Variant report

Variant	rs61296092
Chromosome Location	chr11:62320838-62320839
allele	C/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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62320231..62322469-chr11:62326560..62328980,3	MCF-7	breast:
2	chr11:62320232..62320996-chr15:59568484..59569178,2	Hela-S3	cervix:
3	chr11:62319433..62321594-chr11:62606734..62610357,4	K562	blood:
4	chr11:62193785..62196045-chr11:62320094..62322958,2	MCF-7	breast:
5	chr11:62319539..62321797-chr3:64007824..64010544,2	MCF-7	breast:
6	chr11:62319792..62321594-chr11:62606734..62609547,2	K562	blood:
7	chr11:62185139..62188235-chr11:62320185..62324044,3	MCF-7	breast:
8	chr11:62317168..62321180-chr11:62340667..62343114,3	K562	blood:
9	chr11:62146741..62149707-chr11:62320013..62321966,2	K562	blood:
10	chr11:62320664..62321295-chr3:196294953..196295579,2	Hela-S3	cervix:
11	chr11:62190284..62193281-chr11:62319104..62322471,3	K562	blood:
12	chr11:62319630..62322265-chr11:62553622..62556527,2	MCF-7	breast:
13	chr11:62318361..62321111-chr11:62622331..62624141,2	MCF-7	breast:
14	chr11:62320560..62321165-chr18:47900824..47901798,2	Hela-S3	cervix:
15	chr11:62159336..62161746-chr11:62320649..62322595,2	MCF-7	breast:
16	chr11:62190741..62193393-chr11:62320271..62322746,2	MCF-7	breast:
17	chr11:62319433..62322104-chr11:62322263..62325213,4	K562	blood:
18	chr11:62318888..62321035-chr11:62336105..62338398,2	K562	blood:
19	chr11:62318734..62321359-chr11:62445082..62448005,2	MCF-7	breast:
20	chr11:62319538..62321487-chr11:62357587..62361064,3	MCF-7	breast:
21	chr11:62319139..62322243-chr11:62431290..62434171,3	K562	blood:
22	chr11:62319868..62323918-chr11:62358207..62361173,3	K562	blood:
23	chr11:62319543..62321636-chr11:62358356..62360029,2	K562	blood:
24	chr11:62319259..62322012-chr11:62607721..62611941,5	MCF-7	breast:
25	chr11:62317359..62322036-chr11:62339489..62342782,7	MCF-7	breast:
26	chr11:62214321..62216205-chr11:62319757..62321536,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214756	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000149021	Chromatin interaction
ENSG00000185798	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000255446	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000162174	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000174013	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000255126	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000154839	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1061093	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231137	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11231138	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231141	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231144	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231145	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231150	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11231151	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11231152	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11231154	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11231155	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11231156	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11231161	0.85[EUR][1000 genomes]
rs11553576	0.82[EUR][1000 genomes]
rs12049914	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12223627	0.80[ASN][1000 genomes]
rs12225213	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12226821	0.80[ASN][1000 genomes]
rs12808829	0.84[EUR][1000 genomes]
rs17773169	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1801144	0.86[EUR][1000 genomes]
rs2428548	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2428549	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2428551	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2509961	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2509967	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2509982	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2512562	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2512563	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2516634	0.89[EUR][1000 genomes]
rs2849030	0.87[EUR][1000 genomes]
rs2849031	0.88[EUR][1000 genomes]
rs34065644	0.80[ASN][1000 genomes]
rs34894392	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35587183	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35880596	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58720921	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60098285	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7124057	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71490390	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71490392	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71490394	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72927213	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7928833	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930896	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7937146	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7942154	1.00[ASN][1000 genomes]
rs7942991	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7943191	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs61296092	EEF1G///LOC729998	N/A	lymphoblastoid	RTeQTL
rs61296092	EML3	cis	Whole Blood	GTEx
rs61296092	EEF1G	cis	multi-tissue	Pritchard
rs61296092	EML3	cis	Esophagus Mucosa	GTEx
rs61296092	ROM1	cis	Thyroid	GTEx
rs61296092	MTA2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62315400-62321200	Weak transcription	Gastric	stomach
2	chr11:62315400-62323600	Enhancers	Left Ventricle	heart
3	chr11:62316400-62325000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr11:62317200-62322400	Enhancers	GM12878-XiMat	blood
5	chr11:62317600-62321600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr11:62317600-62322800	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:62317800-62322800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:62318200-62323000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:62318200-62323400	Enhancers	Fetal Muscle Trunk	muscle
10	chr11:62318200-62324400	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:62318400-62322400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:62318400-62324400	Enhancers	Spleen	Spleen
13	chr11:62318400-62324600	Enhancers	Placenta	Placenta
14	chr11:62318400-62324800	Enhancers	Fetal Thymus	thymus
15	chr11:62318600-62324800	Enhancers	Pancreas	Pancrea
16	chr11:62318600-62325000	Enhancers	Fetal Heart	heart
17	chr11:62319000-62321000	Enhancers	Thymus	Thymus
18	chr11:62319000-62321400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr11:62319000-62321400	Enhancers	Brain Germinal Matrix	brain
20	chr11:62319000-62321400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr11:62319000-62321600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:62319000-62322000	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:62319000-62322000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr11:62319000-62322400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:62319000-62322400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:62319000-62323600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:62319000-62323600	Enhancers	Brain Hippocampus Middle	brain
28	chr11:62319000-62323600	Enhancers	Brain Substantia Nigra	brain
29	chr11:62319000-62324400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:62319000-62324400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:62319000-62325000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:62319000-62326600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr11:62319200-62321400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:62319200-62322400	Enhancers	Small Intestine	intestine
35	chr11:62319200-62322600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:62319200-62324600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:62319200-62324600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:62319200-62324600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr11:62319200-62326000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:62319600-62321200	Weak transcription	Ovary	ovary
41	chr11:62319600-62321600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:62319600-62322200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr11:62319600-62322200	Enhancers	Dnd41	blood
44	chr11:62319600-62322600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr11:62319800-62321200	Weak transcription	Lung	lung
46	chr11:62319800-62321200	Weak transcription	Psoas Muscle	Psoas
47	chr11:62319800-62322000	Enhancers	Fetal Brain Female	brain
48	chr11:62319800-62323400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:62320000-62321000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:62320000-62321000	Flanking Active TSS	HSMM	muscle

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