Variant report

Variant	rs73556356
Chromosome Location	chr19:42938316-42938317
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: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	chr19:42799802..42800757-chr19:42937904..42938451,2	MCF-7	breast:
2	chr19:42937771..42938435-chr19:42948722..42949229,2	K562	blood:
3	chr19:42579722..42581439-chr19:42937006..42939501,2	K562	blood:
4	chr19:42612371..42613589-chr19:42937505..42938430,9	K562	blood:
5	chr19:42923683..42924698-chr19:42937367..42938479,4	MCF-7	breast:
6	chr19:42923925..42924921-chr19:42937449..42938520,3	K562	blood:
7	chr19:42928480..42929446-chr19:42937174..42938449,5	MCF-7	breast:
8	chr19:42636873..42637913-chr19:42937511..42938452,5	K562	blood:
9	chr19:42923927..42924838-chr19:42937872..42938431,4	MCF-7	breast:
10	chr19:42794845..42795462-chr19:42937891..42938420,2	MCF-7	breast:
11	chr19:42828948..42829733-chr19:42937653..42938351,2	MCF-7	breast:
12	chr19:42612483..42613161-chr19:42937779..42938440,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266226	Chromatin interaction
ENSG00000268605	Chromatin interaction
ENSG00000105732	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10405891	1.00[EUR][1000 genomes]
rs10411253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414969	1.00[EUR][1000 genomes]
rs10416062	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417560	1.00[EUR][1000 genomes]
rs10422000	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423047	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423136	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425139	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13345659	1.00[EUR][1000 genomes]
rs16975743	1.00[EUR][1000 genomes]
rs16975750	1.00[EUR][1000 genomes]
rs28448880	1.00[EUR][1000 genomes]
rs28514561	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35623577	1.00[EUR][1000 genomes]
rs7245385	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7248439	1.00[EUR][1000 genomes]
rs7251638	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252470	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254369	0.86[AFR][1000 genomes]
rs7254839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255015	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102976	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8103108	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription 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	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
2	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:42936200-42940600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:42936600-42939800	Enhancers	Left Ventricle	heart
5	chr19:42936600-42943200	Enhancers	HepG2	liver
6	chr19:42937200-42938400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:42937800-42938400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:42937800-42945000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:42938000-42938400	Enhancers	Brain Anterior Caudate	brain
10	chr19:42938000-42938800	Weak transcription	Right Atrium	heart
11	chr19:42938000-42939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:42938000-42939400	Weak transcription	NHDF-Ad	bronchial
13	chr19:42938000-42940000	Weak transcription	A549	lung
14	chr19:42938000-42940200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:42938000-42940200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:42938000-42940200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:42938000-42940200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:42938000-42941600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:42938000-42942600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:42938000-42942800	Weak transcription	Liver	Liver
21	chr19:42938000-42942800	Weak transcription	K562	blood
22	chr19:42938000-42944400	Weak transcription	Brain Substantia Nigra	brain
23	chr19:42938000-42944600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:42938000-42944600	Weak transcription	Fetal Intestine Small	intestine
25	chr19:42938000-42944800	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:42938000-42944800	Weak transcription	Fetal Intestine Large	intestine
27	chr19:42938000-42944800	Weak transcription	Fetal Lung	lung
28	chr19:42938000-42944800	Weak transcription	Pancreas	Pancrea
29	chr19:42938000-42944800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr19:42938000-42945200	Weak transcription	Fetal Stomach	stomach
31	chr19:42938000-42946200	Enhancers	Adipose Nuclei	Adipose
32	chr19:42938000-42946800	Weak transcription	Right Ventricle	heart
33	chr19:42938000-42950200	Weak transcription	Gastric	stomach
34	chr19:42938000-42954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:42938200-42938800	Enhancers	Lung	lung
36	chr19:42938200-42939600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:42938200-42942800	Weak transcription	Stomach Mucosa	stomach
38	chr19:42938200-42944600	Weak transcription	Fetal Muscle Leg	muscle

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