Variant report

Variant	rs9864631
Chromosome Location	chr3:24264526-24264527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:24258383..24262308-chr3:24263138..24268304,6	K562	blood:
2	chr3:24261056..24262787-chr3:24262896..24264635,2	MCF-7	breast:
3	chr3:24259435..24261786-chr3:24263751..24265876,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4858109	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62253717	0.94[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9864631	PPM1E	trans	lymphoblastoid	seeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

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	chr3:24260000-24264800	Enhancers	NHEK	skin
7	chr3:24260200-24264800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:24260200-24265000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:24260400-24265000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:24260600-24264600	Enhancers	HSMMtube	muscle
11	chr3:24260600-24264800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:24260600-24264800	Enhancers	Stomach Smooth Muscle	stomach
13	chr3:24260800-24264600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:24260800-24264800	Enhancers	HSMM	muscle
15	chr3:24261000-24264800	Enhancers	HMEC	breast
16	chr3:24261200-24264600	Enhancers	Colon Smooth Muscle	Colon
17	chr3:24261200-24264800	Enhancers	NHDF-Ad	bronchial
18	chr3:24261400-24264800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:24262000-24264800	Strong transcription	Fetal Intestine Large	intestine
20	chr3:24262000-24268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:24262200-24264800	Enhancers	NHLF	lung
22	chr3:24262200-24283200	Weak transcription	Fetal Stomach	stomach
23	chr3:24262400-24266200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:24262600-24266000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:24262600-24266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:24262600-24266200	Weak transcription	Adipose Nuclei	Adipose
27	chr3:24262600-24268600	Weak transcription	Lung	lung
28	chr3:24262600-24283200	Weak transcription	Left Ventricle	heart
29	chr3:24262800-24264800	Strong transcription	Liver	Liver
30	chr3:24262800-24264800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr3:24262800-24265800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:24262800-24265800	Weak transcription	Fetal Lung	lung
33	chr3:24263000-24264600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:24263000-24265800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:24263000-24265800	Weak transcription	HUVEC	blood vessel
36	chr3:24263000-24266200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:24263000-24266200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:24263000-24266400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:24263000-24266600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:24263000-24266600	Weak transcription	Ovary	ovary
41	chr3:24263000-24283000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:24263200-24265800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:24263200-24266000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:24263200-24266800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:24263200-24273800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:24263600-24264600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:24263800-24264600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:24263800-24264600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:24263800-24264800	Enhancers	Aorta	Aorta
50	chr3:24263800-24264800	Enhancers	Skeletal Muscle Female	skeletal muscle

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