Variant report

Variant	rs62253716
Chromosome Location	chr3:24264824-24264825
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:
2	chr3:24259435..24261786-chr3:24263751..24265876,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

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]
rs62253718	1.00[EUR][1000 genomes]
rs62253719	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]
rs7644151	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:48 , 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	chr3:24260200-24265000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:24260400-24265000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:24262000-24268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:24262200-24283200	Weak transcription	Fetal Stomach	stomach
10	chr3:24262400-24266200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:24262600-24266000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:24262600-24266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:24262600-24266200	Weak transcription	Adipose Nuclei	Adipose
14	chr3:24262600-24268600	Weak transcription	Lung	lung
15	chr3:24262600-24283200	Weak transcription	Left Ventricle	heart
16	chr3:24262800-24265800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:24262800-24265800	Weak transcription	Fetal Lung	lung
18	chr3:24263000-24265800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:24263000-24265800	Weak transcription	HUVEC	blood vessel
20	chr3:24263000-24266200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:24263000-24266200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:24263000-24266400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:24263000-24266600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:24263000-24266600	Weak transcription	Ovary	ovary
25	chr3:24263000-24283000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:24263200-24265800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:24263200-24266000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:24263200-24266800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:24263200-24273800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:24264000-24266200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:24264000-24275400	Weak transcription	Psoas Muscle	Psoas
32	chr3:24264200-24266000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:24264600-24266000	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:24264600-24270600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr3:24264600-24276800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:24264800-24265800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:24264800-24266000	Weak transcription	Aorta	Aorta
38	chr3:24264800-24266400	Weak transcription	HMEC	breast
39	chr3:24264800-24266600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:24264800-24266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:24264800-24266800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:24264800-24267000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:24264800-24267000	Weak transcription	NHLF	lung
44	chr3:24264800-24268000	Weak transcription	Fetal Intestine Large	intestine
45	chr3:24264800-24268000	Weak transcription	Fetal Intestine Small	intestine
46	chr3:24264800-24268600	Weak transcription	Liver	Liver
47	chr3:24264800-24271000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:24264800-24276400	Weak transcription	Placenta Amnion	Placenta Amnion

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