Variant report

Variant	rs537454506
Chromosome Location	chr19:51842411-51842412
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	POLR2A	chr19:51841918-51843718	K562	blood:	n/a	n/a
2	TAF1	chr19:51842029-51842522	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:51842083-51842507	A549	lung:	n/a	n/a
4	MAZ	chr19:51841761-51844263	K562	blood:	n/a	chr19:51843203-51843213 chr19:51842127-51842137 chr19:51841906-51841913 chr19:51843926-51843936
5	MAX	chr19:51841982-51842431	SK-N-SH	brain:	n/a	chr19:51842127-51842137
6	RAD21	chr19:51841806-51842508	MCF-7	breast:	n/a	n/a
7	SIN3AK20	chr19:51842144-51842527	H1-hESC	embryonic stem cell:	n/a	n/a
8	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
9	POLR2A	chr19:51842029-51842539	H1-neurons	neurons:	n/a	n/a
10	MAX	chr19:51841755-51842449	NB4	blood:	n/a	chr19:51842127-51842137 chr19:51841906-51841913
11	RAD21	chr19:51841824-51842555	A549	lung:	n/a	n/a
12	MAZ	chr19:51841983-51843582	GM12878	blood:	n/a	chr19:51843203-51843213 chr19:51842127-51842137
13	E2F6	chr19:51841698-51842434	A549	lung:	n/a	chr19:51842093-51842104
14	YY1	chr19:51842002-51842612	SK-N-SH_RA	brain:	n/a	n/a
15	SMC3	chr19:51841807-51842625	GM12878	blood:	n/a	n/a
16	JUND	chr19:51841996-51842418	K562	blood:	n/a	n/a
17	SIN3AK20	chr19:51842055-51842423	PANC-1	pancreas:	n/a	n/a
18	ZKSCAN1	chr19:51842081-51842470	Hela-S3	cervix:	n/a	n/a
19	SP1	chr19:51842309-51842905	H1-hESC	embryonic stem cell:	n/a	chr19:51842831-51842840 chr19:51842829-51842841 chr19:51842452-51842461 chr19:51842450-51842462 chr19:51842450-51842462 chr19:51842491-51842500 chr19:51842814-51842821 chr19:51842451-51842465 chr19:51842451-51842460 chr19:51842671-51842682 chr19:51842830-51842840 chr19:51842829-51842841
20	YY1	chr19:51842002-51842523	GM12892	blood:	n/a	n/a
21	SIN3AK20	chr19:51842057-51842421	PFSK-1	brain:	n/a	n/a
22	E2F4	chr19:51842037-51842647	MCF10A-Er-Src	breast:	n/a	chr19:51842452-51842461
23	RAD21	chr19:51841965-51842436	HepG2	liver:	n/a	n/a
24	RAD21	chr19:51841891-51842426	A549	lung:	n/a	n/a
25	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
26	RAD21	chr19:51841908-51842518	ECC-1	luminal epithelium:	n/a	n/a
27	CREB1	chr19:51841903-51842549	A549	lung:	n/a	n/a
28	BCL3	chr19:51842068-51843074	A549	lung:	n/a	chr19:51842574-51842587 chr19:51842634-51842643
29	POLR2A	chr19:51842283-51844002	HepG2	liver:	n/a	n/a
30	POLR2A	chr19:51842084-51842631	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr19:51841898-51842442	MCF-7	breast:	n/a	n/a
32	POLR2A	chr19:51841814-51851408	HepG2	liver:	n/a	n/a
33	HMGN3	chr19:51841936-51842487	K562	blood:	n/a	n/a
34	RCOR1	chr19:51841942-51843877	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr19:51842153-51842464	MCF-7	breast:	n/a	n/a
36	FOSL2	chr19:51841742-51842965	A549	lung:	n/a	chr19:51842877-51842886 chr19:51842453-51842462 chr19:51842826-51842836
37	MAX	chr19:51841727-51842604	K562	blood:	n/a	chr19:51842127-51842137 chr19:51841906-51841913
38	EP300	chr19:51841809-51842924	K562	blood:	n/a	chr19:51842508-51842521 chr19:51842435-51842449 chr19:51842453-51842469
39	SIN3A	chr19:51841890-51843995	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr19:51841994-51842584	H1-hESC	embryonic stem cell:	n/a	n/a
41	YY1	chr19:51842016-51842608	A549	lung:	n/a	n/a
42	TBP	chr19:51841994-51842557	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:51841838-51842758	H1-hESC	embryonic stem cell:	n/a	n/a
44	NR2F2	chr19:51841639-51842582	K562	blood:	n/a	n/a
45	RAD21	chr19:51841961-51842416	GM12878	blood:	n/a	n/a
46	MAX	chr19:51841951-51842434	SK-N-SH	brain:	n/a	chr19:51842127-51842137
47	RCOR1	chr19:51842050-51842524	HepG2	liver:	n/a	n/a
48	POLR2A	chr19:51842005-51842477	HCT-116	colon:	n/a	n/a
49	POLR2A	chr19:51842062-51842641	A549	lung:	n/a	n/a
50	MAZ	chr19:51842052-51842702	Hela-S3	cervix:	n/a	chr19:51842127-51842137

No.	Distal block	Cell Line	Cell type
1	chr19:51841257..51845442-chr19:51896216..51899567,12	K562	blood:
2	chr19:51841684..51842506-chr19:51897336..51897848,2	K562	blood:
3	chr19:51661756..51662526-chr19:51841495..51842430,2	K562	blood:
4	chr19:51841314..51846809-chr19:51868154..51872523,19	K562	blood:
5	chr19:51841175..51847735-chr19:51867771..51872496,21	MCF-7	breast:
6	chr19:51841279..51843677-chr19:51919444..51921911,2	K562	blood:
7	chr19:51841626..51842658-chr19:51941287..51942856,6	MCF-7	breast:
8	chr19:51841958..51842666-chr19:51941896..51943104,5	MCF-7	breast:
9	chr19:51841483..51843929-chr19:51917621..51920239,2	K562	blood:
10	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
11	chr19:51841410..51842759-chr19:51910739..51912174,8	K562	blood:
12	chr19:51841590..51847683-chr19:51867906..51872035,11	MCF-7	breast:
13	chr19:51841717..51843747-chr19:51891710..51894546,2	K562	blood:
14	chr19:51841780..51842675-chr19:51910687..51911648,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267905	TF binding region
ENSG00000255441	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000142512	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000262874	Chromatin interaction
ENSG00000160318	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	chr19:51841600-51842600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr19:51841600-51842600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:51841600-51843200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:51841800-51842600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:51841800-51842600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr19:51841800-51842600	Active TSS	GM12878-XiMat	blood
7	chr19:51841800-51842600	Active TSS	HSMM	muscle
8	chr19:51841800-51842600	Active TSS	NHEK	skin
9	chr19:51841800-51842800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr19:51841800-51843000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr19:51841800-51843000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr19:51841800-51843000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:51841800-51843000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr19:51841800-51843000	Active TSS	Fetal Kidney	kidney
15	chr19:51841800-51843000	Flanking Active TSS	Dnd41	blood
16	chr19:51841800-51843000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr19:51841800-51843200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:51841800-51843200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr19:51841800-51843400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:51841800-51843600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:51841800-51843600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:51841800-51843600	Active TSS	Fetal Intestine Small	intestine
23	chr19:51841800-51843800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr19:51841800-51843800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr19:51841800-51843800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr19:51841800-51843800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr19:51841800-51843800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:51841800-51844000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr19:51841800-51844000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:51841800-51844000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:51841800-51844200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:51842000-51842600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:51842000-51842600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr19:51842000-51842600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:51842000-51842600	Active TSS	Duodenum Mucosa	Duodenum
36	chr19:51842000-51842600	Active TSS	Fetal Intestine Large	intestine
37	chr19:51842000-51842600	Flanking Active TSS	Fetal Thymus	thymus
38	chr19:51842000-51842600	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr19:51842000-51842600	Active TSS	HMEC	breast
40	chr19:51842000-51842600	Active TSS	NHDF-Ad	bronchial
41	chr19:51842000-51842600	Active TSS	NHLF	lung
42	chr19:51842000-51843000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr19:51842000-51843000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr19:51842000-51843000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr19:51842000-51843000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:51842000-51843000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:51842000-51843000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr19:51842000-51843000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr19:51842000-51843000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr19:51842000-51843000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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