Variant report

Variant	rs4151601
Chromosome Location	chr13:49035693-49035694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs174857	0.88[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]
rs1926596	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs198564	0.85[ASN][1000 genomes]
rs198568	0.88[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs198571	0.88[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs198574	0.88[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs198575	0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs198576	0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs198577	0.85[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs198606	0.88[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs198609	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs198610	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs198614	0.88[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs198622	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs2274400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2804094	0.81[JPT][hapmap]
rs2804095	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs28414460	0.87[ASN][1000 genomes]
rs2854342	0.81[JPT][hapmap]
rs2854348	0.81[JPT][hapmap]
rs2854353	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs2854357	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs2854362	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs28646083	0.87[ASN][1000 genomes]
rs28674973	0.80[ASN][1000 genomes]
rs3092888	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap]
rs3092898	0.91[ASN][1000 genomes]
rs3092899	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs3751380	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs3825419	0.86[JPT][hapmap]
rs398158	0.88[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs403390	0.88[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs406098	0.88[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs4151434	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs4151442	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap]
rs4151448	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap]
rs4151452	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4151456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151474	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4151525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs425834	0.88[CHB][hapmap]
rs427686	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs56871512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58001261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58854758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60887299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6561448	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs6561457	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs6561461	0.85[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs7325962	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs7329865	1.00[CEU][hapmap];0.86[CHD][hapmap]
rs7331851	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap]
rs73495016	0.85[ASN][1000 genomes]
rs7981869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7987935	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7989969	1.00[AFR][1000 genomes]
rs7995216	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap]
rs7996186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7998781	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs8001241	0.88[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs8002565	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs9331959	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9331965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9331973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9332054	0.88[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49017400-49062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:49018000-49062400	Weak transcription	Fetal Brain Male	brain
3	chr13:49020800-49062000	Weak transcription	Fetal Kidney	kidney
4	chr13:49021200-49058600	Weak transcription	Hela-S3	cervix
5	chr13:49023800-49061000	Weak transcription	Small Intestine	intestine
6	chr13:49023800-49073800	Weak transcription	NH-A	brain
7	chr13:49024000-49059000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:49025600-49041200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:49025600-49056800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:49025600-49066200	Weak transcription	Psoas Muscle	Psoas
11	chr13:49026600-49039400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:49026800-49039400	Strong transcription	Dnd41	blood
13	chr13:49026800-49039600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr13:49027000-49039800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr13:49027200-49039200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:49027200-49039600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:49027200-49039800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:49027400-49036800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr13:49027400-49039800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:49027600-49039800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr13:49027600-49049200	Weak transcription	A549	lung
22	chr13:49027800-49039200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:49027800-49043000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:49028000-49039200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr13:49028000-49071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:49028600-49039800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:49029000-49038600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr13:49029000-49038600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:49029000-49046000	Weak transcription	HSMMtube	muscle
30	chr13:49029200-49038800	Weak transcription	Osteobl	bone
31	chr13:49029200-49062000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:49029400-49052400	Weak transcription	K562	blood
33	chr13:49030000-49036400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr13:49030200-49037000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:49030400-49038200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr13:49030600-49070600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr13:49030800-49038800	Weak transcription	HUVEC	blood vessel
38	chr13:49031000-49039600	Strong transcription	Fetal Thymus	thymus
39	chr13:49031600-49038600	Weak transcription	GM12878-XiMat	blood
40	chr13:49031600-49049600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr13:49031600-49055800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr13:49031600-49066200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr13:49031800-49041200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr13:49031800-49045800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr13:49031800-49052000	Weak transcription	HepG2	liver
46	chr13:49031800-49052600	Weak transcription	Placenta	Placenta
47	chr13:49031800-49059200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr13:49031800-49060200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:49031800-49060600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr13:49031800-49065400	Weak transcription	Brain Substantia Nigra	brain

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