Variant report

Variant	rs9852999
Chromosome Location	chr3:133708414-133708415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133705022..133707206-chr3:133707318..133709896,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11719536	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11720843	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36011147	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4241361	0.81[EUR][1000 genomes]
rs4241362	0.81[EUR][1000 genomes]
rs4331673	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4634113	0.81[EUR][1000 genomes]
rs9828294	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9840711	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9842346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9842594	0.84[EUR][1000 genomes]
rs9857498	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9866790	0.83[AMR][1000 genomes];0.98[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	nsv877509	chr3:133701960-133756102	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133664800-133713000	Weak transcription	Gastric	stomach
2	chr3:133688000-133710800	Weak transcription	Fetal Lung	lung
3	chr3:133696000-133709400	Weak transcription	Esophagus	oesophagus
4	chr3:133699800-133709400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:133699800-133709400	Weak transcription	Right Ventricle	heart
6	chr3:133704600-133708800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:133705400-133712200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:133705800-133710000	Weak transcription	Adipose Nuclei	Adipose
9	chr3:133705800-133710400	Weak transcription	Right Atrium	heart
10	chr3:133706200-133708800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr3:133706200-133710000	Weak transcription	HSMM	muscle
12	chr3:133706400-133708800	Enhancers	Duodenum Mucosa	Duodenum
13	chr3:133706800-133709400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:133706800-133709400	Weak transcription	HUVEC	blood vessel
15	chr3:133707000-133709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:133707000-133715800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:133707200-133708600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:133707800-133708800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:133707800-133709400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:133707800-133709400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:133707800-133709800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:133707800-133710000	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:133707800-133710800	Weak transcription	Left Ventricle	heart
24	chr3:133708000-133709400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:133708000-133710400	Weak transcription	Placenta	Placenta
26	chr3:133708000-133710600	Weak transcription	Spleen	Spleen
27	chr3:133708200-133708600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:133708200-133708600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:133708200-133708600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:133708200-133709600	Weak transcription	Fetal Thymus	thymus
31	chr3:133708200-133710000	Weak transcription	Stomach Mucosa	stomach
32	chr3:133708200-133712200	Enhancers	Lung	lung
33	chr3:133708400-133709200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:133708400-133709400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr3:133708400-133710000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:133708400-133710000	Weak transcription	Small Intestine	intestine
37	chr3:133708400-133710000	Weak transcription	HMEC	breast
38	chr3:133708400-133710200	Weak transcription	Fetal Intestine Large	intestine
39	chr3:133708400-133710200	Weak transcription	Fetal Intestine Small	intestine
40	chr3:133708400-133711200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:133708400-133711400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:133708400-133714000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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