Variant report

Variant	rs295459
Chromosome Location	chr3:47365055-47365056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47363238..47365609-chr3:47422323..47423972,2	MCF-7	breast:
2	chr3:47357694..47362464-chr3:47362974..47365576,6	K562	blood:
3	chr3:47322565..47325019-chr3:47364031..47366358,2	MCF-7	breast:
4	chr3:47291130..47293100-chr3:47363237..47365913,2	K562	blood:
5	chr3:47363779..47366385-chr3:47368780..47371559,2	K562	blood:
6	chr3:47321694..47325254-chr3:47364540..47367485,3	K562	blood:
7	chr3:47304767..47306689-chr3:47364605..47367397,2	K562	blood:
8	chr3:47291791..47293295-chr3:47365030..47366331,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000088727	Chromatin interaction
ENSG00000260236	Chromatin interaction
ENSG00000239128	Chromatin interaction
ENSG00000076201	Chromatin interaction
ENSG00000114648	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1024036	1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];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	1.00[YRI][hapmap];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	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];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]
rs12491029	1.00[YRI][hapmap]
rs12631697	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13077134	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13323092	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs1531874	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1872165	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];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[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];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[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295434	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295443	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];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	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295450	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295451	0.82[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];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[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295456	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295457	0.82[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];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	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858812	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858823	1.00[YRI][hapmap];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[TSI][hapmap];1.00[EUR][1000 genomes]
rs6442068	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442069	1.00[YRI][hapmap];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	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6775797	1.00[EUR][1000 genomes]
rs6778673	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6778687	0.95[YRI][hapmap];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	0.95[YRI][hapmap];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	1.00[YRI][hapmap];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	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs7639121	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];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[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7644382	1.00[EUR][1000 genomes]
rs7649413	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs807930	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];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	0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900690	1.00[YRI][hapmap];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]
rs900693	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs900694	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs903538	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs924009	0.89[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]
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]
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	chr3:47325600-47367600	Weak transcription	A549	lung
2	chr3:47333800-47371400	Weak transcription	Psoas Muscle	Psoas
3	chr3:47338600-47369800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:47338600-47371200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:47345000-47370000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr3:47345200-47365200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:47356400-47371200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:47356800-47382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:47357200-47365200	Weak transcription	Small Intestine	intestine
10	chr3:47357200-47368800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:47357200-47374800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:47358800-47387000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr3:47359400-47365800	Strong transcription	Primary B cells from cord blood	blood
14	chr3:47359400-47385000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:47359400-47387200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr3:47359400-47387800	Strong transcription	Spleen	Spleen
17	chr3:47359600-47386800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr3:47360000-47382600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:47360000-47388200	Strong transcription	Fetal Intestine Large	intestine
20	chr3:47360200-47365800	Strong transcription	Thymus	Thymus
21	chr3:47360400-47365800	Strong transcription	GM12878-XiMat	blood
22	chr3:47360400-47387000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:47360400-47388000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:47360600-47387000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:47360600-47387200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:47360600-47387600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:47360600-47387600	Strong transcription	Fetal Thymus	thymus
28	chr3:47360600-47387800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:47360600-47387800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:47360600-47388200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr3:47360600-47388800	Strong transcription	Primary T cells from cord blood	blood
32	chr3:47360800-47368600	Strong transcription	Fetal Intestine Small	intestine
33	chr3:47360800-47375200	Weak transcription	Fetal Heart	heart
34	chr3:47360800-47378800	Weak transcription	Fetal Kidney	kidney
35	chr3:47360800-47386800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:47360800-47388000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:47361000-47365200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:47361000-47365200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr3:47361000-47365200	Strong transcription	Fetal Stomach	stomach
40	chr3:47361000-47365800	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr3:47361000-47365800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:47361000-47366200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr3:47361000-47367400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:47361000-47370200	Strong transcription	Aorta	Aorta
45	chr3:47361000-47381800	Strong transcription	Dnd41	blood
46	chr3:47361000-47382800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:47361000-47387400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr3:47361000-47387800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr3:47361000-47388000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:47361000-47388200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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