Variant report

Variant	rs1047322
Chromosome Location	chr5:118735107-118735108
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	chr5:118730216..118732111-chr5:118733565..118735307,2	K562	blood:
2	chr5:118607471..118609020-chr5:118732482..118735110,2	MCF-7	breast:
3	chr5:118734864..118737274-chr5:118738803..118740813,2	MCF-7	breast:
4	chr5:118732923..118735569-chr5:118740820..118742719,2	MCF-7	breast:
5	chr5:118722584..118724806-chr5:118734610..118737360,3	K562	blood:
6	chr5:118733874..118736884-chr5:118738369..118742486,6	K562	blood:
7	chr5:118721777..118723787-chr5:118732955..118735466,2	K562	blood:
8	chr5:118734827..118736756-chr5:118738369..118740930,2	K562	blood:

No data

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10077888	1.00[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10478421	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10478422	0.91[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1105769	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1105770	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11205	0.91[CHB][hapmap]
rs11241507	0.91[CHB][hapmap]
rs1155777	0.91[CHB][hapmap]
rs11949608	0.86[CHB][hapmap]
rs1490756	0.86[CHB][hapmap];0.80[GIH][hapmap];1.00[LWK][hapmap]
rs1509144	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs150938	0.91[CHB][hapmap]
rs165995	0.84[CHB][hapmap]
rs17145464	0.86[CHB][hapmap]
rs1848554	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs192225	0.81[JPT][hapmap]
rs193346	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1995794	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2455466	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2455467	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2457222	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs250302	0.84[JPT][hapmap]
rs250303	0.90[JPT][hapmap];1.00[LWK][hapmap]
rs257969	0.84[ASW][hapmap];0.86[CHB][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap]
rs257973	1.00[LWK][hapmap]
rs257985	0.91[CHB][hapmap]
rs258047	0.83[AMR][1000 genomes]
rs258050	0.83[AMR][1000 genomes]
rs258051	0.83[AMR][1000 genomes]
rs2914210	0.84[ASW][hapmap];0.91[CHB][hapmap];1.00[LWK][hapmap]
rs32652	0.84[JPT][hapmap];1.00[LWK][hapmap]
rs32654	0.81[CEU][hapmap];0.84[JPT][hapmap]
rs3733855	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3797368	0.84[ASW][hapmap];0.95[CHB][hapmap];0.84[GIH][hapmap];1.00[LWK][hapmap]
rs3797372	0.91[CHB][hapmap];0.80[GIH][hapmap]
rs3813309	0.84[JPT][hapmap];1.00[LWK][hapmap]
rs3822527	0.80[CHB][hapmap]
rs455991	0.91[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs457106	1.00[LWK][hapmap]
rs4895369	0.81[CEU][hapmap]
rs6874848	0.90[JPT][hapmap]
rs6888436	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6888463	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6893184	0.95[EUR][1000 genomes]
rs7716785	0.89[CHB][hapmap]
rs7721752	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs924623	1.00[ASW][hapmap];0.88[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118702800-118736000	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:118718600-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:118723000-118747600	Weak transcription	Pancreas	Pancrea
5	chr5:118725000-118735600	Weak transcription	Fetal Intestine Large	intestine
6	chr5:118725400-118736200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:118725400-118741200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:118725600-118735800	Weak transcription	Aorta	Aorta
9	chr5:118725600-118737800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:118725800-118737800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:118725800-118737800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:118725800-118737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:118726000-118736000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:118727000-118738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:118727000-118740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:118727400-118735800	Weak transcription	Fetal Intestine Small	intestine
17	chr5:118728800-118736000	Weak transcription	Fetal Stomach	stomach
18	chr5:118729000-118738600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:118729600-118738000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:118729600-118747400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:118730200-118738000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:118730200-118741000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:118731400-118735800	Weak transcription	Dnd41	blood
24	chr5:118731400-118736200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:118731400-118736200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:118731400-118736800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:118731600-118738000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:118731600-118738800	Weak transcription	Thymus	Thymus
29	chr5:118731800-118746600	Weak transcription	Primary T cells from cord blood	blood
30	chr5:118732200-118745000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:118732800-118736400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:118732800-118736600	Enhancers	NHEK	skin
33	chr5:118733000-118735200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:118733000-118736800	Enhancers	Duodenum Mucosa	Duodenum
35	chr5:118733200-118736800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr5:118733400-118736600	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:118733400-118736800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:118733600-118736200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:118733600-118736200	Enhancers	Small Intestine	intestine
40	chr5:118733600-118736400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:118733600-118736800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:118733800-118735200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:118733800-118735200	Enhancers	A549	lung
44	chr5:118733800-118736400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:118733800-118736400	Enhancers	NHDF-Ad	bronchial
46	chr5:118734000-118735400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:118734000-118736000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:118734000-118736200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:118734000-118736400	Enhancers	GM12878-XiMat	blood
50	chr5:118734000-118736400	Enhancers	Osteobl	bone

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