Variant report

Variant	rs8113588
Chromosome Location	chr19:56902933-56902934
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56630391..56632820-chr19:56902199..56906311,3	K562	blood:
2	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:
3	chr19:56630391..56632820-chr19:56902199..56904998,2	K562	blood:
4	chr19:56896992..56902951-chr19:56903012..56907037,12	K562	blood:
5	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:

Variant related genes	Relation type
ENSG00000018869	Chromatin interaction
ENSG00000267454	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000198440	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11669155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11670940	1.00[AMR][1000 genomes]
rs11878374	1.00[AMR][1000 genomes]
rs11878971	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12609033	1.00[CEU][hapmap]
rs1344093	1.00[AMR][1000 genomes]
rs55905716	1.00[AMR][1000 genomes]
rs56163051	1.00[AMR][1000 genomes]
rs56281826	1.00[AMR][1000 genomes]
rs61740431	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS 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	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56881200-56904000	ZNF genes & repeats	Liver	Liver
2	chr19:56889200-56904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:56889400-56904000	Weak transcription	Fetal Heart	heart
4	chr19:56889400-56904000	Weak transcription	K562	blood
5	chr19:56890200-56903600	Weak transcription	Fetal Brain Male	brain
6	chr19:56890600-56904000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:56894200-56903800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:56894800-56903400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:56895200-56903200	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr19:56895200-56903400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:56896000-56904400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:56896600-56904200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:56896800-56903800	Weak transcription	Fetal Kidney	kidney
14	chr19:56897000-56903000	Strong transcription	Fetal Muscle Leg	muscle
15	chr19:56897400-56904200	Weak transcription	NHLF	lung
16	chr19:56898200-56904000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:56898200-56904000	Weak transcription	Osteobl	bone
18	chr19:56898200-56904200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:56898600-56903000	Strong transcription	Brain Cingulate Gyrus	brain
20	chr19:56898800-56903000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr19:56898800-56903400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:56899200-56904000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:56899400-56904200	Weak transcription	NH-A	brain
24	chr19:56900000-56903200	Strong transcription	Brain Anterior Caudate	brain
25	chr19:56900000-56903600	Strong transcription	Psoas Muscle	Psoas
26	chr19:56900000-56906800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:56900200-56903800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:56900200-56904000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:56900400-56903000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:56900400-56903000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:56900800-56903600	Strong transcription	Primary T cells from cord blood	blood
32	chr19:56900800-56904400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:56900800-56904400	Weak transcription	HSMMtube	muscle
34	chr19:56901000-56903400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr19:56901400-56904000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:56901400-56904200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr19:56901600-56903600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:56901600-56904000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:56901600-56904600	Weak transcription	Small Intestine	intestine
40	chr19:56901800-56903400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:56901800-56903400	Weak transcription	Fetal Intestine Small	intestine
42	chr19:56901800-56903600	Weak transcription	Brain Angular Gyrus	brain
43	chr19:56901800-56903600	Weak transcription	Brain Substantia Nigra	brain
44	chr19:56901800-56903800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:56901800-56903800	Weak transcription	Colon Smooth Muscle	Colon
46	chr19:56901800-56903800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:56901800-56904000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr19:56901800-56904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:56901800-56904200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr19:56901800-56904200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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