Variant report

Variant	rs9448607
Chromosome Location	chr6:79715620-79715621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1044309	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10455356	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10755377	0.93[ASN][1000 genomes]
rs10943600	0.90[ASN][1000 genomes]
rs10943605	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10943608	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10943609	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10943613	0.82[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[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943616	0.90[CHB][hapmap]
rs11752126	0.97[ASN][1000 genomes]
rs11754419	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12153837	0.82[ASN][1000 genomes]
rs12193319	0.83[ASN][1000 genomes]
rs12196457	0.93[ASN][1000 genomes]
rs12660770	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13191068	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13202531	0.84[ASN][1000 genomes]
rs13204088	0.93[ASN][1000 genomes]
rs1354831	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1354832	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1413968	0.84[ASN][1000 genomes]
rs1413969	0.84[ASN][1000 genomes]
rs1415859	0.85[ASN][1000 genomes]
rs1538233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538235	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1547731	0.92[ASN][1000 genomes]
rs1567167	0.80[ASN][1000 genomes]
rs1572584	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1572585	0.81[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1890229	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1984195	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2050659	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2050660	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2050661	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2050662	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2050663	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs2063123	0.93[ASN][1000 genomes]
rs2095724	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2105143	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2152951	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[ASN][1000 genomes]
rs2174739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2174742	0.92[ASN][1000 genomes]
rs2174743	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs35887627	0.94[ASN][1000 genomes]
rs36128361	0.97[ASN][1000 genomes]
rs3805747	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3902856	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4565265	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4706079	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4706080	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.93[ASN][1000 genomes]
rs4706742	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4706743	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4706746	0.91[ASN][1000 genomes]
rs4706747	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55755815	0.91[ASN][1000 genomes]
rs56057971	0.92[ASN][1000 genomes]
rs6454092	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6915558	0.95[ASN][1000 genomes]
rs6937465	0.80[ASN][1000 genomes]
rs6940637	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7741943	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7742034	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7742431	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7753531	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]
rs7756858	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7760866	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9341754	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs9343843	0.83[ASN][1000 genomes]
rs9343844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9343848	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9343856	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9343860	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9343861	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs9343863	0.86[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9343870	0.85[ASN][1000 genomes]
rs9350792	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs9350794	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9350799	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9350800	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9352664	0.80[ASN][1000 genomes]
rs9352665	0.80[ASN][1000 genomes]
rs9352667	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs9352669	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9352670	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs9352675	0.91[ASN][1000 genomes]
rs9352676	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9352683	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9352686	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs9352691	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs9352694	0.84[ASN][1000 genomes]
rs9359354	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[ASN][1000 genomes]
rs9359359	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359360	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs9359362	0.94[ASN][1000 genomes]
rs9359364	0.95[CHB][hapmap];0.92[CHD][hapmap];0.85[ASN][1000 genomes]
rs9361460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9361466	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9361467	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9361472	0.83[ASN][1000 genomes]
rs9361477	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs9361480	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9361482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9361488	0.91[ASN][1000 genomes]
rs9443621	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs9443622	0.85[ASN][1000 genomes]
rs9443626	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9443632	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9443637	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9443643	0.86[ASN][1000 genomes]
rs9443645	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.81[ASN][1000 genomes]
rs9448584	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs9448588	0.86[ASN][1000 genomes]
rs9448590	0.91[ASN][1000 genomes]
rs9448591	0.91[ASN][1000 genomes]
rs9448596	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9448597	0.82[ASN][1000 genomes]
rs9448610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946022	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs971994	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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
3	nsv604051	chr6:79691175-79728328	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9448607	IRAK1BP1	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79687000-79715800	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr6:79687000-79715800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:79687000-79736000	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:79687000-79736200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr6:79687200-79716000	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:79687200-79717600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:79687200-79735400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:79687200-79741600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr6:79687600-79718600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:79687600-79775000	Strong transcription	Dnd41	blood
11	chr6:79687800-79736000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:79688400-79742800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:79688400-79744400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:79689200-79738800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:79700400-79715800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:79704000-79737400	Weak transcription	Right Ventricle	heart
17	chr6:79704600-79730400	Weak transcription	Fetal Intestine Small	intestine
18	chr6:79704600-79786600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:79705000-79738600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:79705200-79732800	Weak transcription	Lung	lung
21	chr6:79705800-79717400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:79706000-79719000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:79706000-79725200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:79706600-79740000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:79706600-79747800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:79707400-79731800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:79707400-79737400	Weak transcription	Spleen	Spleen
28	chr6:79707400-79740000	Weak transcription	Small Intestine	intestine
29	chr6:79707400-79755800	Weak transcription	Pancreas	Pancrea
30	chr6:79707400-79786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:79707400-79786600	Weak transcription	Esophagus	oesophagus
32	chr6:79707600-79717600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:79707800-79745200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:79708200-79732800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:79708200-79741800	Weak transcription	A549	lung
36	chr6:79708800-79769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:79709000-79733600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:79709000-79737400	Weak transcription	Ovary	ovary
39	chr6:79709200-79724800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:79709200-79725600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:79709400-79726600	Weak transcription	Fetal Brain Male	brain
42	chr6:79710400-79716000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:79710800-79774600	Weak transcription	Psoas Muscle	Psoas
44	chr6:79711400-79719600	Weak transcription	Brain Germinal Matrix	brain
45	chr6:79711800-79724800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr6:79711800-79732200	Weak transcription	NHEK	skin
47	chr6:79711800-79735000	Weak transcription	Colonic Mucosa	Colon
48	chr6:79712200-79741600	Weak transcription	HSMMtube	muscle
49	chr6:79712400-79732000	Weak transcription	HMEC	breast
50	chr6:79712400-79735400	Weak transcription	Brain Substantia Nigra	brain

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