Variant report

Variant	rs7753531
Chromosome Location	chr6:79789996-79789997
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr6:79789538-79790273	K562	blood:	n/a	n/a
2	ARID3A	chr6:79787980-79790015	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:79788686..79790517-chr6:80354906..80356790,2	K562	blood:
2	chr6:79785468..79790645-chr6:79941426..79946271,8	K562	blood:
3	chr6:79789634..79791337-chr6:80176211..80178981,2	K562	blood:
4	chr6:79787878..79790499-chr6:79943656..79946271,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRAK1BP1-3	chr6:79787562-79790141	NONHSAT113677

No data

Variant related genes	Relation type
PHIP	TF binding region
ENSG00000118418	Chromatin interaction
ENSG00000270362	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1044309	0.90[CHD][hapmap];0.97[GIH][hapmap];0.87[LWK][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs10455356	0.82[ASN][1000 genomes]
rs10755377	0.80[ASN][1000 genomes]
rs10943605	0.90[CHD][hapmap];0.97[GIH][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap]
rs10943608	0.90[CHD][hapmap]
rs10943609	0.81[ASN][1000 genomes]
rs10943613	0.82[ASW][hapmap];0.92[CEU][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10943616	0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs11752126	0.84[ASN][1000 genomes]
rs11754419	0.85[ASN][1000 genomes]
rs12196457	0.80[ASN][1000 genomes]
rs12660770	0.82[ASN][1000 genomes]
rs13191068	0.85[ASN][1000 genomes]
rs13204088	0.89[ASN][1000 genomes]
rs1413968	0.95[ASN][1000 genomes]
rs1413969	0.95[ASN][1000 genomes]
rs1415859	0.97[ASN][1000 genomes]
rs1538233	0.81[CHB][hapmap];0.87[ASN][1000 genomes]
rs1538235	0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs1547731	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1572584	0.80[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs1572585	0.87[CHD][hapmap];0.97[GIH][hapmap];0.85[MKK][hapmap];0.85[ASN][1000 genomes]
rs1890229	0.90[CHD][hapmap];0.97[GIH][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];0.90[MKK][hapmap];0.85[YRI][hapmap];0.86[ASN][1000 genomes]
rs1984195	0.90[CHD][hapmap];0.97[GIH][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap];0.81[ASN][1000 genomes]
rs2050659	0.84[ASN][1000 genomes]
rs2050660	0.89[CHD][hapmap];0.97[GIH][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs2050661	0.90[CHD][hapmap];0.97[GIH][hapmap];0.87[LWK][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs2050662	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2050663	0.90[CHD][hapmap];0.97[GIH][hapmap]
rs2063123	0.80[ASN][1000 genomes]
rs2095724	0.85[ASN][1000 genomes]
rs2105143	0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs2152951	0.90[CHD][hapmap];0.97[GIH][hapmap];0.87[MKK][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2174739	0.87[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs2174743	0.87[CHD][hapmap];0.97[GIH][hapmap];0.80[LWK][hapmap];0.85[MKK][hapmap]
rs35887627	0.81[ASN][1000 genomes]
rs36128361	0.84[ASN][1000 genomes]
rs3805747	0.85[YRI][hapmap];0.80[ASN][1000 genomes]
rs3902856	0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs4565265	0.85[ASN][1000 genomes]
rs4706079	0.90[CHD][hapmap];0.97[GIH][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap]
rs4706080	0.90[CHD][hapmap];0.97[GIH][hapmap];0.85[MKK][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4706743	0.90[CHD][hapmap]
rs4706747	0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs6454092	0.82[ASN][1000 genomes]
rs6915558	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6940637	0.85[ASN][1000 genomes]
rs7741943	0.81[ASN][1000 genomes]
rs7742034	0.95[CHD][hapmap];0.97[GIH][hapmap];0.87[MKK][hapmap];0.85[ASN][1000 genomes]
rs7742431	0.82[ASN][1000 genomes]
rs7756858	0.84[ASN][1000 genomes]
rs7760866	0.82[ASN][1000 genomes]
rs9343848	0.80[ASN][1000 genomes]
rs9343856	0.90[CHD][hapmap];0.97[GIH][hapmap];0.87[MKK][hapmap];0.80[ASN][1000 genomes]
rs9343860	0.85[ASN][1000 genomes]
rs9343861	0.85[ASN][1000 genomes]
rs9343863	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9343870	0.97[ASN][1000 genomes]
rs9350794	0.84[ASN][1000 genomes]
rs9350799	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9350800	0.85[ASN][1000 genomes]
rs9352676	0.80[ASN][1000 genomes]
rs9352683	0.90[CHD][hapmap];0.97[GIH][hapmap];0.87[LWK][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs9352686	0.81[CHB][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9352691	0.90[CHD][hapmap];0.91[ASN][1000 genomes]
rs9352694	0.95[ASN][1000 genomes]
rs9359354	0.90[CHD][hapmap];0.97[GIH][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap]
rs9359359	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9359360	0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs9359362	0.81[ASN][1000 genomes]
rs9359364	0.81[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs9361466	0.84[ASN][1000 genomes]
rs9361467	0.80[ASN][1000 genomes]
rs9361477	0.84[ASN][1000 genomes]
rs9361480	0.90[CHD][hapmap];0.97[GIH][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs9361482	0.91[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9361488	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9443626	0.84[ASN][1000 genomes]
rs9443632	0.81[ASN][1000 genomes]
rs9443637	0.92[CEU][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9443638	0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs9443643	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9443645	0.95[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs9448596	0.84[ASN][1000 genomes]
rs9448607	0.92[CEU][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9448610	0.91[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7753531	IRAK1BP1	cis	Heart Left Ventricle	GTEx
rs7753531	IRAK1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79783800-79790600	Active TSS	K562	blood
2	chr6:79785200-79790000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:79788600-79790000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:79788800-79793600	Weak transcription	Spleen	Spleen
5	chr6:79789000-79790000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr6:79789200-79790000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:79789200-79790000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr6:79789200-79790000	Enhancers	Brain Substantia Nigra	brain
9	chr6:79789200-79790000	Flanking Active TSS	Dnd41	blood
10	chr6:79789200-79790200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:79789200-79793600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:79789400-79790000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:79789400-79791400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:79789600-79790000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:79789600-79794400	Weak transcription	HepG2	liver
16	chr6:79789800-79790000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:79789800-79790000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:79789800-79790000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:79789800-79790000	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:79789800-79790000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:79789800-79790000	Enhancers	Brain Anterior Caudate	brain
22	chr6:79789800-79790000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr6:79789800-79790000	Enhancers	Fetal Lung	lung
24	chr6:79789800-79790000	Enhancers	A549	lung
25	chr6:79789800-79790000	Enhancers	HUVEC	blood vessel
26	chr6:79789800-79790200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:79789800-79790200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:79789800-79790600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:79789800-79790800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:79789800-79790800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:79789800-79791200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:79789800-79791400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:79789800-79793200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr6:79789800-79793600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:79789800-79793600	Weak transcription	Adipose Nuclei	Adipose
36	chr6:79789800-79793600	Weak transcription	Liver	Liver
37	chr6:79789800-79794200	Weak transcription	NHDF-Ad	bronchial

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