Variant report

Variant	rs295455
Chromosome Location	chr3:47380103-47380104
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47181313..47183259-chr3:47377303..47380190,2	K562	blood:
2	chr3:47204126..47206203-chr3:47379533..47381542,2	K562	blood:
3	chr3:47376959..47380883-chr3:47381283..47383988,3	K562	blood:
4	chr3:47378756..47381001-chr3:47384460..47386861,2	K562	blood:
5	chr3:47374984..47381273-chr3:47386586..47390760,8	K562	blood:
6	chr3:47379294..47382181-chr3:47421319..47423017,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000076201	Chromatin interaction
ENSG00000227398	Chromatin interaction
ENSG00000181555	Chromatin interaction
ENSG00000260236	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1024036	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1038393	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10865947	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1091068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130122	0.81[AFR][1000 genomes]
rs11707272	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12330516	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631697	1.00[EUR][1000 genomes]
rs13077134	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13323092	1.00[EUR][1000 genomes]
rs1531874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1872165	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874264	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1979736	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2170814	1.00[AMR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs28735306	1.00[EUR][1000 genomes]
rs295431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295434	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295443	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295444	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295445	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295448	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295450	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295451	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295457	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4018904	1.00[EUR][1000 genomes]
rs448018	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858812	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858855	1.00[AMR][1000 genomes]
rs4858896	1.00[EUR][1000 genomes]
rs6442062	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6442063	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6442066	1.00[EUR][1000 genomes]
rs6442068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442069	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6772449	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6775797	1.00[EUR][1000 genomes]
rs6778673	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6778687	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6783591	1.00[EUR][1000 genomes]
rs6785538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787210	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6788978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789730	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808117	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs7372780	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7612191	0.87[AMR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621853	0.87[AMR][1000 genomes]
rs7630154	1.00[EUR][1000 genomes]
rs7639121	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7643150	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7643181	0.81[AFR][1000 genomes]
rs7644043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7644382	1.00[EUR][1000 genomes]
rs7649413	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs807930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807933	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs900688	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900689	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900690	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900692	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900694	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs903538	0.87[AFR][1000 genomes]
rs924009	1.00[EUR][1000 genomes]
rs9812407	1.00[EUR][1000 genomes]
rs9819475	1.00[EUR][1000 genomes]
rs9823480	1.00[EUR][1000 genomes]
rs9823599	0.85[AMR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9827293	1.00[EUR][1000 genomes]
rs9828124	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828289	0.87[AFR][1000 genomes]
rs9828473	1.00[EUR][1000 genomes]
rs9852167	1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9883152	1.00[EUR][1000 genomes]
rs9990284	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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47356800-47382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:47358800-47387000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:47359400-47385000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47359400-47387200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr3:47359400-47387800	Strong transcription	Spleen	Spleen
6	chr3:47359600-47386800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr3:47360000-47382600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:47360000-47388200	Strong transcription	Fetal Intestine Large	intestine
9	chr3:47360400-47387000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:47360400-47388000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:47360600-47387000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:47360600-47387200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr3:47360600-47387600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:47360600-47387600	Strong transcription	Fetal Thymus	thymus
15	chr3:47360600-47387800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:47360600-47387800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:47360600-47388200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr3:47360600-47388800	Strong transcription	Primary T cells from cord blood	blood
19	chr3:47360800-47386800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:47360800-47388000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:47361000-47381800	Strong transcription	Dnd41	blood
22	chr3:47361000-47382800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:47361000-47387400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr3:47361000-47387800	Strong transcription	Brain Cingulate Gyrus	brain
25	chr3:47361000-47388000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:47361000-47388200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:47361000-47388200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr3:47361200-47383200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:47361200-47387600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:47361200-47388000	Strong transcription	Adipose Nuclei	Adipose
31	chr3:47361200-47388000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr3:47361400-47388000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:47361400-47389800	Weak transcription	Right Atrium	heart
34	chr3:47361800-47386600	Strong transcription	Lung	lung
35	chr3:47361800-47387400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:47361800-47388200	Strong transcription	Fetal Brain Female	brain
37	chr3:47362200-47388600	Strong transcription	Brain Germinal Matrix	brain
38	chr3:47363800-47387400	Weak transcription	Stomach Mucosa	stomach
39	chr3:47364200-47382200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:47365600-47387600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:47365600-47388000	Strong transcription	Placenta	Placenta
42	chr3:47365600-47388200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:47365600-47388200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:47365600-47388200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:47365800-47382200	Strong transcription	NHEK	skin
46	chr3:47365800-47387600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:47366200-47388800	Strong transcription	Fetal Stomach	stomach
48	chr3:47366400-47382400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:47366800-47387400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:47367600-47387800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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