Variant report

Variant	rs2686767
Chromosome Location	chr19:44995037-44995038
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44983712..44985391-chr19:44995000..44997386,2	K562	blood:
2	chr19:44993270..44996512-chr19:44998152..45001010,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12462473	0.92[ASN][1000 genomes]
rs2571110	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2571111	0.86[AMR][1000 genomes]
rs2571112	0.86[AMR][1000 genomes]
rs2571113	0.84[AMR][1000 genomes]
rs2571114	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686768	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686770	0.86[AMR][1000 genomes]
rs2686773	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686774	0.86[AMR][1000 genomes]
rs2686775	0.86[AMR][1000 genomes]
rs2686776	0.86[AMR][1000 genomes]
rs2686777	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription 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 miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912115	chr19:44957508-44995990	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2686767	ZNF180	cis	Muscle Skeletal	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44978800-45003400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr19:44989000-44997000	Weak transcription	Hela-S3	cervix
3	chr19:44989200-44996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44991800-44995200	Weak transcription	HSMMtube	muscle
5	chr19:44991800-44996000	Weak transcription	Fetal Heart	heart
6	chr19:44992000-44995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr19:44992000-44995200	Weak transcription	HUVEC	blood vessel
8	chr19:44992200-44996400	Weak transcription	NH-A	brain
9	chr19:44993600-45002000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:44993600-45002000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:44993600-45003600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:44993600-45003600	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr19:44993600-45003600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr19:44993600-45003600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:44994000-44995600	ZNF genes & repeats	A549	lung
16	chr19:44994000-44998200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:44994000-45000000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:44994000-45000000	ZNF genes & repeats	Fetal Kidney	kidney
19	chr19:44994000-45001800	ZNF genes & repeats	Dnd41	blood
20	chr19:44994000-45002200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
21	chr19:44994000-45002200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
22	chr19:44994000-45002600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr19:44994000-45002600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr19:44994000-45002800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
25	chr19:44994000-45002800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr19:44994000-45002800	ZNF genes & repeats	Brain Anterior Caudate	brain
27	chr19:44994000-45002800	ZNF genes & repeats	HepG2	liver
28	chr19:44994000-45003000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
29	chr19:44994000-45003000	ZNF genes & repeats	Fetal Brain Female	brain
30	chr19:44994000-45003000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr19:44994000-45003200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr19:44994000-45003200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr19:44994000-45003200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:44994000-45003200	ZNF genes & repeats	Liver	Liver
35	chr19:44994000-45003400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:44994000-45003400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:44994000-45003400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
38	chr19:44994000-45003600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr19:44994000-45003600	ZNF genes & repeats	GM12878-XiMat	blood
40	chr19:44994000-45003800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:44994000-45003800	ZNF genes & repeats	Brain Germinal Matrix	brain
42	chr19:44994200-44995400	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
43	chr19:44994200-44997000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:44994200-44997200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:44994200-45000200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
46	chr19:44994200-45000200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
47	chr19:44994200-45000400	ZNF genes & repeats	Left Ventricle	heart
48	chr19:44994200-45000800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:44994200-45001200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr19:44994200-45001200	ZNF genes & repeats	Primary T cells from cord blood	blood

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