Variant report

Variant	rs1413968
Chromosome Location	chr6:79791042-79791043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79790368..79792408-chr6:79792829..79795450,2	MCF-7	breast:
2	chr6:79790387..79792980-chr6:79795738..79797309,2	MCF-7	breast:
3	chr6:79789634..79791337-chr6:80176211..80178981,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1044309	0.82[ASN][1000 genomes]
rs10755377	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10943600	0.81[EUR][1000 genomes]
rs10943608	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10943609	0.81[ASN][1000 genomes]
rs10943613	0.84[ASN][1000 genomes]
rs10943616	0.92[ASN][1000 genomes]
rs11752126	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11754419	0.85[ASN][1000 genomes]
rs12196457	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12660770	0.82[ASN][1000 genomes]
rs13191068	0.85[ASN][1000 genomes]
rs13204088	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1413969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1415859	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1538233	0.84[ASN][1000 genomes]
rs1538235	0.82[ASN][1000 genomes]
rs1547731	0.91[ASN][1000 genomes]
rs1572584	0.83[ASN][1000 genomes]
rs1572585	0.85[ASN][1000 genomes]
rs1890229	0.83[ASN][1000 genomes]
rs1984195	0.81[ASN][1000 genomes]
rs2050659	0.84[ASN][1000 genomes]
rs2050660	0.81[ASN][1000 genomes]
rs2050661	0.81[ASN][1000 genomes]
rs2050662	0.88[ASN][1000 genomes]
rs2063123	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2095724	0.85[ASN][1000 genomes]
rs2105143	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2152951	0.89[ASN][1000 genomes]
rs35887627	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36128361	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3805747	0.80[ASN][1000 genomes]
rs3902856	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4565265	0.85[ASN][1000 genomes]
rs4706080	0.89[ASN][1000 genomes]
rs4706743	0.83[EUR][1000 genomes]
rs4706746	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4706747	0.85[ASN][1000 genomes]
rs6454092	0.82[ASN][1000 genomes]
rs6915558	0.88[ASN][1000 genomes]
rs6940637	0.85[ASN][1000 genomes]
rs7741943	0.81[ASN][1000 genomes]
rs7742034	0.85[ASN][1000 genomes]
rs7753531	0.95[ASN][1000 genomes]
rs7756858	0.81[ASN][1000 genomes]
rs9343856	0.80[ASN][1000 genomes]
rs9343860	0.85[ASN][1000 genomes]
rs9343861	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9343863	0.87[ASN][1000 genomes]
rs9343870	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9350794	0.81[ASN][1000 genomes]
rs9350799	0.84[ASN][1000 genomes]
rs9350800	0.85[ASN][1000 genomes]
rs9352683	0.85[ASN][1000 genomes]
rs9352686	0.88[ASN][1000 genomes]
rs9352691	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9352694	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9359359	0.84[ASN][1000 genomes]
rs9359360	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9359362	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9359364	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9361466	0.81[ASN][1000 genomes]
rs9361477	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9361480	0.85[ASN][1000 genomes]
rs9361482	0.85[ASN][1000 genomes]
rs9361488	0.90[ASN][1000 genomes]
rs9443626	0.81[ASN][1000 genomes]
rs9443632	0.81[ASN][1000 genomes]
rs9443637	0.84[ASN][1000 genomes]
rs9443638	0.84[ASN][1000 genomes]
rs9443643	0.98[ASN][1000 genomes]
rs9443645	0.92[ASN][1000 genomes]
rs9448596	0.81[ASN][1000 genomes]
rs9448607	0.84[ASN][1000 genomes]
rs9448610	0.84[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1413968	IRAK1BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs1413968	IRAK1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79788800-79793600	Weak transcription	Spleen	Spleen
2	chr6:79789200-79793600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:79789400-79791400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:79789600-79794400	Weak transcription	HepG2	liver
5	chr6:79789800-79791200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:79789800-79791400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:79789800-79793200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:79789800-79793600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:79789800-79793600	Weak transcription	Adipose Nuclei	Adipose
10	chr6:79789800-79793600	Weak transcription	Liver	Liver
11	chr6:79789800-79794200	Weak transcription	NHDF-Ad	bronchial
12	chr6:79790000-79791200	Weak transcription	A549	lung
13	chr6:79790000-79791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:79790000-79791400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:79790000-79791400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:79790000-79791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:79790000-79792000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:79790000-79793400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:79790000-79793400	Weak transcription	Fetal Lung	lung
20	chr6:79790200-79791200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:79790200-79791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:79790400-79791400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:79790600-79791400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:79790600-79791400	Weak transcription	K562	blood
25	chr6:79790600-79792000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:79790800-79791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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