Variant report

Variant	rs62253719
Chromosome Location	chr3:24266187-24266188
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:24258383..24262308-chr3:24263138..24268304,6	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17014338	1.00[EUR][1000 genomes]
rs62253674	1.00[EUR][1000 genomes]
rs62253675	1.00[EUR][1000 genomes]
rs62253676	1.00[EUR][1000 genomes]
rs62253677	1.00[EUR][1000 genomes]
rs62253678	1.00[EUR][1000 genomes]
rs62253679	1.00[EUR][1000 genomes]
rs62253680	1.00[EUR][1000 genomes]
rs62253681	1.00[EUR][1000 genomes]
rs62253688	1.00[EUR][1000 genomes]
rs62253689	1.00[EUR][1000 genomes]
rs62253690	1.00[EUR][1000 genomes]
rs62253691	1.00[EUR][1000 genomes]
rs62253692	1.00[EUR][1000 genomes]
rs62253693	1.00[EUR][1000 genomes]
rs62253694	1.00[EUR][1000 genomes]
rs62253695	1.00[EUR][1000 genomes]
rs62253696	1.00[EUR][1000 genomes]
rs62253716	1.00[EUR][1000 genomes]
rs62253718	1.00[EUR][1000 genomes]
rs62253723	1.00[EUR][1000 genomes]
rs62255848	1.00[EUR][1000 genomes]
rs62255859	1.00[EUR][1000 genomes]
rs62256760	1.00[EUR][1000 genomes]
rs73138659	1.00[EUR][1000 genomes]
rs73144431	0.92[AFR][1000 genomes]
rs7644151	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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv524922	chr3:24265142-24267039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24239000-24268200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:24251400-24279200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:24252400-24276400	Weak transcription	HepG2	liver
4	chr3:24255000-24268000	Weak transcription	Brain Anterior Caudate	brain
5	chr3:24257400-24274000	Weak transcription	Pancreas	Pancrea
6	chr3:24262000-24268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:24262200-24283200	Weak transcription	Fetal Stomach	stomach
8	chr3:24262400-24266200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:24262600-24266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:24262600-24266200	Weak transcription	Adipose Nuclei	Adipose
11	chr3:24262600-24268600	Weak transcription	Lung	lung
12	chr3:24262600-24283200	Weak transcription	Left Ventricle	heart
13	chr3:24263000-24266200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:24263000-24266200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:24263000-24266400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:24263000-24266600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:24263000-24266600	Weak transcription	Ovary	ovary
18	chr3:24263000-24283000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:24263200-24266800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:24263200-24273800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:24264000-24266200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:24264000-24275400	Weak transcription	Psoas Muscle	Psoas
23	chr3:24264600-24270600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:24264600-24276800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:24264800-24266400	Weak transcription	HMEC	breast
26	chr3:24264800-24266600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:24264800-24266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:24264800-24266800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:24264800-24267000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:24264800-24267000	Weak transcription	NHLF	lung
31	chr3:24264800-24268000	Weak transcription	Fetal Intestine Large	intestine
32	chr3:24264800-24268000	Weak transcription	Fetal Intestine Small	intestine
33	chr3:24264800-24268600	Weak transcription	Liver	Liver
34	chr3:24264800-24271000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:24264800-24276400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:24265000-24266400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:24265800-24267000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr3:24265800-24267200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:24265800-24267400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:24265800-24268200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:24265800-24268400	Enhancers	Rectal Smooth Muscle	rectum
42	chr3:24265800-24268800	Enhancers	Fetal Lung	lung
43	chr3:24266000-24266600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr3:24266000-24266800	Enhancers	Primary B cells from peripheral blood	blood
45	chr3:24266000-24267000	Enhancers	Aorta	Aorta
46	chr3:24266000-24267200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:24266000-24267200	Enhancers	GM12878-XiMat	blood
48	chr3:24266000-24267400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:24266000-24268200	Enhancers	Colon Smooth Muscle	Colon
50	chr3:24266000-24273600	Weak transcription	Gastric	stomach

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