Variant report

Variant	rs570111225
Chromosome Location	chr19:40791402-40791403
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	RCOR1	chr19:40791026-40791986	K562	blood:	n/a	n/a
2	POLR2A	chr19:40789333-40791875	GM12878	blood:	n/a	n/a
3	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
4	POLR2A	chr19:40790287-40791908	K562	blood:	n/a	n/a
5	TBL1XR1	chr19:40790675-40791908	K562	blood:	n/a	n/a
6	EP300	chr19:40790994-40791879	K562	blood:	n/a	chr19:40791338-40791347
7	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
8	ELF1	chr19:40791149-40791706	HepG2	liver:	n/a	chr19:40791337-40791348
9	MAX	chr19:40791262-40791756	MCF-7	breast:	n/a	n/a
10	TBL1XR1	chr19:40790216-40791906	GM12878	blood:	n/a	n/a
11	SP1	chr19:40791288-40791873	GM12878	blood:	n/a	n/a
12	GATA3	chr19:40789997-40792033	A549	lung:	n/a	chr19:40791339-40791349
13	CBX3	chr19:40791287-40791973	K562	blood:	n/a	n/a
14	MAX	chr19:40790296-40791932	HepG2	liver:	n/a	chr19:40791049-40791059
15	POLR2A	chr19:40789941-40791876	K562	blood:	n/a	n/a
16	POLR2A	chr19:40790235-40791927	Hela-S3	cervix:	n/a	n/a
17	SIX5	chr19:40791266-40791968	A549	lung:	n/a	n/a
18	POLR2A	chr19:40788195-40792187	SK-N-MC	brain:	n/a	n/a
19	NFYB	chr19:40791313-40791569	GM12878	blood:	n/a	n/a
20	FOXA1	chr19:40791325-40791865	HepG2	liver:	n/a	n/a
21	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
22	FOXM1	chr19:40791299-40791849	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:40790163-40791870	GM15510	blood:	n/a	n/a
24	TAF1	chr19:40791263-40791801	SK-N-SH	brain:	n/a	n/a
25	GABPA	chr19:40791166-40791826	H1-hESC	embryonic stem cell:	n/a	chr19:40791515-40791526 chr19:40791428-40791439 chr19:40791425-40791439 chr19:40791515-40791529 chr19:40791428-40791442 chr19:40791512-40791526 chr19:40791430-40791439
26	MYC	chr19:40790245-40791846	K562	blood:	n/a	chr19:40791049-40791059
27	STAT3	chr19:40791371-40791804	MCF10A-Er-Src	breast:	n/a	chr19:40791681-40791692 chr19:40791573-40791584 chr19:40791569-40791589
28	FOS	chr19:40791389-40791747	MCF10A-Er-Src	breast:	n/a	n/a
29	MYBL2	chr19:40791312-40792001	HepG2	liver:	n/a	n/a
30	POLR2A	chr19:40789385-40791876	GM12878	blood:	n/a	n/a
31	HEY1	chr19:40791379-40791787	HepG2	liver:	n/a	n/a
32	POLR2A	chr19:40790902-40791934	HCT-116	colon:	n/a	n/a
33	ELF1	chr19:40791177-40791759	HepG2	liver:	n/a	chr19:40791337-40791348
34	EP300	chr19:40790379-40791903	A549	lung:	n/a	chr19:40791338-40791347 chr19:40790813-40790829
35	TCF7L2	chr19:40791015-40792058	HEK293	kidney:	n/a	chr19:40791604-40791618 chr19:40791607-40791617 chr19:40791603-40791619 chr19:40791604-40791618 chr19:40791603-40791619 chr19:40791607-40791616
36	USF2	chr19:40791401-40791753	Hela-S3	cervix:	n/a	n/a
37	MAX	chr19:40790489-40791816	Hela-S3	cervix:	n/a	chr19:40791049-40791059
38	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
39	POLR2A	chr19:40790467-40791954	H1-neurons	neurons:	n/a	n/a
40	CTCF	chr19:40791380-40791530	Caco-2	colon:	n/a	n/a
41	ZNF143	chr19:40790939-40791945	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:40791293-40791932	GM12892	blood:	n/a	n/a
43	POLR2A	chr19:40790578-40791794	HepG2	liver:	n/a	n/a
44	FOXA1	chr19:40791396-40791817	T-47D	breast:	n/a	n/a
45	POLR2A	chr19:40791274-40791861	H1-hESC	embryonic stem cell:	n/a	n/a
46	BCL3	chr19:40791230-40792049	A549	lung:	n/a	chr19:40791339-40791348
47	TAF1	chr19:40790309-40791915	GM12878	blood:	n/a	n/a
48	MYC	chr19:40791348-40791533	MCF-7	breast:	n/a	n/a
49	TCF7L2	chr19:40791020-40792028	Hela-S3	cervix:	n/a	chr19:40791604-40791618 chr19:40791607-40791617 chr19:40791603-40791619 chr19:40791604-40791618 chr19:40791603-40791619 chr19:40791607-40791616
50	POLR2A	chr19:40790735-40791946	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40791383-40791433	RPTEC	kidney:	n/a
2	chr19:40791383-40791433	Jurkat	blood:	n/a
3	chr19:40791383-40791433	HCT-116	colon:	n/a
4	chr19:40791383-40791433	HIPEpiC	eye:	n/a
5	chr19:40791383-40791433	SK-N-MC	brain:	n/a
6	chr19:40791383-40791433	MCF10A-Er-Src	breast:	n/a
7	chr19:40791383-40791433	HPAEpiC	pulmonary alveolar:	n/a
8	chr19:40791383-40791433	AG09309	skin:	n/a
9	chr19:40791383-40791433	MCF-7	breast:	n/a
10	chr19:40791383-40791433	GM12891	blood:	n/a
11	chr19:40791383-40791433	HEK293	kidney:	embryo
12	chr19:40791383-40791433	GM19239	blood:	n/a
13	chr19:40791383-40791433	HRE	kidney:	n/a
14	chr19:40791383-40791433	NB4	blood:	n/a
15	chr19:40791383-40791433	HRPEpiC	eye:	n/a
16	chr19:40791383-40791433	PANC-1	pancreas:	n/a
17	chr19:40791383-40791433	IMR90	lung:	fetal
18	chr19:40791383-40791433	PrEC	prostate:	n/a
19	chr19:40791383-40791433	LNCaP	prostate:	n/a
20	chr19:40791383-40791433	ECC-1	luminal epithelium:	n/a
21	chr19:40791383-40791433	HRCEpiC	kidney:	n/a
22	chr19:40791383-40791433	NHBE	bronchial:	n/a
23	chr19:40791383-40791433	NH-A	brain:	n/a
24	chr19:40791383-40791433	SK-N-SH_RA	brain:	n/a
25	chr19:40791383-40791433	SKMC	muscle:	n/a
26	chr19:40791383-40791433	HepG2	liver:	n/a
27	chr19:40791383-40791433	Hela-S3	cervix:	n/a
28	chr19:40791383-40791433	BE2_C	brain:	n/a
29	chr19:40791383-40791433	HCM	heart:	n/a
30	chr19:40791383-40791433	AG09319	gingival:	n/a
31	chr19:40791383-40791433	A549	lung:	n/a
32	chr19:40791383-40791433	ProgFib	skin:	n/a
33	chr19:40791383-40791433	H1-hESC	embryonic stem cell:	embryo
34	chr19:40791383-40791433	GM12878	blood:	n/a
35	chr19:40791383-40791433	HCPEpiC	choroid plexus:	n/a
36	chr19:40791383-40791433	GM12892	blood:	n/a
37	chr19:40791383-40791433	T-47D	breast:	n/a
38	chr19:40791383-40791433	AoSMC	blood vessel:	n/a
39	chr19:40791383-40791433	CMK	blood:	n/a
40	chr19:40791383-40791433	HL-60	blood:	n/a
41	chr19:40791383-40791433	NHDF-neo	bronchial:	n/a
42	chr19:40791383-40791433	BJ	skin:	n/a
43	chr19:40791383-40791433	K562	blood:	n/a
44	chr19:40791383-40791433	AG04450	lung:	fetal
45	chr19:40791383-40791433	AG10803	skin:	n/a
46	chr19:40791383-40791433	Hepatocyte	liver:	n/a
47	chr19:40791383-40791433	SK-N-SH	brain:	n/a
48	chr19:40791383-40791433	Caco-2	colon:	n/a
49	chr19:40791383-40791433	HEEpiC	esophagus:	n/a
50	chr19:40791383-40791433	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
2	chr19:40791054..40792631-chr19:40929438..40932083,2	K562	blood:
3	chr19:40789879..40793059-chr19:40870323..40872928,3	K562	blood:
4	chr19:40746630..40748490-chr19:40790537..40793116,2	MCF-7	breast:
5	chr19:40790406..40791402-chr22:50968889..50969883,2	Hela-S3	cervix:
6	chr19:40790880..40792731-chr19:40929438..40932853,4	K562	blood:
7	chr19:40790365..40793125-chr19:40949596..40951580,2	K562	blood:
8	chr19:40789948..40791553-chr19:41119261..41121070,2	K562	blood:
9	chr19:40791053..40791604-chr6:74230235..74230760,2	Hela-S3	cervix:
10	chr19:40791169..40791672-chr5:141303112..141303640,2	Hela-S3	cervix:

Variant related genes	Relation type
AKT2	TF binding region
MIR641	TF binding region
AKT2	CpG island
MIR641	CpG island
ENSG00000156508	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000081791	Chromatin interaction
ENSG00000177989	Chromatin interaction
ENSG00000197019	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:125 , 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	chr19:40789800-40791600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:40789800-40791600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:40789800-40791800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:40790000-40791600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:40790000-40791600	Active TSS	Fetal Kidney	kidney
10	chr19:40790000-40791800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:40790000-40791800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:40790000-40792000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:40790000-40792000	Active TSS	Ovary	ovary
14	chr19:40790000-40792200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr19:40790000-40792400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:40790200-40791600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:40790200-40791600	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr19:40790200-40791600	Active TSS	Lung	lung
19	chr19:40790200-40791600	Active TSS	A549	lung
20	chr19:40790200-40791600	Active TSS	K562	blood
21	chr19:40790200-40791600	Active TSS	NHLF	lung
22	chr19:40790200-40791800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr19:40790200-40791800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr19:40790200-40791800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:40790200-40791800	Active TSS	Esophagus	oesophagus
26	chr19:40790200-40791800	Active TSS	GM12878-XiMat	blood
27	chr19:40790200-40792000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr19:40790200-40792000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:40790200-40792000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:40790200-40792000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:40790200-40792000	Active TSS	Aorta	Aorta
32	chr19:40790200-40792000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:40790200-40792000	Active TSS	Left Ventricle	heart
34	chr19:40790200-40792000	Active TSS	Psoas Muscle	Psoas
35	chr19:40790200-40792000	Active TSS	Right Ventricle	heart
36	chr19:40790200-40792200	Active TSS	Thymus	Thymus
37	chr19:40790400-40791600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr19:40790400-40791600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:40790400-40791600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:40790400-40791600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr19:40790400-40791600	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr19:40790400-40791600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr19:40790400-40791600	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr19:40790400-40791600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:40790400-40791600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr19:40790400-40791600	Active TSS	Muscle Satellite Cultured Cells	--
47	chr19:40790400-40791600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:40790400-40791600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:40790400-40791600	Active TSS	Brain Angular Gyrus	brain
50	chr19:40790400-40791600	Active TSS	Brain Cingulate Gyrus	brain

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