Variant report

Variant	rs62112279
Chromosome Location	chr19:38410886-38410887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38402813..38405228-chr19:38408699..38411381,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs62110230	0.80[EUR][1000 genomes]
rs62110232	0.80[EUR][1000 genomes]
rs62112272	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62112273	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112274	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62112275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112288	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62112291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62120128	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62120129	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62120130	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62120131	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7257838	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258680	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105754	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061106	chr19:38400149-38448723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv544001	chr19:38400149-38448723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398600-38422600	Weak transcription	Aorta	Aorta
2	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:38399000-38418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:38399000-38422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:38399200-38411000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:38399200-38411000	Weak transcription	Stomach Mucosa	stomach
7	chr19:38399200-38411400	Weak transcription	NHEK	skin
8	chr19:38399200-38411800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:38399200-38411800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:38399200-38415600	Weak transcription	Hela-S3	cervix
11	chr19:38399200-38416000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:38399200-38422400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:38399200-38422600	Weak transcription	Fetal Lung	lung
14	chr19:38399200-38424600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:38399600-38411400	Weak transcription	Esophagus	oesophagus
16	chr19:38399600-38422000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:38399600-38424000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:38399600-38424200	Weak transcription	Right Atrium	heart
19	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:38399800-38411000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:38399800-38411000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:38399800-38411600	Weak transcription	Lung	lung
23	chr19:38399800-38413800	Weak transcription	Liver	Liver
24	chr19:38399800-38417200	Weak transcription	Ovary	ovary
25	chr19:38399800-38421200	Weak transcription	Gastric	stomach
26	chr19:38399800-38421800	Weak transcription	Left Ventricle	heart
27	chr19:38399800-38422400	Weak transcription	Fetal Brain Female	brain
28	chr19:38399800-38422600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:38400000-38411200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:38400000-38411400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:38400000-38422000	Weak transcription	HSMM	muscle
32	chr19:38400400-38411000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:38400400-38411200	Weak transcription	Brain Germinal Matrix	brain
34	chr19:38400400-38416800	Weak transcription	Pancreas	Pancrea
35	chr19:38400400-38419400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:38400400-38421800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr19:38400600-38411400	Weak transcription	Osteobl	bone
38	chr19:38400600-38422000	Weak transcription	HSMMtube	muscle
39	chr19:38400600-38422400	Weak transcription	HUVEC	blood vessel
40	chr19:38400800-38411400	Weak transcription	NH-A	brain
41	chr19:38400800-38422400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:38401000-38416600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:38401000-38421600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:38401200-38416800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr19:38401200-38421200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:38401800-38411200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:38401800-38411200	Weak transcription	HMEC	breast
48	chr19:38402000-38416800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr19:38402000-38422600	Weak transcription	Fetal Brain Male	brain
50	chr19:38402800-38411000	Strong transcription	Fetal Intestine Small	intestine

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