Variant report

Variant	rs10770060
Chromosome Location	chr11:9784059-9784060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:9783966-9784209	HepG2	liver:	n/a	chr11:9784105-9784120

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9683816..9686109-chr11:9781623..9784319,2	MCF-7	breast:
2	chr11:9783060..9784913-chr11:9787043..9789186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245522	TF binding region
ENSG00000133789	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1032550	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770064	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10770065	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840305	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840306	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042493	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12788348	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1875029	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1875030	0.92[EUR][1000 genomes]
rs1983002	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1996794	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34328537	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34690050	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35401279	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs360147	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3751000	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs429835	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs440377	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4910063	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7126913	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7934930	0.87[ASN][1000 genomes]
rs7935673	0.88[ASN][1000 genomes]
rs960909	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10770060	SWAP70	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9780200-9786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9780600-9813200	Weak transcription	Small Intestine	intestine
3	chr11:9780800-9786600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:9780800-9788600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:9780800-9788600	Enhancers	Fetal Heart	heart
6	chr11:9780800-9794200	Enhancers	Fetal Muscle Leg	muscle
7	chr11:9781000-9784400	Enhancers	NHLF	lung
8	chr11:9781000-9786800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:9781200-9789400	Enhancers	Placenta	Placenta
10	chr11:9781400-9786600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:9781400-9795200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:9781400-9800800	Weak transcription	Fetal Brain Female	brain
13	chr11:9781600-9785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:9781600-9786400	Weak transcription	Fetal Kidney	kidney
15	chr11:9781600-9786600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:9781600-9786800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:9781600-9798200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:9781600-9801000	Weak transcription	Primary T cells from cord blood	blood
19	chr11:9781600-9809000	Weak transcription	Fetal Brain Male	brain
20	chr11:9781800-9786000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:9781800-9786600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:9781800-9786600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:9781800-9790800	Enhancers	NHDF-Ad	bronchial
24	chr11:9781800-9799200	Weak transcription	Primary B cells from cord blood	blood
25	chr11:9781800-9799200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:9781800-9801200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:9781800-9801600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr11:9782000-9785400	Weak transcription	Psoas Muscle	Psoas
29	chr11:9782000-9798000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:9782200-9784200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:9782200-9784400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:9782200-9785400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:9782200-9785600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:9782200-9786000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:9782200-9786200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:9782200-9786600	Weak transcription	Fetal Intestine Large	intestine
37	chr11:9782200-9786600	Weak transcription	GM12878-XiMat	blood
38	chr11:9782200-9786800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:9782200-9786800	Weak transcription	Pancreas	Pancrea
40	chr11:9782200-9787000	Weak transcription	Lung	lung
41	chr11:9782200-9787000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr11:9782200-9787800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:9782200-9796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:9782400-9786200	Weak transcription	HUVEC	blood vessel
45	chr11:9782400-9786600	Weak transcription	Fetal Intestine Small	intestine
46	chr11:9782400-9786600	Weak transcription	Hela-S3	cervix
47	chr11:9782400-9787000	Weak transcription	Colonic Mucosa	Colon
48	chr11:9782400-9791600	Weak transcription	A549	lung
49	chr11:9782400-9799400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:9782600-9784200	Weak transcription	Muscle Satellite Cultured Cells	--

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