Variant report

Variant	rs9448601
Chromosome Location	chr6:79681369-79681370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79670696..79672436-chr6:79680016..79682587,2	K562	blood:
2	chr6:79672073..79674100-chr6:79679412..79681765,2	MCF-7	breast:
3	chr6:79677433..79679075-chr6:79680462..79682504,2	K562	blood:

Variant related genes	Relation type
ENSG00000251969	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10806154	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758432	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11964204	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192086	0.84[ASN][1000 genomes]
rs1338023	0.93[ASN][1000 genomes]
rs2275290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275291	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805746	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3818839	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3929867	0.92[ASN][1000 genomes]
rs6908105	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7740307	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7750836	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7756648	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9343849	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9343853	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9343859	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9343865	0.88[ASN][1000 genomes]
rs9343867	0.86[ASN][1000 genomes]
rs9343869	0.86[ASN][1000 genomes]
rs9350797	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9350801	0.88[ASN][1000 genomes]
rs9352672	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9352679	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9352685	0.86[ASN][1000 genomes]
rs9352688	0.86[ASN][1000 genomes]
rs9352693	0.82[ASN][1000 genomes]
rs9352701	0.81[ASN][1000 genomes]
rs9359361	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9361473	0.99[ASN][1000 genomes]
rs9361478	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9361481	0.93[ASN][1000 genomes]
rs9361483	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9361497	0.81[ASN][1000 genomes]
rs9443623	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9443642	0.83[ASN][1000 genomes]
rs9448594	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9448600	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448602	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9448616	0.88[ASN][1000 genomes]
rs9448647	0.80[ASN][1000 genomes]
rs956550	0.81[ASN][1000 genomes]
rs9688928	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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9448601	IRAK1BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs9448601	IRAK1BP1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79648800-79714400	Weak transcription	Gastric	stomach
2	chr6:79649000-79715200	Weak transcription	Stomach Mucosa	stomach
3	chr6:79649600-79681400	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr6:79658600-79695000	Weak transcription	Pancreas	Pancrea
5	chr6:79659200-79681400	Strong transcription	Adipose Nuclei	Adipose
6	chr6:79659200-79702800	Weak transcription	Psoas Muscle	Psoas
7	chr6:79659400-79702400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:79659400-79707000	Weak transcription	Esophagus	oesophagus
9	chr6:79659600-79704000	Weak transcription	Lung	lung
10	chr6:79659600-79707000	Weak transcription	Spleen	Spleen
11	chr6:79659800-79681400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr6:79659800-79681400	Strong transcription	Primary hematopoietic stem cells	blood
13	chr6:79659800-79681400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:79659800-79681400	Strong transcription	Liver	Liver
15	chr6:79659800-79681400	Strong transcription	Dnd41	blood
16	chr6:79659800-79684600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:79659800-79702600	Weak transcription	Right Ventricle	heart
18	chr6:79659800-79703400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:79659800-79704000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:79659800-79707000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:79660000-79681400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:79661200-79681400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:79662400-79681400	Strong transcription	Fetal Intestine Large	intestine
24	chr6:79662800-79681400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:79663200-79681400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:79663200-79681400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:79663200-79687200	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:79664200-79695000	Weak transcription	Fetal Stomach	stomach
29	chr6:79664200-79698000	Weak transcription	Fetal Intestine Small	intestine
30	chr6:79664200-79702400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:79667200-79681400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:79667800-79681400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:79667800-79681400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:79669000-79681400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr6:79669400-79681400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:79669800-79707000	Weak transcription	Aorta	Aorta
37	chr6:79671000-79681400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr6:79671400-79681400	Strong transcription	Fetal Lung	lung
39	chr6:79671600-79687400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:79671600-79693200	Weak transcription	Thymus	Thymus
41	chr6:79672000-79687600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr6:79672800-79702600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:79675200-79687000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:79675200-79687200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:79675200-79687200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:79675200-79689800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:79675200-79690000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:79675200-79693200	Weak transcription	Colonic Mucosa	Colon
49	chr6:79675200-79702200	Weak transcription	Brain Angular Gyrus	brain
50	chr6:79675200-79704600	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links