Variant report

Variant	rs295448
Chromosome Location	chr3:47373339-47373340
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47369756..47372126-chr3:47373023..47375340,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1024036	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs1038393	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs10865947	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1091068	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130134	0.89[AMR][1000 genomes]
rs11707272	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs12330516	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12491029	1.00[YRI][hapmap]
rs12631697	1.00[EUR][1000 genomes]
rs13077134	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13323092	1.00[EUR][1000 genomes]
rs1531874	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1872165	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2170814	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs28735306	1.00[EUR][1000 genomes]
rs295431	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295432	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295434	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295443	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295444	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295445	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295450	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295451	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295453	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295454	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295455	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295456	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295457	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295459	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4018904	1.00[EUR][1000 genomes]
rs448018	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858812	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858823	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858834	0.89[AMR][1000 genomes]
rs4858855	0.87[AMR][1000 genomes]
rs4858896	1.00[EUR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6442066	1.00[EUR][1000 genomes]
rs6442068	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442069	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648226	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6772449	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs6775797	1.00[EUR][1000 genomes]
rs6778673	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6778687	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6783591	1.00[EUR][1000 genomes]
rs6785538	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787210	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6788978	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs7372780	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621853	1.00[AMR][1000 genomes]
rs7630154	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs7639121	0.94[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7644043	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7644382	1.00[EUR][1000 genomes]
rs7649413	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs807930	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807933	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs900688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900689	0.94[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900690	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900692	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900693	0.89[YRI][hapmap]
rs900694	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs903538	1.00[YRI][hapmap]
rs924009	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs9812407	1.00[EUR][1000 genomes]
rs9819475	1.00[EUR][1000 genomes]
rs9823480	1.00[EUR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9827293	1.00[EUR][1000 genomes]
rs9828124	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][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]
rs9862711	1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9878813	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	chr3:47357200-47374800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:47358800-47387000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:47359400-47385000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:47359400-47387200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr3:47359400-47387800	Strong transcription	Spleen	Spleen
7	chr3:47359600-47386800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr3:47360000-47382600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:47360000-47388200	Strong transcription	Fetal Intestine Large	intestine
10	chr3:47360400-47387000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:47360400-47388000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:47360600-47387000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr3:47360600-47387200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr3:47360600-47387600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:47360600-47387600	Strong transcription	Fetal Thymus	thymus
16	chr3:47360600-47387800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:47360600-47387800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:47360600-47388200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr3:47360600-47388800	Strong transcription	Primary T cells from cord blood	blood
20	chr3:47360800-47375200	Weak transcription	Fetal Heart	heart
21	chr3:47360800-47378800	Weak transcription	Fetal Kidney	kidney
22	chr3:47360800-47386800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:47360800-47388000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr3:47361000-47381800	Strong transcription	Dnd41	blood
25	chr3:47361000-47382800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:47361000-47387400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr3:47361000-47387800	Strong transcription	Brain Cingulate Gyrus	brain
28	chr3:47361000-47388000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:47361000-47388200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:47361000-47388200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr3:47361200-47378800	Strong transcription	Fetal Muscle Leg	muscle
32	chr3:47361200-47383200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:47361200-47387600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:47361200-47388000	Strong transcription	Adipose Nuclei	Adipose
35	chr3:47361200-47388000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr3:47361400-47388000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:47361400-47389800	Weak transcription	Right Atrium	heart
38	chr3:47361800-47386600	Strong transcription	Lung	lung
39	chr3:47361800-47387400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:47361800-47388200	Strong transcription	Fetal Brain Female	brain
41	chr3:47362200-47388600	Strong transcription	Brain Germinal Matrix	brain
42	chr3:47362400-47379000	Weak transcription	Fetal Brain Male	brain
43	chr3:47363400-47374000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:47363400-47376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:47363600-47375800	Weak transcription	Fetal Lung	lung
46	chr3:47363600-47377400	Weak transcription	Hela-S3	cervix
47	chr3:47363800-47387400	Weak transcription	Stomach Mucosa	stomach
48	chr3:47364200-47374800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:47364200-47382200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:47365600-47374200	Weak transcription	Brain Substantia Nigra	brain

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