Variant report

Variant	rs3812161
Chromosome Location	chr6:79786645-79786646
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:182573142..182573673-chr6:79786233..79786866,2	HCT-116	colon:
2	chr19:47776842..47777558-chr6:79786410..79787079,2	Hela-S3	cervix:
3	chr6:79786363..79788558-chr6:80246704..80249654,3	K562	blood:
4	chr6:79785905..79787838-chr6:80041658..80044442,2	MCF-7	breast:
5	chr6:79785619..79787325-chr6:86387294..86389226,2	K562	blood:
6	chr6:79782683..79789958-chr6:79939846..79945776,22	MCF-7	breast:
7	chr6:79733598..79735343-chr6:79785922..79787786,2	MCF-7	breast:
8	chr20:45985175..45987796-chr6:79786476..79788420,2	MCF-7	breast:
9	chr6:79785425..79789135-chr6:79942833..79950296,12	MCF-7	breast:
10	chr6:79785468..79790645-chr6:79941426..79946271,8	K562	blood:
11	chr15:66584739..66585732-chr6:79786578..79787569,2	Hela-S3	cervix:
12	chr6:79575800..79578597-chr6:79786334..79789260,2	MCF-7	breast:
13	chr6:79784764..79788097-chr6:80246158..80249987,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270362	Chromatin interaction
ENSG00000146243	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000135338	Chromatin interaction
ENSG00000261318	Chromatin interaction
ENSG00000118418	Chromatin interaction
ENSG00000143333	Chromatin interaction
ENSG00000166938	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1021988	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10943611	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11547228	0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12110918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283320	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1577794	0.80[AFR][1000 genomes]
rs1933238	1.00[ASW][hapmap];1.00[CEU][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];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1963080	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2089416	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2135768	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2135771	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2135772	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4327648	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55696019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56769571	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60527133	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62424927	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6454089	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66509445	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66537043	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66587298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67073459	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67143444	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67192540	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67221234	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67241845	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67354417	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67628258	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67763383	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67799776	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67815356	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67890480	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67903175	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68067309	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68099353	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72902902	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73464131	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73464167	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73466226	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73466238	0.86[ASN][1000 genomes]
rs73466274	0.80[AFR][1000 genomes]
rs7767182	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9341755	0.88[EUR][1000 genomes]
rs9343846	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9352673	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9352674	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9359355	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9359358	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9361468	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9968921	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
3	esv3345522	chr6:79786183-79788481	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3407655	chr6:79786258-79789006	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3812161	IRAK1BP1	cis	lymphoblastoid	seeQTL
rs3812161	IRAK1BP1	cis	Lymphoblastoid	GTEx
rs3812161	IRAK1BP1	cis	multi-tissue	Pritchard
rs3812161	IRAK1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79760600-79786800	Weak transcription	Spleen	Spleen
2	chr6:79783800-79790600	Active TSS	K562	blood
3	chr6:79784000-79789000	Active TSS	NHLF	lung
4	chr6:79784000-79789800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:79784000-79789800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr6:79784400-79789400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:79784400-79789600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:79784600-79789800	Active TSS	Fetal Brain Female	brain
9	chr6:79784800-79789400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:79784800-79789600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr6:79785000-79786800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:79785000-79787600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:79785000-79789200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr6:79785000-79789200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:79785000-79789400	Active TSS	A549	lung
16	chr6:79785000-79789600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:79785000-79789800	Active TSS	Right Atrium	heart
18	chr6:79785200-79789200	Active TSS	HMEC	breast
19	chr6:79785200-79789400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:79785200-79789600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:79785200-79789800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:79785200-79790000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:79785400-79786800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr6:79785400-79789200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:79785400-79789200	Active TSS	Aorta	Aorta
26	chr6:79785400-79789600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:79785400-79789600	Active TSS	Psoas Muscle	Psoas
28	chr6:79785400-79789800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:79785400-79789800	Active TSS	Right Ventricle	heart
30	chr6:79785400-79789800	Active TSS	Thymus	Thymus
31	chr6:79785600-79786800	Flanking Active TSS	Liver	Liver
32	chr6:79785600-79787600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:79785600-79787800	Weak transcription	Stomach Mucosa	stomach
34	chr6:79785600-79788800	Active TSS	Rectal Smooth Muscle	rectum
35	chr6:79785600-79789000	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr6:79785600-79789000	Active TSS	HSMM	muscle
37	chr6:79785600-79789000	Active TSS	HSMMtube	muscle
38	chr6:79785600-79789200	Active TSS	Primary T cells fromperipheralblood	blood
39	chr6:79785600-79789200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:79785600-79789200	Active TSS	Colonic Mucosa	Colon
41	chr6:79785600-79789200	Active TSS	Fetal Intestine Large	intestine
42	chr6:79785600-79789200	Active TSS	Stomach Smooth Muscle	stomach
43	chr6:79785600-79789400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:79785600-79789400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:79785600-79789400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:79785600-79789400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:79785600-79789400	Active TSS	Fetal Stomach	stomach
48	chr6:79785600-79789400	Active TSS	GM12878-XiMat	blood
49	chr6:79785600-79789400	Active TSS	Hela-S3	cervix
50	chr6:79785600-79789600	Active TSS	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links