Variant report

Variant	rs537766584
Chromosome Location	chr19:40790987-40790988
allele	C/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	chr19:40789333-40791875	GM12878	blood:	n/a	n/a
2	GABPA	chr19:40790770-40791577	HepG2	liver:	n/a	chr19:40791515-40791526 chr19:40790811-40790820 chr19:40791428-40791439 chr19:40791071-40791085 chr19:40791425-40791439 chr19:40791515-40791529 chr19:40791428-40791442 chr19:40791512-40791526 chr19:40791430-40791439
3	POLR2A	chr19:40790287-40791908	K562	blood:	n/a	n/a
4	TBL1XR1	chr19:40790675-40791908	K562	blood:	n/a	n/a
5	SIN3AK20	chr19:40790875-40791239	A549	lung:	n/a	n/a
6	EGR1	chr19:40790445-40791565	K562	blood:	n/a	chr19:40790927-40790936 chr19:40791429-40791438 chr19:40791049-40791059 chr19:40790810-40790820 chr19:40791339-40791348 chr19:40790805-40790818 chr19:40790926-40790939 chr19:40790925-40790939 chr19:40790940-40790950 chr19:40790927-40790937 chr19:40791121-40791135 chr19:40790818-40790827 chr19:40790926-40790939 chr19:40790862-40790872 chr19:40791516-40791525 chr19:40790926-40790939 chr19:40790926-40790939 chr19:40791048-40791063 chr19:40790764-40790773
7	TBL1XR1	chr19:40790216-40791906	GM12878	blood:	n/a	n/a
8	GATA3	chr19:40789997-40792033	A549	lung:	n/a	chr19:40791339-40791349
9	MAX	chr19:40790296-40791932	HepG2	liver:	n/a	chr19:40791049-40791059
10	POLR2A	chr19:40789941-40791876	K562	blood:	n/a	n/a
11	POLR2A	chr19:40790235-40791927	Hela-S3	cervix:	n/a	n/a
12	FOXA1	chr19:40790839-40791150	ECC-1	luminal epithelium:	n/a	n/a
13	EGR1	chr19:40790826-40791242	GM12878	blood:	n/a	chr19:40790927-40790936 chr19:40791049-40791059 chr19:40790926-40790939 chr19:40790925-40790939 chr19:40790940-40790950 chr19:40790927-40790937 chr19:40791121-40791135 chr19:40790926-40790939 chr19:40790862-40790872 chr19:40790926-40790939 chr19:40790926-40790939 chr19:40791048-40791063
14	SMC3	chr19:40790981-40791141	K562	blood:	n/a	n/a
15	POLR2A	chr19:40788195-40792187	SK-N-MC	brain:	n/a	n/a
16	BACH1	chr19:40790565-40791170	H1-hESC	embryonic stem cell:	n/a	n/a
17	GABPA	chr19:40790539-40791721	K562	blood:	n/a	chr19:40791515-40791526 chr19:40790811-40790820 chr19:40791428-40791439 chr19:40791071-40791085 chr19:40791425-40791439 chr19:40791515-40791529 chr19:40791428-40791442 chr19:40791512-40791526 chr19:40791430-40791439
18	POLR2A	chr19:40790163-40791870	GM15510	blood:	n/a	n/a
19	ETS1	chr19:40790490-40791384	K562	blood:	n/a	chr19:40790925-40790936 chr19:40791339-40791348 chr19:40790835-40790848 chr19:40791049-40791060 chr19:40791339-40791353 chr19:40791340-40791351 chr19:40791335-40791351
20	POLR2A	chr19:40790631-40791236	HCT-116	colon:	n/a	n/a
21	MYC	chr19:40790245-40791846	K562	blood:	n/a	chr19:40791049-40791059
22	MYC	chr19:40790638-40791326	MCF-7	breast:	n/a	chr19:40791049-40791059
23	POLR2A	chr19:40789385-40791876	GM12878	blood:	n/a	n/a
24	HDAC2	chr19:40790666-40791228	HepG2	liver:	n/a	chr19:40790800-40790808
25	POLR2A	chr19:40790902-40791934	HCT-116	colon:	n/a	n/a
26	TAF1	chr19:40790618-40791303	HepG2	liver:	n/a	n/a
27	EP300	chr19:40790379-40791903	A549	lung:	n/a	chr19:40791338-40791347 chr19:40790813-40790829
28	MAX	chr19:40790489-40791816	Hela-S3	cervix:	n/a	chr19:40791049-40791059
29	E2F6	chr19:40790685-40791634	K562	blood:	n/a	chr19:40791516-40791525 chr19:40790705-40790712 chr19:40790740-40790749 chr19:40791321-40791336 chr19:40790805-40790815 chr19:40791429-40791438
30	POLR2A	chr19:40790467-40791954	H1-neurons	neurons:	n/a	n/a
31	ZNF143	chr19:40790939-40791945	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr19:40790578-40791794	HepG2	liver:	n/a	n/a
33	HDAC2	chr19:40790711-40791289	K562	blood:	n/a	chr19:40790800-40790808
34	YY1	chr19:40790930-40791221	HCT-116	colon:	n/a	n/a
35	ZBTB7A	chr19:40790716-40791261	K562	blood:	n/a	chr19:40791028-40791036 chr19:40790741-40790750
36	TAF1	chr19:40790309-40791915	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:40790921-40791247	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:40790735-40791946	PFSK-1	brain:	n/a	n/a
39	MAZ	chr19:40790136-40791904	K562	blood:	n/a	chr19:40791049-40791059
40	BCL3	chr19:40790863-40792100	A549	lung:	n/a	chr19:40791339-40791348 chr19:40790928-40790941
41	MYC	chr19:40790609-40791970	NB4	blood:	n/a	chr19:40791049-40791059
42	ZBTB7A	chr19:40790336-40791375	ECC-1	luminal epithelium:	n/a	chr19:40791028-40791036 chr19:40790741-40790750
43	POLR2A	chr19:40790727-40791232	HUVEC	blood vessel:	n/a	n/a
44	MXI1	chr19:40790475-40791843	HepG2	liver:	n/a	n/a
45	CTCF	chr19:40790920-40791070	AG04449	skin:	n/a	n/a
46	POLR2A	chr19:40788136-40791242	GM12878	blood:	n/a	n/a
47	JUND	chr19:40790800-40791229	H1-hESC	embryonic stem cell:	n/a	n/a
48	JUND	chr19:40790545-40791858	A549	lung:	n/a	n/a
49	POLR2A	chr19:40790330-40791963	Raji	blood:	n/a	n/a
50	PAX5	chr19:40790693-40791359	GM12892	blood:	n/a	chr19:40791339-40791348

No.	Distal block	Cell Line	Cell type
1	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
2	chr19:40789879..40793059-chr19:40870323..40872928,3	K562	blood:
3	chr19:40746630..40748490-chr19:40790537..40793116,2	MCF-7	breast:
4	chr19:40790406..40791402-chr22:50968889..50969883,2	Hela-S3	cervix:
5	chr19:40790880..40792731-chr19:40929438..40932853,4	K562	blood:
6	chr19:40790365..40793125-chr19:40949596..40951580,2	K562	blood:
7	chr19:40789948..40791553-chr19:41119261..41121070,2	K562	blood:
8	chr19:40788680..40791212-chr19:40852795..40854366,2	K562	blood:

Variant related genes	Relation type
AKT2	TF binding region
MIR641	TF binding region
ENSG00000105223	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000197019	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000160392	Chromatin interaction
ENSG00000177989	Chromatin interaction
ENSG00000167565	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3373348	chr19:40789637-40792485	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	esv3366050	chr19:40790162-40792260	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 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	chr19:40789400-40791800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:40789600-40791600	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr19:40789600-40792000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr19:40789600-40792200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:40789800-40791000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:40789800-40791200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:40789800-40791600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:40789800-40791600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:40789800-40791800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:40790000-40791200	Active TSS	Gastric	stomach
11	chr19:40790000-40791600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:40790000-40791600	Active TSS	Fetal Kidney	kidney
13	chr19:40790000-40791800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:40790000-40791800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:40790000-40792000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:40790000-40792000	Active TSS	Ovary	ovary
17	chr19:40790000-40792200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr19:40790000-40792400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:40790200-40791400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:40790200-40791400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:40790200-40791600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:40790200-40791600	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr19:40790200-40791600	Active TSS	Lung	lung
24	chr19:40790200-40791600	Active TSS	A549	lung
25	chr19:40790200-40791600	Active TSS	K562	blood
26	chr19:40790200-40791600	Active TSS	NHLF	lung
27	chr19:40790200-40791800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr19:40790200-40791800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr19:40790200-40791800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:40790200-40791800	Active TSS	Esophagus	oesophagus
31	chr19:40790200-40791800	Active TSS	GM12878-XiMat	blood
32	chr19:40790200-40792000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr19:40790200-40792000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:40790200-40792000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:40790200-40792000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:40790200-40792000	Active TSS	Aorta	Aorta
37	chr19:40790200-40792000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:40790200-40792000	Active TSS	Left Ventricle	heart
39	chr19:40790200-40792000	Active TSS	Psoas Muscle	Psoas
40	chr19:40790200-40792000	Active TSS	Right Ventricle	heart
41	chr19:40790200-40792200	Active TSS	Thymus	Thymus
42	chr19:40790400-40791000	Active TSS	Primary hematopoietic stem cells	blood
43	chr19:40790400-40791000	Active TSS	Right Atrium	heart
44	chr19:40790400-40791200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:40790400-40791400	Active TSS	Fetal Intestine Small	intestine
46	chr19:40790400-40791400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr19:40790400-40791400	Active TSS	Small Intestine	intestine
48	chr19:40790400-40791600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr19:40790400-40791600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:40790400-40791600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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