Variant report

Variant	rs114509867
Chromosome Location	chr19:52075851-52075852
allele	A/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	ZNF143	chr19:52075746-52076101	K562	blood:	n/a	n/a
2	POLR2A	chr19:52075451-52075967	K562	blood:	n/a	n/a
3	SPI1	chr19:52075615-52076071	HL-60	blood:	n/a	n/a
4	TRIM28	chr19:52075731-52076028	K562	blood:	n/a	n/a
5	GATA2	chr19:52075637-52076109	K562	blood:	n/a	chr19:52075825-52075835
6	TEAD4	chr19:52075633-52076087	K562	blood:	n/a	n/a
7	EP300	chr19:52075763-52075960	GM12878	blood:	n/a	chr19:52075824-52075833
8	FOS	chr19:52075387-52077326	HUVEC	blood vessel:	n/a	n/a
9	HMGN3	chr19:52075753-52075967	K562	blood:	n/a	n/a
10	POLR2A	chr19:52075563-52076108	K562	blood:	n/a	n/a
11	SPI1	chr19:52075699-52075936	GM12878	blood:	n/a	n/a
12	GATA2	chr19:52075754-52077117	HUVEC	blood vessel:	n/a	chr19:52075825-52075835 chr19:52076736-52076745 chr19:52076927-52076934 chr19:52076831-52076840
13	POLR2A	chr19:52074025-52077434	U87	brain:	n/a	n/a
14	CTCF	chr19:52075758-52075854	GM12892	blood:	n/a	chr19:52075786-52075799
15	POLR2A	chr19:52075274-52077228	HUVEC	blood vessel:	n/a	n/a
16	CEBPB	chr19:52075787-52076153	K562	blood:	n/a	n/a
17	CTCF	chr19:52075759-52075873	GM12878	blood:	n/a	chr19:52075786-52075799
18	EP300	chr19:52075284-52076053	K562	blood:	n/a	chr19:52075824-52075833
19	CTCF	chr19:52075749-52075862	K562	blood:	n/a	chr19:52075786-52075799
20	POLR2A	chr19:52075502-52075992	K562	blood:	n/a	n/a
21	CEBPB	chr19:52075837-52076906	IMR90	lung:	n/a	n/a
22	SPI1	chr19:52075601-52076042	GM12891	blood:	n/a	n/a
23	CHD2	chr19:52075692-52075971	GM12878	blood:	n/a	n/a
24	REST	chr19:52075692-52076017	K562	blood:	n/a	n/a
25	YY1	chr19:52075444-52075970	K562	blood:	n/a	n/a
26	HEY1	chr19:52075544-52075966	K562	blood:	n/a	n/a
27	POLR2A	chr19:52075219-52076089	K562	blood:	n/a	n/a
28	MAZ	chr19:52075176-52076047	K562	blood:	n/a	n/a
29	ATF1	chr19:52075510-52076018	K562	blood:	n/a	n/a
30	SPI1	chr19:52075673-52075993	GM12891	blood:	n/a	n/a
31	STAT5A	chr19:52075593-52076095	K562	blood:	n/a	chr19:52076048-52076059
32	RCOR1	chr19:52074190-52076188	K562	blood:	n/a	n/a
33	ELF1	chr19:52075595-52075996	K562	blood:	n/a	chr19:52075822-52075833 chr19:52075821-52075834
34	POLR2A	chr19:52074059-52077284	PBDE	blood:	n/a	n/a
35	RAD21	chr19:52075632-52075931	K562	blood:	n/a	n/a
36	BHLHE40	chr19:52075562-52076309	K562	blood:	n/a	n/a
37	SPI1	chr19:52075558-52076183	HL-60	blood:	n/a	n/a
38	POLR2A	chr19:52075394-52076044	K562	blood:	n/a	n/a
39	JUND	chr19:52075299-52076123	K562	blood:	n/a	n/a
40	SPI1	chr19:52075311-52075989	GM12878	blood:	n/a	n/a
41	REST	chr19:52075649-52076132	HL-60	blood:	n/a	n/a
42	ARID3A	chr19:52075575-52076111	K562	blood:	n/a	n/a
43	POLR2A	chr19:52075576-52075980	K562	blood:	n/a	n/a
44	GATA1	chr19:52074810-52077148	PBDE	blood:	n/a	chr19:52075825-52075835 chr19:52074842-52074853 chr19:52076736-52076745 chr19:52076927-52076934 chr19:52076831-52076840
45	CEBPB	chr19:52075643-52076080	K562	blood:	n/a	n/a
46	CUX1	chr19:52075671-52076120	K562	blood:	n/a	n/a
47	TBL1XR1	chr19:52075716-52076008	K562	blood:	n/a	n/a
48	UBTF	chr19:52075458-52076013	K562	blood:	n/a	n/a
49	POLR2A	chr19:52074872-52077276	U87	brain:	n/a	n/a
50	BHLHE40	chr19:52075668-52076097	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51843178..51845619-chr19:52074404..52075904,2	K562	blood:
2	chr19:52075666..52078013-chr19:52102124..52103680,2	K562	blood:
3	chr19:52073774..52076492-chr19:52083212..52084974,2	K562	blood:
4	chr19:52073066..52077206-chr19:52096074..52099799,4	K562	blood:

Variant related genes	Relation type
ZNF175	TF binding region
ENSG00000269388	Chromatin interaction
ENSG00000186806	Chromatin interaction
ENSG00000105497	Chromatin interaction
ENSG00000267905	Chromatin interaction
ENSG00000167765	Chromatin interaction
ENSG00000267808	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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr19:52074000-52076000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:52074800-52076000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:52074800-52076000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:52074800-52076000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr19:52074800-52077400	Flanking Active TSS	HUVEC	blood vessel
6	chr19:52075000-52076000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:52075000-52076000	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr19:52075000-52076000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr19:52075000-52076000	Flanking Active TSS	Right Ventricle	heart
10	chr19:52075000-52076000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr19:52075000-52076000	Flanking Active TSS	HMEC	breast
12	chr19:52075000-52076200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:52075000-52076200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:52075000-52076200	Flanking Active TSS	NHLF	lung
15	chr19:52075000-52076400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr19:52075000-52076800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:52075000-52077000	Flanking Active TSS	Osteobl	bone
18	chr19:52075200-52076000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:52075200-52076000	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr19:52075200-52076000	Flanking Active TSS	HSMM	muscle
21	chr19:52075200-52076200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr19:52075200-52076200	Flanking Active TSS	NH-A	brain
23	chr19:52075200-52076400	Enhancers	Primary B cells from peripheral blood	blood
24	chr19:52075200-52076400	Enhancers	Small Intestine	intestine
25	chr19:52075200-52076400	Flanking Active TSS	NHDF-Ad	bronchial
26	chr19:52075200-52077000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:52075400-52076000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:52075400-52076000	Enhancers	Primary hematopoietic stem cells	blood
29	chr19:52075400-52076000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr19:52075400-52076000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr19:52075400-52076000	Enhancers	Fetal Muscle Leg	muscle
32	chr19:52075400-52076200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr19:52075400-52076200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:52075400-52076200	Enhancers	Brain Substantia Nigra	brain
35	chr19:52075400-52076200	Enhancers	Placenta	Placenta
36	chr19:52075400-52076200	Enhancers	Fetal Stomach	stomach
37	chr19:52075400-52076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:52075400-52076400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:52075400-52076400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr19:52075400-52076400	Enhancers	Spleen	Spleen
41	chr19:52075400-52076600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:52075400-52076600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:52075400-52076800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:52075400-52084600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:52075400-52087400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr19:52075400-52090200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:52075600-52076000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:52075600-52076000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:52075600-52076000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:52075600-52076000	Enhancers	Brain Angular Gyrus	brain

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