Variant report

Variant	rs61248595
Chromosome Location	chr19:18748435-18748436
allele	C/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18746749..18750617-chr19:18752436..18756057,4	K562	blood:
2	chr19:18738729..18743227-chr19:18745299..18749316,6	K562	blood:
3	chr19:18553947..18555891-chr19:18746913..18749059,2	K562	blood:
4	chr19:18703681..18707981-chr19:18746387..18750076,5	K562	blood:
5	chr19:18716807..18719687-chr19:18745756..18748857,3	K562	blood:
6	chr19:18747079..18749227-chr19:18751650..18755741,5	MCF-7	breast:
7	chr19:18681104..18684544-chr19:18745683..18749906,4	K562	blood:
8	chr19:18698512..18700358-chr19:18745222..18750244,4	K562	blood:
9	chr19:18698708..18701515-chr19:18746316..18749182,4	MCF-7	breast:
10	chr19:18630375..18633112-chr19:18747617..18750132,3	K562	blood:
11	chr19:18717575..18719687-chr19:18746806..18748857,2	K562	blood:
12	chr19:18744967..18748846-chr19:18753096..18757449,4	MCF-7	breast:
13	chr19:18700524..18703188-chr19:18747828..18749371,2	K562	blood:
14	chr19:18744815..18748522-chr19:18792822..18794594,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105656	Chromatin interaction
ENSG00000167487	Chromatin interaction
ENSG00000105662	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000263490	Chromatin interaction
ENSG00000105696	Chromatin interaction
ENSG00000256989	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000006016	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10424149	0.81[ASN][1000 genomes]
rs11665980	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667450	0.97[ASN][1000 genomes]
rs11668413	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11670437	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11672177	0.90[ASN][1000 genomes]
rs12972147	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35322184	0.90[ASN][1000 genomes]
rs3752217	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3752218	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764628	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66840797	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66969630	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074367	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72997346	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997355	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs752981	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription 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 miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	esv3332947	chr19:18745902-18749700	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv1849639	chr19:18747006-18780799	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18746200-18749000	Enhancers	Fetal Heart	heart
2	chr19:18746600-18748600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:18746600-18748800	Active TSS	A549	lung
4	chr19:18746800-18748600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:18746800-18748600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:18746800-18748600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr19:18746800-18748600	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr19:18746800-18748600	Active TSS	Hela-S3	cervix
9	chr19:18746800-18749000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr19:18747000-18748600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:18747000-18748600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr19:18747000-18748600	Active TSS	Fetal Kidney	kidney
13	chr19:18747000-18748600	Active TSS	Ovary	ovary
14	chr19:18747200-18748600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr19:18747200-18748600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr19:18747200-18748600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:18747200-18748600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:18747200-18748600	Active TSS	Primary T cells from cord blood	blood
19	chr19:18747200-18748600	Active TSS	Brain Angular Gyrus	brain
20	chr19:18747200-18748600	Active TSS	HSMMtube	muscle
21	chr19:18747200-18748800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr19:18747200-18748800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:18747200-18748800	Active TSS	Brain Anterior Caudate	brain
24	chr19:18747200-18748800	Active TSS	Brain Cingulate Gyrus	brain
25	chr19:18747200-18748800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr19:18747200-18748800	Active TSS	Fetal Lung	lung
27	chr19:18747200-18748800	Active TSS	Psoas Muscle	Psoas
28	chr19:18747200-18749000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:18747200-18749200	Active TSS	Rectal Smooth Muscle	rectum
30	chr19:18747200-18749200	Active TSS	HSMM	muscle
31	chr19:18747400-18748600	Active TSS	Right Atrium	heart
32	chr19:18747400-18748800	Active TSS	Left Ventricle	heart
33	chr19:18747400-18748800	Active TSS	NHLF	lung
34	chr19:18747600-18748600	Active TSS	Lung	lung
35	chr19:18747800-18749000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr19:18747800-18749200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:18747800-18749400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:18748000-18748600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr19:18748000-18748600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr19:18748000-18748600	Flanking Active TSS	Colonic Mucosa	Colon
41	chr19:18748000-18748600	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr19:18748000-18748800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr19:18748000-18748800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:18748000-18748800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr19:18748000-18748800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:18748000-18748800	Flanking Active TSS	Liver	Liver
47	chr19:18748000-18748800	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr19:18748000-18748800	Flanking Active TSS	Thymus	Thymus
49	chr19:18748000-18748800	Flanking Active TSS	HMEC	breast
50	chr19:18748000-18748800	Flanking Active TSS	NHEK	skin

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