Variant report

Variant	rs62120382
Chromosome Location	chr19:18306325-18306326
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18303093..18307365-chr19:18386584..18393500,10	K562	blood:
2	chr19:18262556..18266763-chr19:18301801..18307197,7	K562	blood:
3	chr19:18302787..18307396-chr19:18383842..18390051,8	K562	blood:
4	chr19:18301873..18308921-chr19:18309874..18315133,13	MCF-7	breast:
5	chr19:18302289..18309850-chr19:18311214..18320810,23	K562	blood:
6	chr19:18283035..18288338-chr19:18301660..18307351,8	K562	blood:
7	chr19:18302057..18307216-chr19:18311605..18315914,14	MCF-7	breast:
8	chr19:18304140..18306823-chr19:18518548..18520720,2	K562	blood:
9	chr19:18282952..18288338-chr19:18301660..18306832,7	K562	blood:
10	chr19:18261707..18265058-chr19:18302365..18306548,5	K562	blood:
11	chr19:18110949..18114806-chr19:18305445..18308231,3	MCF-7	breast:
12	chr19:18268586..18275019-chr19:18302013..18308723,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269145	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000216490	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000105643	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000105649	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1046565	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11881258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12460619	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12461021	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12462801	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17683509	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17683539	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2049050	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2229228	0.90[EUR][1000 genomes]
rs3803919	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4458132	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808768	0.85[EUR][1000 genomes]
rs55650549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62120367	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62120368	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62120383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62120385	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62120388	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62120393	0.89[EUR][1000 genomes]
rs6512247	0.84[ASN][1000 genomes]
rs7245576	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7246274	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7249773	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7259695	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8100626	0.90[EUR][1000 genomes]
rs8104010	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109807	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	37 gene(s)	inside rSNPs	diseases
8	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer 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	136 gene(s)	inside rSNPs	diseases
11	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
13	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	nsv911254	chr19:18248146-18310678	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv911256	chr19:18255359-18338101	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv911261	chr19:18288947-18311199	Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
18	nsv911262	chr19:18288947-18312453	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
19	nsv828470	chr19:18289598-18311602	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
20	nsv828471	chr19:18293567-18311602	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
21	nsv819691	chr19:18294153-18312275	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18304600-18306800	Weak transcription	Aorta	Aorta
2	chr19:18305200-18308200	Weak transcription	Brain Substantia Nigra	brain
3	chr19:18305200-18311000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:18305200-18314000	Weak transcription	HSMMtube	muscle
5	chr19:18305400-18306400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:18305400-18306600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:18305400-18306600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:18305400-18306600	Weak transcription	Primary T cells from cord blood	blood
9	chr19:18305400-18306600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:18305400-18306800	Weak transcription	Brain Angular Gyrus	brain
11	chr19:18305400-18312800	Weak transcription	Fetal Brain Male	brain
12	chr19:18305400-18313800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:18305400-18313800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:18305400-18314000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:18305400-18314200	Weak transcription	Small Intestine	intestine
16	chr19:18305600-18306400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:18305600-18306400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:18305600-18306600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:18305600-18306600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:18305600-18306600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:18305600-18306600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:18305600-18306600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:18305600-18306600	Weak transcription	Adipose Nuclei	Adipose
24	chr19:18305600-18306600	Weak transcription	Liver	Liver
25	chr19:18305600-18306600	Weak transcription	Brain Anterior Caudate	brain
26	chr19:18305600-18306600	Weak transcription	Esophagus	oesophagus
27	chr19:18305600-18306600	Weak transcription	Fetal Intestine Large	intestine
28	chr19:18305600-18306600	Weak transcription	Left Ventricle	heart
29	chr19:18305600-18306600	Weak transcription	Lung	lung
30	chr19:18305600-18306800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:18305600-18306800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:18305600-18306800	Weak transcription	Fetal Brain Female	brain
33	chr19:18305600-18306800	Weak transcription	Fetal Heart	heart
34	chr19:18305600-18306800	Weak transcription	Fetal Muscle Leg	muscle
35	chr19:18305600-18306800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr19:18305600-18307000	Weak transcription	Fetal Lung	lung
37	chr19:18305600-18307200	Weak transcription	Brain Germinal Matrix	brain
38	chr19:18305600-18307200	Genic enhancers	Right Ventricle	heart
39	chr19:18305600-18308200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:18305600-18308400	Weak transcription	HepG2	liver
41	chr19:18305600-18311600	Strong transcription	Fetal Intestine Small	intestine
42	chr19:18305600-18313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:18305600-18313400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr19:18305600-18313800	Weak transcription	Psoas Muscle	Psoas
45	chr19:18305600-18313800	Weak transcription	A549	lung
46	chr19:18305600-18313800	Weak transcription	NH-A	brain
47	chr19:18305600-18314000	Weak transcription	HSMM	muscle
48	chr19:18305800-18306600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:18305800-18307200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:18305800-18308600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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