Variant report

Variant	rs9352691
Chromosome Location	chr6:79785607-79785608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79782683..79789958-chr6:79939846..79945776,22	MCF-7	breast:
2	chr6:79577225..79578806-chr6:79784648..79786637,2	K562	blood:
3	chr6:79785425..79789135-chr6:79942833..79950296,12	MCF-7	breast:
4	chr6:79785468..79790645-chr6:79941426..79946271,8	K562	blood:
5	chr6:79784764..79788097-chr6:80246158..80249987,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146243	Chromatin interaction
ENSG00000270362	Chromatin interaction
ENSG00000135338	Chromatin interaction
ENSG00000118418	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1044309	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10455120	0.84[CEU][hapmap]
rs10455356	0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs10755377	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10943600	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10943605	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10943608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10943609	0.88[ASN][1000 genomes]
rs10943613	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs10943616	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs11752126	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11754419	0.93[ASN][1000 genomes]
rs12196457	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12660770	0.89[ASN][1000 genomes]
rs13191068	0.93[ASN][1000 genomes]
rs13204088	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1354831	0.84[ASN][1000 genomes]
rs1354832	0.84[ASN][1000 genomes]
rs1413968	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1413969	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1415859	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1538233	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1538235	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs1547731	0.99[ASN][1000 genomes]
rs1572584	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1572585	0.94[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1890229	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1984195	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2050659	0.91[ASN][1000 genomes]
rs2050660	0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2050661	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2050662	0.96[ASN][1000 genomes]
rs2050663	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs2063123	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2095724	0.93[ASN][1000 genomes]
rs2105143	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2152951	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2174739	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2174742	0.84[ASN][1000 genomes]
rs2174743	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap]
rs35887627	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36128361	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805747	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3902856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4565265	0.93[ASN][1000 genomes]
rs4706079	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs4706080	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs4706742	0.84[ASN][1000 genomes]
rs4706743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4706746	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4706747	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs55755815	0.84[ASN][1000 genomes]
rs56057971	0.84[ASN][1000 genomes]
rs6454092	0.90[ASN][1000 genomes]
rs6915558	0.96[ASN][1000 genomes]
rs6940637	0.92[ASN][1000 genomes]
rs7741943	0.88[ASN][1000 genomes]
rs7742034	1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs7742431	0.87[ASN][1000 genomes]
rs7753531	0.90[CHD][hapmap];0.91[ASN][1000 genomes]
rs7756858	0.88[ASN][1000 genomes]
rs7760866	0.87[ASN][1000 genomes]
rs9343844	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9343848	0.86[ASN][1000 genomes]
rs9343856	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs9343860	0.93[ASN][1000 genomes]
rs9343861	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9343863	0.85[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9343870	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9350792	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9350794	0.88[ASN][1000 genomes]
rs9350799	0.91[ASN][1000 genomes]
rs9350800	0.93[ASN][1000 genomes]
rs9352675	0.84[ASN][1000 genomes]
rs9352676	0.86[ASN][1000 genomes]
rs9352683	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs9352686	0.95[CHB][hapmap];0.88[JPT][hapmap];0.96[ASN][1000 genomes]
rs9352694	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9359354	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs9359359	0.91[ASN][1000 genomes]
rs9359360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9359362	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9359364	0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9361460	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9361466	0.88[ASN][1000 genomes]
rs9361467	0.86[ASN][1000 genomes]
rs9361477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9361480	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs9361482	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs9361488	0.98[ASN][1000 genomes]
rs9443626	0.88[ASN][1000 genomes]
rs9443632	0.88[ASN][1000 genomes]
rs9443637	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs9443638	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs9443643	0.93[ASN][1000 genomes]
rs9443645	0.90[CHB][hapmap];0.90[CHD][hapmap];0.88[ASN][1000 genomes]
rs9448590	0.84[ASN][1000 genomes]
rs9448591	0.84[ASN][1000 genomes]
rs9448596	0.88[ASN][1000 genomes]
rs9448607	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs9448610	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs946022	0.87[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	nsv830705	chr6:79659297-79829530	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv518477	chr6:79700159-79850427	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9352691	IRAK1BP1	cis	Artery Tibial	GTEx
rs9352691	IRAK1BP1	cis	cerebellum	SCAN
rs9352691	IRAK1BP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79704600-79786600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:79707400-79786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:79707400-79786600	Weak transcription	Esophagus	oesophagus
4	chr6:79730000-79786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:79760600-79786800	Weak transcription	Spleen	Spleen
6	chr6:79768600-79786400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:79770400-79786600	Weak transcription	Lung	lung
8	chr6:79770600-79785800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:79770600-79786000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:79775200-79785800	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:79775200-79786600	Weak transcription	Pancreas	Pancrea
12	chr6:79775400-79786600	Weak transcription	Gastric	stomach
13	chr6:79777000-79786000	Weak transcription	Left Ventricle	heart
14	chr6:79778200-79785800	Weak transcription	Ovary	ovary
15	chr6:79780200-79785800	Enhancers	Colon Smooth Muscle	Colon
16	chr6:79781000-79786000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:79781000-79786000	Weak transcription	Small Intestine	intestine
18	chr6:79782600-79785800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:79782600-79786200	Weak transcription	Placenta	Placenta
20	chr6:79782800-79785800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:79783000-79785800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:79783200-79785800	Enhancers	Brain Substantia Nigra	brain
23	chr6:79783600-79785800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:79783800-79786000	Enhancers	Fetal Heart	heart
25	chr6:79783800-79790600	Active TSS	K562	blood
26	chr6:79784000-79789000	Active TSS	NHLF	lung
27	chr6:79784000-79789800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:79784000-79789800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr6:79784200-79786000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr6:79784200-79786200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:79784400-79789400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:79784400-79789600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:79784600-79785800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:79784600-79785800	Flanking Active TSS	HUVEC	blood vessel
35	chr6:79784600-79789800	Active TSS	Fetal Brain Female	brain
36	chr6:79784800-79785800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:79784800-79785800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr6:79784800-79786000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:79784800-79786200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:79784800-79789400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:79784800-79789600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr6:79785000-79785800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:79785000-79785800	Enhancers	Fetal Intestine Small	intestine
44	chr6:79785000-79785800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr6:79785000-79785800	Flanking Active TSS	HepG2	liver
46	chr6:79785000-79786000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr6:79785000-79786000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr6:79785000-79786200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr6:79785000-79786200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:79785000-79786200	Flanking Active TSS	Brain Hippocampus Middle	brain

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