Variant report

Variant	rs548463987
Chromosome Location	chr19:39980595-39980596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39980268-39981248	K562	blood:	n/a	n/a
2	CTCF	chr19:39980454-39980758	A549	lung:	n/a	n/a
3	POLR2A	chr19:39980591-39980600	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:39980485-39981146	PFSK-1	brain:	n/a	n/a
5	CTCF	chr19:39980520-39980673	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:39947157-39987373	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr19:39980500-39980691	K562	blood:	n/a	n/a
8	CTCF	chr19:39980557-39980602	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr19:39980500-39980650	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr19:39980568-39980625	A549	lung:	n/a	n/a
11	POLR2A	chr19:39980473-39980724	K562	blood:	n/a	n/a
12	CTCF	chr19:39980522-39980640	MCF-7	breast:	n/a	n/a
13	POLR2A	chr19:39980489-39980989	GM12892	blood:	n/a	n/a
14	CTCF	chr19:39980487-39980638	A549	lung:	n/a	n/a
15	CTCF	chr19:39980520-39980670	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr19:39980540-39980690	MCF-7	breast:	n/a	n/a
17	POLR2A	chr19:39980507-39980633	HepG2	liver:	n/a	n/a
18	CTCF	chr19:39980515-39980649	MCF-7	breast:	n/a	n/a
19	POLR2A	chr19:39980425-39980811	K562	blood:	n/a	n/a
20	POLR2A	chr19:39978450-39981052	K562	blood:	n/a	n/a
21	CTCF	chr19:39980562-39980600	MCF-7	breast:	n/a	n/a
22	CTCF	chr19:39980508-39980664	MCF-7	breast:	n/a	n/a
23	CTCF	chr19:39980560-39980710	HEK293	kidney:	n/a	n/a
24	POLR2A	chr19:39973155-39985792	PANC-1	pancreas:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39925796..39928041-chr19:39979351..39981372,2	K562	blood:
2	chr19:39978061..39981122-chr19:39987269..39990771,3	MCF-7	breast:
3	chr19:39935452..39937788-chr19:39978921..39980804,2	K562	blood:

No data

Variant related genes	Relation type
TIMM50	TF binding region
ENSG00000196235	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000090932	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS 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 lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv911691	chr19:39979966-40029386	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39972200-39986400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39972800-39982200	Weak transcription	Fetal Kidney	kidney
3	chr19:39972800-39983200	Strong transcription	Fetal Brain Female	brain
4	chr19:39972800-39983600	Strong transcription	Fetal Stomach	stomach
5	chr19:39972800-39984200	Weak transcription	Stomach Mucosa	stomach
6	chr19:39972800-39988600	Weak transcription	Right Atrium	heart
7	chr19:39973000-39981600	Strong transcription	NHEK	skin
8	chr19:39973000-39982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:39973000-39983000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:39973000-39983000	Strong transcription	Fetal Intestine Small	intestine
11	chr19:39973000-39983800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:39973200-39983800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:39973200-39983800	Strong transcription	Fetal Muscle Leg	muscle
14	chr19:39973400-39981400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:39973400-39981400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr19:39973400-39981400	Strong transcription	Fetal Intestine Large	intestine
17	chr19:39973400-39982400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr19:39973400-39982800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:39973400-39983000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:39973400-39983000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:39973400-39983000	Strong transcription	Thymus	Thymus
22	chr19:39973400-39983200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:39973400-39983200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:39973400-39983200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:39973400-39983200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:39973400-39983200	Strong transcription	Primary T cells from cord blood	blood
27	chr19:39973400-39983200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:39973400-39983200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:39973400-39983400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:39973400-39983800	Strong transcription	Brain Germinal Matrix	brain
31	chr19:39973600-39980800	Strong transcription	K562	blood
32	chr19:39973600-39981200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:39973600-39981400	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr19:39973600-39981400	Strong transcription	Fetal Lung	lung
35	chr19:39973600-39981400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr19:39973600-39982000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:39973600-39982800	Strong transcription	Adipose Nuclei	Adipose
38	chr19:39973600-39983000	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr19:39973600-39983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:39973600-39983200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:39973600-39983200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:39973600-39983200	Strong transcription	Liver	Liver
43	chr19:39973600-39983200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr19:39973600-39988400	Weak transcription	Fetal Brain Male	brain
45	chr19:39973800-39981400	Strong transcription	Brain Angular Gyrus	brain
46	chr19:39973800-39983200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr19:39973800-39983800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:39974000-39983000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:39974000-39983200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:39974000-39983400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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