Variant report

Variant	rs372317858
Chromosome Location	chr19:52692573-52692574
allele	C/T
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	MAX	chr19:52692569-52694037	A549	lung:	n/a	chr19:52693618-52693628 chr19:52693289-52693299 chr19:52693254-52693263
2	MXI1	chr19:52692258-52693773	Hela-S3	cervix:	n/a	n/a
3	NFIC	chr19:52692489-52693020	GM12878	blood:	n/a	n/a
4	MAZ	chr19:52692230-52693947	GM12878	blood:	n/a	chr19:52693618-52693628 chr19:52693289-52693299 chr19:52693254-52693263
5	POLR2A	chr19:52692552-52693983	MCF-7	breast:	n/a	n/a
6	NFIC	chr19:52692271-52693629	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr19:52692067-52694881	GM12891	blood:	n/a	n/a
8	TBP	chr19:52692269-52693507	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:52692324-52694327	GM15510	blood:	n/a	n/a
10	POLR2A	chr19:52692475-52694195	IMR90	lung:	n/a	n/a
11	EP300	chr19:52692152-52692660	T-47D	breast:	n/a	n/a
12	ZEB1	chr19:52692392-52692659	GM12878	blood:	n/a	n/a
13	GATA3	chr19:52692198-52692635	SH-SY5Y	brain:	n/a	chr19:52692398-52692410
14	CREB1	chr19:52692458-52693976	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:52692443-52694254	K562	blood:	n/a	n/a
16	SIN3AK20	chr19:52692117-52694086	MCF-7	breast:	n/a	n/a
17	ELF1	chr19:52692348-52693998	GM12878	blood:	n/a	chr19:52693080-52693089
18	POLR2A	chr19:52692031-52693988	H1-hESC	embryonic stem cell:	n/a	n/a
19	FOXM1	chr19:52692507-52694034	GM12878	blood:	n/a	n/a
20	NFATC1	chr19:52692530-52692966	GM12878	blood:	n/a	n/a
21	FOXA2	chr19:52692554-52693639	A549	lung:	n/a	n/a
22	RCOR1	chr19:52692461-52693763	HepG2	liver:	n/a	n/a
23	POLR2A	chr19:52692470-52693812	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr19:52692562-52693856	PANC-1	pancreas:	n/a	n/a
25	RELA	chr19:52692427-52693724	GM19099	blood:	n/a	n/a
26	CHD2	chr19:52692419-52693779	Hela-S3	cervix:	n/a	n/a
27	MTA3	chr19:52692265-52694253	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:52692550-52694079	MCF-7	breast:	n/a	n/a
29	GATA1	chr19:52692327-52694047	PBDE	blood:	n/a	chr19:52693555-52693562 chr19:52692398-52692410 chr19:52693554-52693564 chr19:52693555-52693564 chr19:52693555-52693562 chr19:52693555-52693562
30	POLR2A	chr19:52692392-52694064	PFSK-1	brain:	n/a	n/a
31	TAF1	chr19:52692362-52693009	ECC-1	luminal epithelium:	n/a	n/a
32	SP1	chr19:52692540-52693955	HCT-116	colon:	n/a	chr19:52692985-52693006 chr19:52693150-52693164 chr19:52693133-52693154 chr19:52693618-52693627 chr19:52693614-52693628 chr19:52693259-52693270 chr19:52693153-52693165 chr19:52692807-52692821 chr19:52693617-52693629 chr19:52693153-52693165 chr19:52693210-52693231 chr19:52693617-52693629
33	MAZ	chr19:52691865-52695094	IMR90	lung:	n/a	chr19:52693618-52693628 chr19:52693289-52693299 chr19:52693254-52693263
34	TBP	chr19:52692058-52694098	H1-hESC	embryonic stem cell:	n/a	n/a
35	NRF1	chr19:52692079-52694626	SK-N-SH	brain:	n/a	chr19:52693665-52693674 chr19:52692927-52692938 chr19:52692927-52692938 chr19:52692927-52692941 chr19:52693082-52693089 chr19:52692883-52692894
36	MYC	chr19:52692332-52693841	MCF10A-Er-Src	breast:	n/a	chr19:52693618-52693628 chr19:52693289-52693299 chr19:52693254-52693263
37	REST	chr19:52692168-52694507	H1-neurons	neurons:	n/a	chr19:52693675-52693689 chr19:52693669-52693689 chr19:52693672-52693685 chr19:52693669-52693689
38	POLR2A	chr19:52692178-52695116	H1-hESC	embryonic stem cell:	n/a	n/a
39	REST	chr19:52692544-52693957	A549	lung:	n/a	chr19:52693675-52693689 chr19:52693669-52693689 chr19:52693672-52693685 chr19:52693669-52693689
40	PBX3	chr19:52692465-52693836	SK-N-SH	brain:	n/a	chr19:52692995-52693004
41	GATA2	chr19:52691877-52693850	SH-SY5Y	brain:	n/a	chr19:52693555-52693562 chr19:52692398-52692410 chr19:52693554-52693564 chr19:52693555-52693564 chr19:52693555-52693562 chr19:52693555-52693562
42	POLR2A	chr19:52692490-52693055	GM12878	blood:	n/a	n/a
43	SP1	chr19:52692534-52693987	A549	lung:	n/a	chr19:52692985-52693006 chr19:52693150-52693164 chr19:52693133-52693154 chr19:52693618-52693627 chr19:52693614-52693628 chr19:52693259-52693270 chr19:52693153-52693165 chr19:52692807-52692821 chr19:52693617-52693629 chr19:52693153-52693165 chr19:52693210-52693231 chr19:52693617-52693629
44	PML	chr19:52692394-52694233	GM12878	blood:	n/a	n/a
45	RAD21	chr19:52692366-52693233	Hela-S3	cervix:	n/a	n/a
46	E2F4	chr19:52692504-52693904	K562	blood:	n/a	chr19:52693746-52693755
47	MAX	chr19:52692363-52693782	ECC-1	luminal epithelium:	n/a	chr19:52693618-52693628 chr19:52693289-52693299 chr19:52693254-52693263
48	POLR2A	chr19:52692388-52694321	GM18526	blood:	n/a	n/a
49	POLR2A	chr19:52691879-52695550	GM12878	blood:	n/a	n/a
50	STAT5A	chr19:52692422-52692637	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:52641405..52644253-chr19:52691691..52696539,6	MCF-7	breast:
2	chr19:52598726..52600984-chr19:52691577..52693709,2	MCF-7	breast:
3	chr19:52597423..52599077-chr19:52692134..52694986,2	K562	blood:
4	chr19:52672904..52675094-chr19:52691087..52692994,2	K562	blood:
5	chr1:17221697..17224418-chr19:52692331..52695072,2	MCF-7	breast:
6	chr19:52641479..52644491-chr19:52690575..52695402,7	MCF-7	breast:
7	chr19:52641692..52643573-chr19:52692556..52694474,2	K562	blood:
8	chr19:52671404..52675593-chr19:52690586..52694996,6	MCF-7	breast:
9	chr19:52690613..52692739-chr19:52771560..52774323,2	K562	blood:
10	chr19:52691967..52694543-chr19:52715939..52718199,3	MCF-7	breast:
11	chr19:52691998..52694919-chr19:53605403..53608321,3	K562	blood:
12	chr19:52692325..52695090-chr19:52733176..52735417,3	MCF-7	breast:
13	chr19:52677704..52680219-chr19:52691425..52693169,2	MCF-7	breast:

Variant related genes	Relation type
PPP2R1A	TF binding region
ENSG00000197608	Chromatin interaction
ENSG00000267827	Chromatin interaction
ENSG00000196214	Chromatin interaction
ENSG00000170949	Chromatin interaction
ENSG00000196267	Chromatin interaction
ENSG00000207005	Chromatin interaction
ENSG00000268015	Chromatin interaction
ENSG00000105568	Chromatin interaction
ENSG00000267927	Chromatin interaction
ENSG00000256087	Chromatin interaction
ENSG00000204611	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv580007	chr19:52660279-52693277	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1059417	chr19:52662380-52703801	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv2760529	chr19:52662380-52703813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv21017	chr19:52692555-52696215	Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 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	chr19:52691600-52694600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr19:52691800-52692600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:52691800-52692600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:52691800-52692600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr19:52691800-52692600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:52691800-52692600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:52691800-52692600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr19:52691800-52692600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr19:52691800-52692600	Enhancers	Spleen	Spleen
10	chr19:52691800-52692600	Flanking Active TSS	Dnd41	blood
11	chr19:52691800-52692600	Flanking Active TSS	NHEK	skin
12	chr19:52691800-52694400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:52691800-52694600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:52691800-52694600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:52692000-52692600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:52692000-52692600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:52692000-52692600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:52692000-52692600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:52692000-52692600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr19:52692000-52692600	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr19:52692000-52692600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr19:52692000-52692600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:52692000-52692600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr19:52692000-52692600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr19:52692000-52692600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr19:52692000-52692600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr19:52692000-52692600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr19:52692000-52692600	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr19:52692000-52692600	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr19:52692000-52692600	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr19:52692000-52692600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr19:52692000-52692800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr19:52692000-52692800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:52692000-52692800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:52692000-52692800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr19:52692000-52692800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:52692000-52692800	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr19:52692000-52694200	Active TSS	Right Atrium	heart
39	chr19:52692000-52694400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr19:52692000-52694400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:52692000-52694400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:52692000-52694400	Active TSS	Psoas Muscle	Psoas
43	chr19:52692000-52694600	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr19:52692000-52694600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr19:52692000-52694800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:52692000-52694800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:52692000-52695400	Active TSS	Left Ventricle	heart
48	chr19:52692200-52692600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:52692200-52692600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr19:52692200-52692600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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