Variant report

Variant	rs576419181
Chromosome Location	chr19:51842935-51842936
allele	A/C
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	chr19:51841918-51843718	K562	blood:	n/a	n/a
2	ZEB1	chr19:51842599-51843131	GM12878	blood:	n/a	n/a
3	MAZ	chr19:51841761-51844263	K562	blood:	n/a	chr19:51843203-51843213 chr19:51842127-51842137 chr19:51841906-51841913 chr19:51843926-51843936
4	SP4	chr19:51842394-51843471	H1-hESC	embryonic stem cell:	n/a	chr19:51842827-51842843 chr19:51843200-51843216 chr19:51843219-51843235 chr19:51842829-51842845 chr19:51843217-51843233 chr19:51842671-51842682 chr19:51843047-51843063
5	IRF1	chr19:51842834-51843832	K562	blood:	n/a	chr19:51843200-51843214 chr19:51843047-51843061 chr19:51843217-51843231
6	MAZ	chr19:51842923-51843948	Hela-S3	cervix:	n/a	chr19:51843203-51843213 chr19:51843926-51843936
7	STAT5A	chr19:51842671-51843111	GM12878	blood:	n/a	n/a
8	MAZ	chr19:51841983-51843582	GM12878	blood:	n/a	chr19:51843203-51843213 chr19:51842127-51842137
9	POLR2A	chr19:51842868-51844090	A549	lung:	n/a	n/a
10	GTF2F1	chr19:51842840-51843323	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr19:51842867-51843632	HCT-116	colon:	n/a	n/a
12	POLR2A	chr19:51842928-51843774	MCF-7	breast:	n/a	n/a
13	STAT1	chr19:51842899-51843578	GM12878	blood:	n/a	n/a
14	TEAD4	chr19:51842837-51843415	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr19:51842863-51843607	HepG2	liver:	n/a	n/a
16	SP1	chr19:51841901-51843574	A549	lung:	n/a	chr19:51843556-51843570 chr19:51843049-51843061 chr19:51843220-51843230 chr19:51843049-51843061 chr19:51842831-51842840 chr19:51843203-51843212 chr19:51843219-51843231 chr19:51843219-51843231 chr19:51843202-51843214 chr19:51842829-51842841 chr19:51843050-51843059 chr19:51843204-51843213 chr19:51843221-51843230 chr19:51842452-51842461 chr19:51842450-51842462 chr19:51843220-51843229 chr19:51843220-51843234 chr19:51843220-51843229 chr19:51842450-51842462 chr19:51842491-51842500 chr19:51842814-51842821 chr19:51842451-51842465 chr19:51842451-51842460 chr19:51842671-51842682 chr19:51842830-51842840 chr19:51843203-51843213 chr19:51843050-51843064 chr19:51843202-51843214 chr19:51842829-51842841 chr19:51843225-51843239 chr19:51843220-51843230
17	BCL3	chr19:51842068-51843074	A549	lung:	n/a	chr19:51842574-51842587 chr19:51842634-51842643
18	PBX3	chr19:51842744-51843296	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr19:51842283-51844002	HepG2	liver:	n/a	n/a
20	MAX	chr19:51842736-51843999	HepG2	liver:	n/a	chr19:51843203-51843213 chr19:51843926-51843936
21	POLR2A	chr19:51841814-51851408	HepG2	liver:	n/a	n/a
22	BRCA1	chr19:51842890-51843571	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr19:51841942-51843877	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr19:51842859-51843969	K562	blood:	n/a	n/a
25	FOSL2	chr19:51841742-51842965	A549	lung:	n/a	chr19:51842877-51842886 chr19:51842453-51842462 chr19:51842826-51842836
26	POLR2A	chr19:51842818-51843683	U87	brain:	n/a	n/a
27	POLR2A	chr19:51842878-51844694	A549	lung:	n/a	n/a
28	SIN3A	chr19:51841890-51843995	H1-hESC	embryonic stem cell:	n/a	n/a
29	BHLHE40	chr19:51842591-51843923	K562	blood:	n/a	n/a
30	POLR2A	chr19:51842867-51843901	Hela-S3	cervix:	n/a	n/a
31	SMC3	chr19:51842820-51842979	HepG2	liver:	n/a	n/a
32	CREB1	chr19:51842806-51843960	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr19:51842934-51844060	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr19:51842863-51843614	GM12878	blood:	n/a	chr19:51843556-51843570 chr19:51843049-51843061 chr19:51843220-51843230 chr19:51843049-51843061 chr19:51843203-51843212 chr19:51843219-51843231 chr19:51843219-51843231 chr19:51843202-51843214 chr19:51843050-51843059 chr19:51843204-51843213 chr19:51843221-51843230 chr19:51843220-51843229 chr19:51843220-51843234 chr19:51843220-51843229 chr19:51843203-51843213 chr19:51843050-51843064 chr19:51843202-51843214 chr19:51843225-51843239 chr19:51843220-51843230
35	MAZ	chr19:51841807-51844122	IMR90	lung:	n/a	chr19:51843203-51843213 chr19:51842127-51842137 chr19:51841906-51841913 chr19:51843926-51843936
36	TBP	chr19:51841751-51843937	K562	blood:	n/a	n/a
37	POLR2A	chr19:51842921-51843522	MCF10A-Er-Src	breast:	n/a	n/a
38	HCFC1	chr19:51841877-51844023	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr19:51841729-51843936	IMR90	lung:	n/a	n/a
40	SP4	chr19:51841903-51843519	H1-hESC	embryonic stem cell:	n/a	chr19:51842827-51842843 chr19:51843200-51843216 chr19:51842122-51842138 chr19:51843219-51843235 chr19:51842829-51842845 chr19:51843217-51843233 chr19:51842671-51842682 chr19:51843047-51843063
41	TCF12	chr19:51841794-51844228	A549	lung:	n/a	chr19:51843783-51843793
42	RCOR1	chr19:51842639-51843434	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:51842824-51843877	K562	blood:	n/a	n/a
44	PBX3	chr19:51842731-51843309	SK-N-SH	brain:	n/a	n/a
45	MXI1	chr19:51841395-51844121	SK-N-SH	brain:	n/a	n/a
46	CHD2	chr19:51842932-51843612	Hela-S3	cervix:	n/a	n/a
47	REST	chr19:51842435-51843072	A549	lung:	n/a	n/a
48	IRF1	chr19:51841769-51843502	K562	blood:	n/a	chr19:51842448-51842462 chr19:51843200-51843214 chr19:51842827-51842841 chr19:51842635-51842644 chr19:51843047-51843061 chr19:51843217-51843231
49	POLR2A	chr19:51842834-51843847	K562	blood:	n/a	n/a
50	POLR2A	chr19:51842910-51843633	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51841257..51845442-chr19:51896216..51899567,12	K562	blood:
2	chr19:51841314..51846809-chr19:51868154..51872523,19	K562	blood:
3	chr19:51841175..51847735-chr19:51867771..51872496,21	MCF-7	breast:
4	chr19:51841279..51843677-chr19:51919444..51921911,2	K562	blood:
5	chr19:51841483..51843929-chr19:51917621..51920239,2	K562	blood:
6	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
7	chr19:51841590..51847683-chr19:51867906..51872035,11	MCF-7	breast:
8	chr19:51841717..51843747-chr19:51891710..51894546,2	K562	blood:

Variant related genes	Relation type
ENSG00000267905	TF binding region
ENSG00000160318	Chromatin interaction
ENSG00000262874	Chromatin interaction
ENSG00000255441	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000142512	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1813225	chr19:51821612-51888813	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	esv3380303	chr19:51842165-51844913	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr19:51841600-51843200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:51841800-51843000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr19:51841800-51843000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr19:51841800-51843000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:51841800-51843000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr19:51841800-51843000	Active TSS	Fetal Kidney	kidney
7	chr19:51841800-51843000	Flanking Active TSS	Dnd41	blood
8	chr19:51841800-51843000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:51841800-51843200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:51841800-51843200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr19:51841800-51843400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:51841800-51843600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr19:51841800-51843600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr19:51841800-51843600	Active TSS	Fetal Intestine Small	intestine
15	chr19:51841800-51843800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:51841800-51843800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:51841800-51843800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr19:51841800-51843800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr19:51841800-51843800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:51841800-51844000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr19:51841800-51844000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:51841800-51844000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr19:51841800-51844200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:51842000-51843000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr19:51842000-51843000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr19:51842000-51843000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr19:51842000-51843000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:51842000-51843000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:51842000-51843000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr19:51842000-51843000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr19:51842000-51843000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr19:51842000-51843000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr19:51842000-51843000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr19:51842000-51843200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:51842000-51843200	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr19:51842000-51843200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr19:51842000-51843200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr19:51842000-51843200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr19:51842000-51843400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:51842000-51843600	Active TSS	H1 Cell Line	embryonic stem cell
41	chr19:51842000-51843600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:51842000-51843600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr19:51842000-51843600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr19:51842000-51843600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:51842000-51843600	Active TSS	Psoas Muscle	Psoas
46	chr19:51842000-51843600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr19:51842000-51843600	Active TSS	Right Ventricle	heart
48	chr19:51842000-51843800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:51842000-51843800	Active TSS	Brain Anterior Caudate	brain
50	chr19:51842000-51843800	Active TSS	Brain Cingulate Gyrus	brain

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