Variant report

Variant	rs188591234
Chromosome Location	chr19:52097021-52097022
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	chr19:52097011-52098187	A549	lung:	n/a	n/a
2	POLR2A	chr19:52096863-52097086	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr19:52096649-52098159	GM12878	blood:	n/a	n/a
4	NRF1	chr19:52096917-52098423	SK-N-SH	brain:	n/a	chr19:52097639-52097648 chr19:52097639-52097653 chr19:52097639-52097650 chr19:52097636-52097650 chr19:52097644-52097655
5	POLR2A	chr19:52095177-52098004	U87	brain:	n/a	n/a
6	POLR2A	chr19:52095947-52098295	K562	blood:	n/a	n/a
7	ZNF263	chr19:52096973-52098574	HEK293-T-REx	kidney:	n/a	n/a
8	MYC	chr19:52096901-52097061	K562	blood:	n/a	n/a
9	POLR2A	chr19:52095284-52097348	U87	brain:	n/a	n/a
10	GATA2	chr19:52096634-52097472	HUVEC	blood vessel:	n/a	chr19:52096856-52096877 chr19:52096863-52096872 chr19:52097058-52097074 chr19:52096859-52096875 chr19:52096862-52096872 chr19:52097056-52097077 chr19:52096863-52096870 chr19:52096833-52096840 chr19:52097060-52097074
11	BHLHE40	chr19:52096954-52097910	K562	blood:	n/a	n/a
12	MTA3	chr19:52096806-52098235	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:52095276-52097905	K562	blood:	n/a	n/a
14	POLR2A	chr19:52095284-52097962	U87	brain:	n/a	n/a
15	POLR2A	chr19:52097000-52097906	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr19:52097015-52098067	K562	blood:	n/a	n/a
17	POLR2A	chr19:52096111-52097902	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:52097005-52097838	HUVEC	blood vessel:	n/a	n/a
19	MXI1	chr19:52096692-52098484	SK-N-SH	brain:	n/a	n/a
20	GATA2	chr19:52096689-52097968	SH-SY5Y	brain:	n/a	chr19:52096856-52096877 chr19:52096863-52096872 chr19:52097058-52097074 chr19:52096859-52096875 chr19:52096862-52096872 chr19:52097056-52097077 chr19:52096863-52096870 chr19:52096833-52096840 chr19:52097060-52097074
21	POLR2A	chr19:52096541-52098016	GM12891	blood:	n/a	n/a
22	SIN3A	chr19:52097000-52098200	H1-hESC	embryonic stem cell:	n/a	chr19:52097895-52097908 chr19:52098066-52098074
23	POLR2A	chr19:52097000-52098269	H1-neurons	neurons:	n/a	n/a
24	REST	chr19:52096678-52098530	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr19:52095171-52098010	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:51914893..51917429-chr19:52094517..52097128,3	K562	blood:
2	chr19:52095454..52097791-chr19:52104410..52105932,2	K562	blood:
3	chr19:51869850..51871538-chr19:52096656..52099033,2	K562	blood:
4	chr19:52096005..52097791-chr19:52103717..52105932,2	K562	blood:
5	chr19:51897297..51899400-chr19:52095029..52099296,3	K562	blood:
6	chr19:52073066..52077206-chr19:52096074..52099799,4	K562	blood:

Variant related genes	Relation type
ENSG00000269388	TF binding region
ENSG00000269388	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000268889	Chromatin interaction
ENSG00000105497	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
10	nsv9740	chr19:52096231-52107021	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52096200-52097200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:52096400-52097200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:52096400-52097200	Flanking Active TSS	Brain Angular Gyrus	brain
4	chr19:52096400-52097200	Flanking Active TSS	Brain Anterior Caudate	brain
5	chr19:52096400-52097200	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr19:52096400-52097200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr19:52096400-52097200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:52096400-52097200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr19:52096400-52097200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr19:52096400-52097200	Flanking Active TSS	GM12878-XiMat	blood
11	chr19:52096400-52097400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr19:52096400-52097400	Flanking Active TSS	Dnd41	blood
13	chr19:52096400-52097600	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr19:52096400-52097600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr19:52096600-52097200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:52096600-52097200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:52096600-52097200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr19:52096600-52097200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr19:52096600-52097200	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr19:52096600-52097200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr19:52096600-52097200	Flanking Active TSS	Fetal Brain Female	brain
22	chr19:52096600-52097200	Flanking Active TSS	K562	blood
23	chr19:52096600-52097200	Flanking Active TSS	NHEK	skin
24	chr19:52096600-52097400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:52096600-52097400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:52096600-52097400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:52096600-52097400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr19:52096600-52097400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:52096600-52097400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:52096600-52097400	Flanking Active TSS	Colonic Mucosa	Colon
31	chr19:52096600-52097400	Flanking Active TSS	Fetal Heart	heart
32	chr19:52096600-52097400	Flanking Active TSS	Pancreas	Pancrea
33	chr19:52096600-52097600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr19:52096600-52098000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:52096600-52098200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:52096600-52098200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr19:52096600-52098200	Active TSS	Fetal Kidney	kidney
38	chr19:52096600-52098400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:52096600-52098400	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr19:52096600-52098400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr19:52096600-52098400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr19:52096600-52098400	Active TSS	NHDF-Ad	bronchial
43	chr19:52096600-52098600	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr19:52096600-52098600	Active TSS	A549	lung
45	chr19:52096600-52098800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:52096800-52097200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:52096800-52097200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:52096800-52097200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:52096800-52097200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:52096800-52097200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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