chr19:18303093..18307365-chr19:18386584..18393500,10	K562	blood:
10	chr19:18313659..18316582-chr19:18386529..18393683,9	K562	blood:
11	chr19:18260692..18269532-chr19:18383927..18395911,19	K562	blood:
12	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
13	chr19:18262621..18264588-chr19:18388729..18391542,2	MCF-7	breast:
14	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
15	chr19:18389852..18391307-chr19:18434096..18435200,12	MCF-7	breast:
16	chr19:18207827..18209431-chr19:18390333..18393371,3	K562	blood:
17	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:
18	chr19:18364058..18367893-chr19:18389808..18392798,4	MCF-7	breast:
19	chr19:18388917..18393354-chr19:18447866..18453758,9	MCF-7	breast:
20	chr19:18390152..18390835-chr19:18402706..18403213,2	Hela-S3	cervix:
21	chr19:18389884..18390601-chr2:71221403..71222099,2	Hela-S3	cervix:
22	chr19:18313702..18316146-chr19:18389721..18392001,2	MCF-7	breast:
23	chr19:18375824..18378589-chr19:18388804..18391228,3	MCF-7	breast:
24	chr19:18223413..18225267-chr19:18389021..18391701,2	MCF-7	breast:
25	chr19:18276990..18278607-chr19:18389377..18392205,2	K562	blood:
26	chr19:18334725..18337698-chr19:18389039..18394023,6	K562	blood:
27	chr19:18390025..18394312-chr19:18496571..18499733,6	MCF-7	breast:
28	chr19:18389320..18390897-chr19:18488070..18489594,2	MCF-7	breast:
29	chr19:17970685..17972578-chr19:18389953..18392713,2	K562	blood:
30	chr19:18389073..18391254-chr19:18491178..18493280,2	K562	blood:
31	chr19:18332417..18336925-chr19:18388887..18394072,11	K562	blood:
32	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
33	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
34	chr19:18389237..18391890-chr19:18553028..18555362,2	K562	blood:
35	chr19:18301148..18305001-chr19:18389528..18394862,10	MCF-7	breast:
36	chr19:18206801..18208746-chr19:18390259..18392773,3	K562	blood:
37	chr19:18389877..18390868-chr19:18433805..18434780,6	K562	blood:
38	chr19:18303589..18305920-chr19:18390305..18393671,4	K562	blood:
39	chr19:18328659..18330867-chr19:18389570..18391557,2	K562	blood:
40	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
41	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
42	chr19:18388723..18391469-chr19:18447700..18450655,3	MCF-7	breast:
43	chr19:18342752..18344966-chr19:18388974..18391959,2	K562	blood:
44	chr19:18389771..18390844-chr19:18438850..18439790,3	K562	blood:
45	chr19:18300044..18302631-chr19:18389476..18391618,2	K562	blood:
46	chr19:18361226..18363795-chr19:18390470..18392704,3	MCF-7	breast:
47	chr19:18263876..18266605-chr19:18389709..18392510,4	K562	blood:
48	chr19:18311642..18316628-chr19:18388957..18392513,10	K562	blood:
49	chr19:18390145..18394362-chr19:18451018..18457221,11	MCF-7	breast:

No data

Variant related genes	Relation type
MIR3188	TF binding region
ENSG00000264175	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000228384	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000256989	Chromatin interaction
ENSG00000258881	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000144043	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000130517	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
6	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
7	nsv911268	chr19:18351674-18395537	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
8	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
9	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
10	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
11	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
12	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS 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	117 gene(s)	inside rSNPs	diseases
13	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
14	nsv578744	chr19:18380072-18392873	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
15	esv1793726	chr19:18381600-18400786	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	104 gene(s)	inside rSNPs	diseases
16	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases
17	esv18473	chr19:18390503-18393159	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	96 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	chr19:18388800-18390600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
2	chr19:18388800-18390800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:18388800-18390800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
4	chr19:18388800-18391600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:18388800-18391600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
6	chr19:18389000-18390600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
7	chr19:18389000-18390600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
10	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr19:18389000-18392000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
12	chr19:18389000-18392200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
13	chr19:18389000-18392200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
14	chr19:18389600-18392400	Active TSS	HSMMtube	muscle
15	chr19:18389800-18393200	Active TSS	Aorta	Aorta
16	chr19:18389800-18393200	Active TSS	Small Intestine	intestine
17	chr19:18389800-18393600	Active TSS	Ovary	ovary
18	chr19:18389800-18393800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:18390000-18391200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:18390000-18391200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:18390000-18391400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr19:18390000-18392200	Active TSS	Placenta Amnion	Placenta Amnion
23	chr19:18390000-18392400	Active TSS	Gastric	stomach
24	chr19:18390000-18393000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:18390000-18393200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:18390000-18393200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:18390000-18393400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:18390000-18393600	Active TSS	Esophagus	oesophagus
29	chr19:18390000-18393800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr19:18390000-18394000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:18390200-18390600	Flanking Active TSS	Fetal Brain Male	brain
32	chr19:18390200-18390600	Weak transcription	Spleen	Spleen
33	chr19:18390200-18391200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:18390200-18391200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:18390200-18392000	Active TSS	Right Atrium	heart
36	chr19:18390200-18392200	Active TSS	Fetal Kidney	kidney
37	chr19:18390200-18392200	Active TSS	Fetal Lung	lung
38	chr19:18390200-18392200	Active TSS	Stomach Mucosa	stomach
39	chr19:18390200-18392400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:18390200-18392400	Active TSS	NH-A	brain
41	chr19:18390200-18392400	Active TSS	NHLF	lung
42	chr19:18390200-18393000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:18390200-18393000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:18390200-18393000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:18390200-18393000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:18390200-18393000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr19:18390200-18393000	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr19:18390200-18393000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:18390200-18393000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:18390200-18393000	Active TSS	Brain Substantia Nigra	brain

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