Variant report

Variant	rs35512593
Chromosome Location	chr19:42787130-42787131
allele	-/A
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	EP300	chr19:42787090-42788014	A549	lung:	n/a	n/a
2	MAZ	chr19:42783745-42790703	IMR90	lung:	n/a	chr19:42790440-42790449 chr19:42784941-42784951 chr19:42786707-42786717 chr19:42786161-42786171 chr19:42788533-42788543 chr19:42786706-42786717
3	MTA3	chr19:42787120-42787769	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:42787032-42788048	U87	brain:	n/a	n/a
5	MAX	chr19:42783361-42789666	A549	lung:	n/a	chr19:42784941-42784951 chr19:42786707-42786717 chr19:42786161-42786171 chr19:42788533-42788543 chr19:42786706-42786717
6	FOXM1	chr19:42787116-42787711	GM12878	blood:	n/a	n/a
7	FOSL2	chr19:42787114-42788094	A549	lung:	n/a	chr19:42788006-42788015 chr19:42787811-42787820
8	MYC	chr19:42787119-42787160	GM12878	blood:	n/a	n/a
9	RUNX3	chr19:42787124-42788053	GM12878	blood:	n/a	n/a
10	ETS1	chr19:42787112-42787960	A549	lung:	n/a	n/a
11	POLR2A	chr19:42787083-42790049	K562	blood:	n/a	n/a
12	POLR2A	chr19:42786850-42788849	K562	blood:	n/a	n/a
13	POU2F2	chr19:42787035-42788108	GM12891	blood:	n/a	chr19:42788022-42788036 chr19:42788025-42788032 chr19:42788024-42788033 chr19:42788021-42788036 chr19:42788020-42788038 chr19:42788023-42788033 chr19:42788018-42788040 chr19:42788023-42788033 chr19:42787455-42787467 chr19:42788022-42788034 chr19:42788025-42788033 chr19:42788019-42788040 chr19:42788024-42788034 chr19:42788024-42788035
14	SIX5	chr19:42787103-42787948	A549	lung:	n/a	n/a
15	POLR2A	chr19:42786831-42788635	K562	blood:	n/a	n/a
16	ETS1	chr19:42787048-42788078	A549	lung:	n/a	n/a
17	JUND	chr19:42786986-42788859	A549	lung:	n/a	chr19:42788006-42788015 chr19:42787034-42787043 chr19:42788747-42788756 chr19:42787035-42787044 chr19:42787811-42787820
18	POLR2A	chr19:42787042-42788631	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr19:42786091-42788704	K562	blood:	n/a	n/a
20	REST	chr19:42787034-42787978	A549	lung:	n/a	chr19:42787866-42787876 chr19:42787204-42787218
21	POLR2A	chr19:42787029-42788560	GM12878	blood:	n/a	n/a
22	ATF3	chr19:42787085-42787951	A549	lung:	n/a	n/a
23	POLR2A	chr19:42785340-42789700	HepG2	liver:	n/a	n/a
24	POLR2A	chr19:42786049-42789419	Raji	blood:	n/a	n/a
25	MYC	chr19:42785937-42788682	K562	blood:	n/a	chr19:42786707-42786717 chr19:42786161-42786171 chr19:42788533-42788543 chr19:42786706-42786717
26	POLR2A	chr19:42787053-42788116	GM12892	blood:	n/a	n/a
27	SP1	chr19:42787047-42788300	A549	lung:	n/a	chr19:42787136-42787157 chr19:42788008-42788020 chr19:42788009-42788018 chr19:42787675-42787685 chr19:42788004-42788013 chr19:42787363-42787373 chr19:42788008-42788020
28	POLR2A	chr19:42786802-42788687	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:42781785-42788117	SK-N-MC	brain:	n/a	n/a
30	PML	chr19:42787041-42788481	GM12878	blood:	n/a	n/a
31	POU2F2	chr19:42787120-42788285	GM12878	blood:	n/a	chr19:42788022-42788036 chr19:42788025-42788032 chr19:42788024-42788033 chr19:42788021-42788036 chr19:42788020-42788038 chr19:42788023-42788033 chr19:42788018-42788040 chr19:42788023-42788033 chr19:42787455-42787467 chr19:42788022-42788034 chr19:42788025-42788033 chr19:42788019-42788040 chr19:42788024-42788034 chr19:42788024-42788035
32	TEAD4	chr19:42787100-42787923	K562	blood:	n/a	n/a
33	POLR2A	chr19:42786990-42788643	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:42787098-42788140	U87	brain:	n/a	n/a
35	EP300	chr19:42787074-42788105	A549	lung:	n/a	n/a
36	TCF12	chr19:42787000-42788263	A549	lung:	n/a	n/a
37	MXI1	chr19:42783201-42791351	SK-N-SH	brain:	n/a	chr19:42785246-42785261 chr19:42783290-42783299 chr19:42786708-42786717 chr19:42783465-42783474 chr19:42784488-42784503
38	POLR2A	chr19:42787082-42788617	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:42787088-42788021	GM12892	blood:	n/a	n/a
40	TCF12	chr19:42787087-42788046	A549	lung:	n/a	n/a
41	POLR2A	chr19:42787098-42788146	U87	brain:	n/a	n/a
42	POLR2A	chr19:42786726-42788592	PFSK-1	brain:	n/a	n/a
43	MTA3	chr19:42786070-42788128	GM12878	blood:	n/a	n/a
44	POLR2A	chr19:42787044-42788114	GM12892	blood:	n/a	n/a
45	POLR2A	chr19:42787116-42788056	GM12891	blood:	n/a	n/a
46	STAT5A	chr19:42787092-42788490	GM12878	blood:	n/a	chr19:42788010-42788022 chr19:42787503-42787515
47	CREB1	chr19:42787112-42788782	GM12878	blood:	n/a	n/a
48	BCL3	chr19:42783261-42788037	A549	lung:	n/a	chr19:42784292-42784305 chr19:42784099-42784112 chr19:42785738-42785746 chr19:42785147-42785160 chr19:42784294-42784303 chr19:42784104-42784113 chr19:42784556-42784569

No.	Distal block	Cell Line	Cell type
1	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
2	chr19:42786310..42789274-chr8:144099903..144101921,2	MCF-7	breast:
3	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:
4	chr19:42598699..42600761-chr19:42786357..42787884,2	K562	blood:
5	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
6	chr19:42597900..42600761-chr19:42786384..42788492,2	K562	blood:
7	chr19:42785454..42788191-chr19:42828272..42829778,2	K562	blood:
8	chr19:42785237..42787439-chr19:42898347..42900741,2	K562	blood:
9	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
10	chr19:42783298..42787362-chr19:42802681..42808039,8	MCF-7	breast:
11	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:

Variant related genes	Relation type
CIC	TF binding region
ENSG00000105732	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000028277	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000213904	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000160932	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats 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
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS 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	62 gene(s)	inside rSNPs	diseases
8	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
9	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
10	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
11	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
12	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
13	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
14	esv1801251	chr19:42768288-42788467	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	esv1803455	chr19:42768288-42788467	Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
16	esv1803706	chr19:42768288-42788467	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
17	esv1801291	chr19:42772432-42788467	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
18	esv1801294	chr19:42772432-42788467	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
19	esv1801914	chr19:42772432-42788467	Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
20	nsv911787	chr19:42773862-42795554	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
21	esv11470	chr19:42786911-42789522	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
22	esv3373500	chr19:42786937-42789485	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	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	chr19:42783600-42788000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:42785000-42787200	Enhancers	Primary B cells from cord blood	blood
3	chr19:42785000-42787400	Enhancers	Liver	Liver
4	chr19:42785000-42787600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:42785200-42787200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:42785200-42787200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr19:42785200-42787200	Weak transcription	Aorta	Aorta
8	chr19:42785200-42787400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:42785200-42787400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr19:42785200-42787400	Enhancers	Lung	lung
11	chr19:42785200-42787400	Enhancers	Pancreas	Pancrea
12	chr19:42785200-42787400	Enhancers	Stomach Mucosa	stomach
13	chr19:42785400-42787600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr19:42785400-42787800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:42785400-42787800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr19:42785400-42787800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:42785400-42787800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:42785400-42787800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr19:42785400-42788000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:42785400-42788000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:42785400-42788000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:42785400-42788000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:42785400-42788000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr19:42785600-42787200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr19:42785600-42787200	Enhancers	Primary B cells from peripheral blood	blood
26	chr19:42785600-42787200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:42785600-42787200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:42785600-42787200	Enhancers	Brain Angular Gyrus	brain
29	chr19:42785600-42787200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:42785600-42787200	Enhancers	Esophagus	oesophagus
31	chr19:42785600-42787200	Enhancers	Spleen	Spleen
32	chr19:42785600-42787400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:42785600-42787400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:42785600-42787400	Enhancers	Primary T cells from cord blood	blood
35	chr19:42785600-42787400	Weak transcription	Ovary	ovary
36	chr19:42785600-42787600	Enhancers	Gastric	stomach
37	chr19:42785600-42787800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr19:42785600-42787800	Flanking Active TSS	HepG2	liver
39	chr19:42785600-42788000	Flanking Active TSS	Fetal Brain Female	brain
40	chr19:42785800-42787200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:42785800-42787200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:42785800-42787200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr19:42785800-42787200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr19:42785800-42787200	Enhancers	Brain Substantia Nigra	brain
45	chr19:42785800-42787200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr19:42785800-42787200	Enhancers	GM12878-XiMat	blood
47	chr19:42785800-42787400	Enhancers	Placenta	Placenta
48	chr19:42785800-42787600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:42786000-42787200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr19:42786000-42787200	Enhancers	Fetal Muscle Trunk	muscle

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