Variant report

Variant	rs73564239
Chromosome Location	chr19:45670334-45670335
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45664293..45670548-chr19:45677917..45684715,10	MCF-7	breast:
2	chr19:45664265..45666960-chr19:45670245..45671965,2	K562	blood:
3	chr19:45663965..45672033-chr19:45672145..45675901,9	K562	blood:
4	chr19:45579089..45581981-chr19:45667540..45670366,2	K562	blood:
5	chr19:45661836..45664476-chr19:45669992..45671964,2	K562	blood:
6	chr19:45665641..45668911-chr19:45670300..45671967,3	K562	blood:
7	chr19:45667869..45670716-chr19:45675537..45677306,2	MCF-7	breast:
8	chr19:45670098..45671750-chr19:45752252..45755179,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000007047	Chromatin interaction
ENSG00000189114	Chromatin interaction
ENSG00000179846	Chromatin interaction
ENSG00000170684	Chromatin interaction
ENSG00000007255	Chromatin interaction
ENSG00000267545	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11881409	0.92[EUR][1000 genomes]
rs6509200	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7248168	0.94[EUR][1000 genomes]
rs7253652	0.95[EUR][1000 genomes]
rs73564247	0.91[EUR][1000 genomes]
rs8104024	0.95[EUR][1000 genomes]
rs8106106	0.94[EUR][1000 genomes]
rs8110379	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1795888	chr19:45650386-45681988	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1798099	chr19:45664218-45681988	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45660200-45674000	Weak transcription	A549	lung
2	chr19:45665400-45680400	Weak transcription	Brain Substantia Nigra	brain
3	chr19:45665400-45680600	Weak transcription	Fetal Lung	lung
4	chr19:45665600-45680400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:45665800-45674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:45665800-45680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:45665800-45680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:45666400-45670400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr19:45666600-45671000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr19:45667000-45670400	Enhancers	Fetal Thymus	thymus
11	chr19:45667000-45670600	Enhancers	Placenta	Placenta
12	chr19:45667400-45681000	Weak transcription	Aorta	Aorta
13	chr19:45667600-45672000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr19:45668000-45671000	Weak transcription	Hela-S3	cervix
15	chr19:45668000-45674600	Weak transcription	HSMMtube	muscle
16	chr19:45668000-45680600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:45668200-45670600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:45668200-45672800	Weak transcription	Ovary	ovary
19	chr19:45668200-45674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:45668200-45676000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:45668400-45672000	Weak transcription	Fetal Intestine Small	intestine
22	chr19:45668400-45673800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr19:45668400-45673800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:45668400-45673800	Weak transcription	Stomach Mucosa	stomach
25	chr19:45668400-45675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:45668400-45676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:45668400-45680400	Weak transcription	Fetal Intestine Large	intestine
28	chr19:45668400-45680600	Weak transcription	Colon Smooth Muscle	Colon
29	chr19:45668400-45680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:45668600-45670600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:45668600-45672000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:45668600-45673400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:45668600-45673400	Weak transcription	Colonic Mucosa	Colon
34	chr19:45668600-45673400	Weak transcription	Pancreas	Pancrea
35	chr19:45668600-45673800	Weak transcription	Primary T cells from cord blood	blood
36	chr19:45668600-45673800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:45668600-45675600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:45668600-45679000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr19:45668800-45671600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:45668800-45672000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:45668800-45672600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr19:45668800-45680400	Weak transcription	Brain Anterior Caudate	brain
43	chr19:45668800-45680400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:45669000-45670600	Genic enhancers	Spleen	Spleen
45	chr19:45669000-45672000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:45669000-45672000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:45669000-45672000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:45669000-45672200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:45669000-45673400	Weak transcription	Right Ventricle	heart
50	chr19:45669000-45674000	Weak transcription	GM12878-XiMat	blood

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