Variant report

Variant	rs11878390
Chromosome Location	chr19:56903669-56903670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56878056..56881655-chr19:56903333..56906269,5	K562	blood:
2	chr19:56630391..56632820-chr19:56902199..56906311,3	K562	blood:
3	chr19:56896992..56902951-chr19:56903012..56907037,12	K562	blood:
4	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:
5	chr19:56878151..56881655-chr19:56903333..56906269,7	K562	blood:
6	chr19:56825335..56828118-chr19:56903219..56906332,4	K562	blood:
7	chr19:56630391..56632820-chr19:56902199..56904998,2	K562	blood:
8	chr19:56825335..56828118-chr19:56903219..56905060,3	K562	blood:
9	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:
10	chr19:56886550..56889123-chr19:56903257..56905976,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142409	Chromatin interaction
ENSG00000267606	Chromatin interaction
ENSG00000131848	Chromatin interaction
ENSG00000200646	Chromatin interaction
ENSG00000267781	Chromatin interaction
ENSG00000267776	Chromatin interaction
ENSG00000267549	Chromatin interaction
ENSG00000267192	Chromatin interaction
ENSG00000198440	Chromatin interaction
ENSG00000240225	Chromatin interaction

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

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

rs_ID	r²[population]
rs11883038	0.85[EUR][1000 genomes]
rs12972251	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12980022	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1981674	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs34450526	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35400304	0.85[EUR][1000 genomes]
rs35421936	1.00[ASN][1000 genomes]
rs36090893	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73064033	0.85[EUR][1000 genomes]
rs917649	0.84[CEU][hapmap];0.85[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:101 , 50 per page) page: 1 2 3

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	chr19:56890600-56904000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:56894200-56903800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:56896000-56904400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:56896600-56904200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:56896800-56903800	Weak transcription	Fetal Kidney	kidney
10	chr19:56897400-56904200	Weak transcription	NHLF	lung
11	chr19:56898200-56904000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:56898200-56904000	Weak transcription	Osteobl	bone
13	chr19:56898200-56904200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:56899200-56904000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:56899400-56904200	Weak transcription	NH-A	brain
16	chr19:56900000-56906800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:56900200-56903800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:56900200-56904000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr19:56900800-56904400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:56900800-56904400	Weak transcription	HSMMtube	muscle
21	chr19:56901400-56904000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:56901400-56904200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:56901600-56904000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:56901600-56904600	Weak transcription	Small Intestine	intestine
25	chr19:56901800-56903800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:56901800-56903800	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:56901800-56903800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:56901800-56904000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr19:56901800-56904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:56901800-56904200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr19:56901800-56904200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:56901800-56904200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:56901800-56904200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:56901800-56904400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:56901800-56904600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:56902000-56903800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:56902000-56903800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:56902000-56904200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:56902000-56904200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:56902000-56904200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:56902000-56904200	Weak transcription	Aorta	Aorta
42	chr19:56902000-56904400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:56902000-56904400	Weak transcription	Colonic Mucosa	Colon
44	chr19:56902000-56904400	Weak transcription	Esophagus	oesophagus
45	chr19:56902000-56904400	Weak transcription	Placenta	Placenta
46	chr19:56902000-56904400	Weak transcription	Thymus	Thymus
47	chr19:56902000-56904600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:56902000-56904600	Weak transcription	Pancreas	Pancrea
49	chr19:56902200-56903800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:56902200-56904000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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