Variant report

Variant	rs539123721
Chromosome Location	chr19:40737552-40737553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr19:40737286-40737967	HepG2	liver:	n/a	n/a
2	USF1	chr19:40737303-40737822	A549	lung:	n/a	chr19:40737604-40737615
3	NANOG	chr19:40737412-40737824	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr19:40737439-40737835	HepG2	liver:	n/a	n/a
5	MAZ	chr19:40737479-40738012	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr19:40737443-40738721	K562	blood:	n/a	n/a
7	MAZ	chr19:40737506-40738057	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:40737334-40738016	K562	blood:	n/a	n/a
9	MYBL2	chr19:40737203-40737953	HepG2	liver:	n/a	n/a
10	CCNT2	chr19:40737408-40737770	K562	blood:	n/a	n/a
11	BHLHE40	chr19:40737417-40738011	HepG2	liver:	n/a	n/a
12	CEBPB	chr19:40737551-40737655	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:40737427-40737981	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF1	chr19:40737351-40737833	A549	lung:	n/a	chr19:40737604-40737615
15	TBP	chr19:40737394-40737867	HepG2	liver:	n/a	n/a
16	MAX	chr19:40737143-40738231	A549	lung:	n/a	n/a
17	USF1	chr19:40737363-40737842	H1-hESC	embryonic stem cell:	n/a	chr19:40737604-40737615
18	USF1	chr19:40737274-40737999	ECC-1	luminal epithelium:	n/a	chr19:40737604-40737615
19	POLR2A	chr19:40737316-40738220	GM12891	blood:	n/a	n/a
20	USF1	chr19:40737392-40737864	K562	blood:	n/a	chr19:40737604-40737615
21	ATF3	chr19:40737445-40737756	HepG2	liver:	n/a	n/a
22	ELF1	chr19:40737371-40737745	HepG2	liver:	n/a	n/a
23	ELF1	chr19:40737473-40737754	K562	blood:	n/a	n/a
24	RCOR1	chr19:40737425-40737828	K562	blood:	n/a	n/a
25	HCFC1	chr19:40737424-40737717	K562	blood:	n/a	n/a
26	HDAC2	chr19:40737377-40737787	HepG2	liver:	n/a	n/a
27	POLR2A	chr19:40736946-40739097	HepG2	liver:	n/a	n/a
28	MAX	chr19:40737392-40737920	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr19:40737405-40737932	HepG2	liver:	n/a	n/a
30	E2F6	chr19:40737474-40737697	K562	blood:	n/a	n/a
31	MAX	chr19:40737431-40737787	Hela-S3	cervix:	n/a	n/a
32	MAFK	chr19:40737388-40737903	HepG2	liver:	n/a	n/a
33	MAX	chr19:40737008-40738098	HepG2	liver:	n/a	n/a
34	EP300	chr19:40737492-40737764	HepG2	liver:	n/a	n/a
35	BCL3	chr19:40737149-40738156	A549	lung:	n/a	n/a
36	FOSL2	chr19:40736992-40738185	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr19:40731136-40743299	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr19:40737447-40738161	H1-hESC	embryonic stem cell:	n/a	n/a
39	HNF4A	chr19:40737376-40737824	HepG2	liver:	n/a	chr19:40737648-40737663
40	USF1	chr19:40737300-40737781	K562	blood:	n/a	chr19:40737604-40737615
41	JUND	chr19:40737549-40737702	HepG2	liver:	n/a	n/a
42	USF1	chr19:40737451-40737686	SK-N-SH_RA	brain:	n/a	chr19:40737604-40737615
43	NR2F2	chr19:40737421-40737984	K562	blood:	n/a	n/a
44	TAF1	chr19:40737426-40737865	HepG2	liver:	n/a	n/a
45	CBX3	chr19:40737326-40737811	K562	blood:	n/a	n/a
46	GABPA	chr19:40737450-40737815	HepG2	liver:	n/a	n/a
47	POLR2A	chr19:40737078-40738303	GM12892	blood:	n/a	n/a
48	REST	chr19:40737357-40737815	PFSK-1	brain:	n/a	n/a
49	ZNF143	chr19:40737534-40737825	K562	blood:	n/a	n/a
50	NR2F2	chr19:40737431-40737841	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40736338..40739484-chr19:40789317..40792416,3	MCF-7	breast:
2	chr19:40736321..40741961-chr19:40743077..40747922,9	K562	blood:
3	chr19:40731653..40734118-chr19:40736844..40738544,2	MCF-7	breast:
4	chr19:40737463..40738963-chr19:40741419..40742987,2	MCF-7	breast:
5	chr19:40728992..40731621-chr19:40735864..40738541,3	K562	blood:
6	chr19:40732606..40735043-chr19:40736232..40738956,2	K562	blood:
7	chr19:40735441..40737770-chr19:40748131..40750803,2	MCF-7	breast:
8	chr19:40736720..40741002-chr19:40742937..40745961,5	K562	blood:
9	chr19:40734116..40737610-chr19:40738895..40742001,3	MCF-7	breast:

No data

Variant related genes	Relation type
CNTD2	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000105219	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
6	nsv1062755	chr19:40737463-40758235	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732400-40740800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:40732600-40737600	Weak transcription	Brain Anterior Caudate	brain
3	chr19:40732600-40739000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:40732600-40740400	Weak transcription	Brain Substantia Nigra	brain
5	chr19:40732800-40737600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:40732800-40737600	Weak transcription	Lung	lung
7	chr19:40732800-40737600	Weak transcription	Right Ventricle	heart
8	chr19:40732800-40738000	Weak transcription	Ovary	ovary
9	chr19:40732800-40738000	Weak transcription	Pancreas	Pancrea
10	chr19:40732800-40738000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:40732800-40738400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:40732800-40738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:40732800-40738800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr19:40732800-40739200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:40732800-40740800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:40732800-40740800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:40732800-40740800	Weak transcription	HMEC	breast
18	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:40733000-40737600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:40733000-40738000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr19:40733000-40738000	Weak transcription	Dnd41	blood
22	chr19:40733000-40739000	Enhancers	Placenta	Placenta
23	chr19:40733000-40739000	Weak transcription	Gastric	stomach
24	chr19:40733000-40740800	Weak transcription	GM12878-XiMat	blood
25	chr19:40733600-40738000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:40734000-40737600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:40734000-40742000	Weak transcription	Small Intestine	intestine
28	chr19:40734200-40738600	Weak transcription	Esophagus	oesophagus
29	chr19:40734200-40739000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:40734400-40738000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:40734400-40738000	Weak transcription	Thymus	Thymus
32	chr19:40734400-40738800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr19:40734600-40737800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr19:40734600-40738200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:40734600-40738400	Weak transcription	Fetal Brain Female	brain
36	chr19:40734600-40739000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:40734800-40737600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:40734800-40738200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr19:40734800-40738600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:40734800-40740200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr19:40735000-40738000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr19:40735000-40738400	Weak transcription	Fetal Thymus	thymus
43	chr19:40735000-40738600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:40735000-40740800	Weak transcription	Primary B cells from cord blood	blood
45	chr19:40735200-40737600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:40735200-40738600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:40735200-40738800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:40735400-40737600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr19:40735600-40737800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:40735600-40738400	Enhancers	Adipose Nuclei	Adipose

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