Variant report

Variant	rs62126347
Chromosome Location	chr19:55772893-55772894
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55771442..55773163-chr19:55870760..55872458,2	MCF-7	breast:
2	chr19:55767441..55773483-chr19:55893952..55900251,14	MCF-7	breast:
3	chr19:55764902..55773441-chr19:55891413..55900303,21	K562	blood:
4	chr19:55763551..55774813-chr19:55891413..55900376,23	K562	blood:
5	chr19:55772423..55775018-chr19:55921452..55924002,2	MCF-7	breast:
6	chr19:55770528..55773508-chr19:55917890..55920089,4	MCF-7	breast:
7	chr19:55771815..55774398-chr19:55785542..55787477,2	K562	blood:
8	chr19:55724113..55730012-chr19:55766381..55773608,39	K562	blood:
9	chr19:55720878..55730679-chr19:55764402..55774570,47	K562	blood:
10	chr19:55772413..55774622-chr19:55789974..55791715,2	K562	blood:
11	chr19:55713511..55716413-chr19:55771406..55774193,2	MCF-7	breast:
12	chr19:55771722..55774869-chr19:55779849..55782643,3	MCF-7	breast:
13	chr19:55726024..55729916-chr19:55768850..55773519,13	MCF-7	breast:
14	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:
15	chr19:55770986..55773436-chr19:55865504..55867451,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233493	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000160471	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000267706	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000267649	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10411896	0.95[ASN][1000 genomes]
rs11665832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667472	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669313	0.98[EUR][1000 genomes]
rs11672710	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672774	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35159664	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848610	0.98[EUR][1000 genomes]
rs62126346	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126352	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62126357	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509938	1.00[EUR][1000 genomes]
rs7258327	0.94[EUR][1000 genomes]
rs8105032	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	228 gene(s)	inside rSNPs	diseases
7	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55771200-55776200	Weak transcription	Ovary	ovary
2	chr19:55771200-55776800	Weak transcription	Gastric	stomach
3	chr19:55771200-55777600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:55771400-55773200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:55771400-55773400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:55771400-55773600	Weak transcription	Esophagus	oesophagus
7	chr19:55771400-55776200	Weak transcription	Lung	lung
8	chr19:55771400-55776800	Weak transcription	Colonic Mucosa	Colon
9	chr19:55771400-55777600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:55771400-55777600	Weak transcription	Fetal Kidney	kidney
11	chr19:55771400-55777800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:55771400-55777800	Weak transcription	Brain Angular Gyrus	brain
13	chr19:55771400-55777800	Weak transcription	NHLF	lung
14	chr19:55771400-55780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:55771400-55780600	Weak transcription	Brain Substantia Nigra	brain
16	chr19:55771400-55780800	Weak transcription	Right Ventricle	heart
17	chr19:55771400-55781400	Weak transcription	Liver	Liver
18	chr19:55771400-55783600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:55771400-55784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:55771400-55787800	Weak transcription	Osteobl	bone
21	chr19:55771400-55788400	Weak transcription	Stomach Mucosa	stomach
22	chr19:55771400-55790400	Weak transcription	HSMM	muscle
23	chr19:55771400-55790400	Weak transcription	NHDF-Ad	bronchial
24	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
25	chr19:55771600-55773000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:55771600-55773200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:55771600-55773400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:55771600-55773400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:55771600-55773400	Weak transcription	Fetal Muscle Leg	muscle
30	chr19:55771600-55773400	Weak transcription	Left Ventricle	heart
31	chr19:55771600-55773400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:55771600-55773600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:55771600-55773600	Weak transcription	Psoas Muscle	Psoas
34	chr19:55771600-55776200	Weak transcription	Fetal Brain Female	brain
35	chr19:55771600-55776200	Weak transcription	Fetal Intestine Large	intestine
36	chr19:55771600-55777000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:55771600-55777200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:55771600-55777400	Weak transcription	Spleen	Spleen
39	chr19:55771600-55777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:55771600-55777600	Weak transcription	Fetal Lung	lung
41	chr19:55771600-55777600	Weak transcription	Pancreas	Pancrea
42	chr19:55771600-55777800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr19:55771600-55777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:55771600-55777800	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:55771600-55777800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr19:55771600-55777800	Weak transcription	Fetal Brain Male	brain
47	chr19:55771600-55777800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:55771600-55779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:55771600-55779200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:55771600-55779800	Weak transcription	Rectal Mucosa Donor 29	rectum

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