Variant report

Variant	rs77041130
Chromosome Location	chr19:52874183-52874184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52771473..52773658-chr19:52872286..52874915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196214	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	esv3401193	chr19:52818960-52909749	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv912300	chr19:52832830-52928039	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv912301	chr19:52835210-52914233	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv912302	chr19:52859828-52928039	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv2536	chr19:52869457-52902064	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv912303	chr19:52874140-52928039	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52865200-52875400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:52866600-52875400	ZNF genes & repeats	Liver	Liver
3	chr19:52871200-52876400	Weak transcription	Dnd41	blood
4	chr19:52872600-52874200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:52872600-52874400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:52872600-52874400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:52872600-52874400	Active TSS	Fetal Kidney	kidney
8	chr19:52872600-52874800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:52872800-52874200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:52872800-52874200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:52872800-52874200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
12	chr19:52872800-52874200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:52872800-52874200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:52872800-52874200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:52872800-52874200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:52872800-52874200	Active TSS	Brain Cingulate Gyrus	brain
17	chr19:52872800-52874200	ZNF genes & repeats	Esophagus	oesophagus
18	chr19:52872800-52874200	Active TSS	Ovary	ovary
19	chr19:52872800-52874200	Active TSS	Psoas Muscle	Psoas
20	chr19:52872800-52874200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr19:52872800-52874200	Active TSS	HMEC	breast
22	chr19:52872800-52874200	Active TSS	HSMM	muscle
23	chr19:52872800-52874400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:52872800-52874400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr19:52872800-52874400	Active TSS	Muscle Satellite Cultured Cells	--
26	chr19:52872800-52874400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:52872800-52874400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr19:52872800-52874400	Active TSS	NH-A	brain
29	chr19:52872800-52874400	Active TSS	NHDF-Ad	bronchial
30	chr19:52872800-52874600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr19:52872800-52874600	ZNF genes & repeats	GM12878-XiMat	blood
32	chr19:52872800-52875000	ZNF genes & repeats	Fetal Thymus	thymus
33	chr19:52872800-52875200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:52872800-52875200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
35	chr19:52872800-52875400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:52873200-52874200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:52873200-52874200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr19:52873200-52875200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:52873400-52874200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:52873400-52874200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr19:52873400-52874200	Flanking Active TSS	HUVEC	blood vessel
42	chr19:52873400-52874400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr19:52873400-52875400	ZNF genes & repeats	Placenta	Placenta
44	chr19:52873600-52874400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
45	chr19:52873600-52874400	Flanking Active TSS	Fetal Brain Male	brain
46	chr19:52873600-52874600	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr19:52873600-52874800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr19:52873600-52875200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr19:52873600-52888400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr19:52873800-52874200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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