Variant report

Variant	rs59431265
Chromosome Location	chr11:66361703-66361704
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66358389..66364594-chr11:66381544..66387255,17	MCF-7	breast:
2	chr11:66358904..66365230-chr11:66381918..66386995,13	MCF-7	breast:
3	chr11:66358667..66365231-chr11:66403397..66409781,9	K562	blood:
4	chr11:66246639..66249369-chr11:66359117..66362318,3	K562	blood:
5	chr11:66360734..66364580-chr11:66368011..66371374,4	K562	blood:
6	chr11:66361162..66363197-chr11:66365245..66367586,3	K562	blood:
7	chr11:66361065..66362739-chr11:66406248..66408531,2	MCF-7	breast:
8	chr11:66360820..66362451-chr11:66399115..66401694,2	K562	blood:
9	chr11:66358156..66362242-chr11:66381316..66386003,12	K562	blood:
10	chr11:66358590..66362001-chr11:66403964..66407353,7	K562	blood:
11	chr11:66358617..66363403-chr11:66366526..66370072,6	MCF-7	breast:
12	chr11:66358981..66362373-chr11:66404226..66407674,4	MCF-7	breast:
13	chr11:66359034..66362205-chr11:66443812..66446064,4	K562	blood:
14	chr11:66356377..66365681-chr11:66380910..66388291,23	K562	blood:
15	chr11:66358934..66362689-chr11:66443837..66446822,4	MCF-7	breast:
16	chr11:66358890..66361865-chr11:66443170..66446382,5	MCF-7	breast:
17	chr11:66359100..66362030-chr11:66410547..66413461,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173914	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000173992	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000254986	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10896128	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1127145	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11550057	0.81[EUR][1000 genomes]
rs15969	0.81[EUR][1000 genomes]
rs2229455	0.80[EUR][1000 genomes]
rs2229456	0.82[EUR][1000 genomes]
rs2275998	0.80[EUR][1000 genomes]
rs3802743	1.00[ASN][1000 genomes]
rs3867132	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57127845	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57466874	1.00[ASN][1000 genomes]
rs59320108	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59550560	1.00[ASN][1000 genomes]
rs59566349	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59431265	CCS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66359800-66363400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:66361200-66361800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:66361200-66361800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:66361200-66362000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:66361200-66362800	Weak transcription	Aorta	Aorta
6	chr11:66361200-66363400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr11:66361200-66363400	Enhancers	Spleen	Spleen
8	chr11:66361200-66363600	Enhancers	Esophagus	oesophagus
9	chr11:66361200-66363600	Enhancers	Fetal Heart	heart
10	chr11:66361200-66366600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:66361400-66361800	Enhancers	Fetal Intestine Small	intestine
12	chr11:66361400-66361800	Enhancers	Right Atrium	heart
13	chr11:66361400-66362000	Weak transcription	Ovary	ovary
14	chr11:66361400-66362200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:66361400-66362200	Enhancers	Fetal Muscle Trunk	muscle
16	chr11:66361400-66362200	Enhancers	Stomach Mucosa	stomach
17	chr11:66361400-66362400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:66361400-66362400	Enhancers	Fetal Intestine Large	intestine
19	chr11:66361400-66362400	Weak transcription	NH-A	brain
20	chr11:66361400-66362600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr11:66361400-66362600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:66361400-66362600	Enhancers	Thymus	Thymus
23	chr11:66361400-66362800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr11:66361400-66362800	Weak transcription	Small Intestine	intestine
25	chr11:66361400-66363000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr11:66361400-66363200	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:66361400-66363200	Enhancers	Fetal Muscle Leg	muscle
28	chr11:66361400-66363200	Enhancers	Lung	lung
29	chr11:66361400-66363400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr11:66361400-66363400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:66361400-66363400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:66361400-66363400	Enhancers	Fetal Brain Male	brain
33	chr11:66361400-66363600	Enhancers	Primary T cells fromperipheralblood	blood
34	chr11:66361400-66363600	Enhancers	Primary hematopoietic stem cells	blood
35	chr11:66361400-66363600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:66361400-66363600	Enhancers	Brain Germinal Matrix	brain
37	chr11:66361400-66363600	Enhancers	Pancreas	Pancrea
38	chr11:66361400-66363800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:66361400-66363800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:66361400-66363800	Enhancers	Fetal Thymus	thymus
41	chr11:66361400-66364400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:66361400-66364400	Enhancers	Placenta	Placenta
43	chr11:66361400-66366200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:66361400-66366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:66361400-66366200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:66361400-66366400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:66361400-66366600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:66361400-66366800	Weak transcription	HSMMtube	muscle
49	chr11:66361400-66367000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:66361400-66369600	Weak transcription	HMEC	breast

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