Variant report

Variant	rs543473051
Chromosome Location	chr19:39986271-39986272
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	POLR2A	chr19:39947157-39987373	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39986104..39989101-chr19:39992054..39994014,2	K562	blood:
2	chr19:39973981..39976601-chr19:39986100..39988186,2	MCF-7	breast:
3	chr19:39982701..39986911-chr19:39987055..39990908,4	MCF-7	breast:

Variant related genes	Relation type
DLL3	TF binding region
ENSG00000090932	Chromatin interaction
ENSG00000105197	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	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
6	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39972200-39986400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39972800-39988600	Weak transcription	Right Atrium	heart
3	chr19:39973600-39988400	Weak transcription	Fetal Brain Male	brain
4	chr19:39980000-39988600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr19:39980600-39988600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:39980800-39986600	Weak transcription	NHLF	lung
7	chr19:39980800-39988200	Weak transcription	HUVEC	blood vessel
8	chr19:39980800-39988400	Weak transcription	K562	blood
9	chr19:39981000-39986600	Weak transcription	NH-A	brain
10	chr19:39981000-39988200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:39981000-39988400	Weak transcription	Aorta	Aorta
12	chr19:39981000-39988400	Weak transcription	GM12878-XiMat	blood
13	chr19:39981000-39988400	Weak transcription	HSMMtube	muscle
14	chr19:39981000-39988600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:39981000-39988600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:39981000-39988600	Weak transcription	Gastric	stomach
17	chr19:39981000-39988800	Weak transcription	Pancreas	Pancrea
18	chr19:39981200-39988400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr19:39981400-39986600	Weak transcription	Fetal Thymus	thymus
20	chr19:39981400-39988200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:39981400-39988400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:39981400-39988600	Weak transcription	Primary B cells from cord blood	blood
23	chr19:39981400-39988600	Weak transcription	HSMM	muscle
24	chr19:39981600-39986800	Weak transcription	Osteobl	bone
25	chr19:39981600-39988400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:39982800-39986600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:39982800-39986800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:39982800-39986800	Weak transcription	Adipose Nuclei	Adipose
29	chr19:39982800-39987600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:39983000-39986400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:39983000-39986400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr19:39983000-39986600	Weak transcription	Fetal Intestine Small	intestine
33	chr19:39983000-39987600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:39983200-39986400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:39983200-39986600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:39983200-39986600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr19:39983200-39986600	Weak transcription	Primary T cells from cord blood	blood
38	chr19:39983200-39986600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:39983200-39986600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:39983200-39986800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:39983200-39986800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr19:39983200-39988000	Weak transcription	Liver	Liver
43	chr19:39983200-39988400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:39983200-39988400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:39983200-39988400	Weak transcription	Fetal Brain Female	brain
46	chr19:39983200-39988400	Weak transcription	Spleen	Spleen
47	chr19:39983200-39988600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:39983200-39988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:39983400-39987600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:39983400-39988200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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