Variant report

Variant	rs7116965
Chromosome Location	chr11:46260696-46260697
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:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
2	chr11:46257250..46262210-chr11:46367431..46371476,7	K562	blood:
3	chr11:46260567..46262219-chr11:46367373..46369497,2	MCF-7	breast:
4	chr11:46259959..46260814-chr19:2475741..2476377,2	Hela-S3	cervix:
5	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
6	chr11:46260302..46262662-chr11:46340066..46342667,3	K562	blood:
7	chr11:46259014..46262894-chr11:46335326..46342667,9	K562	blood:
8	chr11:46260695..46261314-chr11:46329870..46330375,2	MCF-7	breast:
9	chr11:46260084..46261825-chr11:46306467..46308194,2	K562	blood:
10	chr11:46140775..46145022-chr11:46256711..46262008,9	MCF-7	breast:
11	chr11:45939300..45941780-chr11:46259462..46260979,2	K562	blood:
12	chr11:46257955..46261525-chr11:46335370..46339844,7	K562	blood:
13	chr11:46257393..46260804-chr11:46327051..46334652,10	K562	blood:
14	chr11:46148570..46149540-chr11:46260403..46260958,3	MCF-7	breast:
15	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:
16	chr11:46260392..46261346-chr11:46336358..46337814,7	K562	blood:
17	chr11:46260404..46262325-chr11:46311878..46313635,2	K562	blood:
18	chr11:46259601..46262600-chr11:46396117..46399053,2	K562	blood:
19	chr11:46134047..46136241-chr11:46260486..46262310,2	K562	blood:
20	chr11:46258591..46262908-chr11:46327982..46333180,8	K562	blood:
21	chr11:46198785..46200678-chr11:46260569..46262426,2	K562	blood:
22	chr11:46260057..46260933-chr11:65272315..65273199,2	Hela-S3	cervix:
23	chr11:46260418..46261307-chr11:46318503..46319170,4	K562	blood:
24	chr11:46258381..46272821-chr11:46315090..46322037,29	K562	blood:
25	chr11:46260020..46262918-chr11:46267524..46269406,4	MCF-7	breast:
26	chr11:46136566..46145134-chr11:46256772..46268048,26	K562	blood:
27	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
28	chr11:46239861..46241772-chr11:46260396..46261899,2	K562	blood:
29	chr11:46260034..46261360-chr11:46336245..46337600,10	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CREB3L1-1	chr11:46260290-46260818	ENSG00000254639

No data

Variant related genes	Relation type
ENSG00000121680	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000263539	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000157613	Chromatin interaction
ENSG00000099860	Chromatin interaction
ENSG00000254653	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11038827	0.96[AFR][1000 genomes]
rs11605191	1.00[ASN][1000 genomes]
rs28755875	1.00[ASN][1000 genomes]
rs35671387	1.00[ASN][1000 genomes]
rs58301639	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58678374	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104451	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113170	0.96[ASN][1000 genomes]
rs72908086	0.82[ASN][1000 genomes]
rs72908089	0.86[ASN][1000 genomes]
rs72908091	0.86[ASN][1000 genomes]
rs72908092	0.86[ASN][1000 genomes]
rs72908096	0.86[ASN][1000 genomes]
rs72908098	0.86[ASN][1000 genomes]
rs72908102	0.86[ASN][1000 genomes]
rs72910006	0.96[ASN][1000 genomes]
rs72910027	0.82[ASN][1000 genomes]
rs7926726	1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[ASN][1000 genomes]
rs7931075	1.00[ASN][1000 genomes]
rs7943808	0.86[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	nsv1051344	chr11:46188818-46306447	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv541028	chr11:46188818-46306447	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv308	chr11:46242287-46287542	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46258200-46261200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:46258400-46261400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:46258600-46261200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr11:46258600-46261800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:46258800-46260800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
6	chr11:46258800-46260800	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr11:46258800-46261000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:46258800-46261200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:46259000-46260800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
10	chr11:46259000-46260800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:46259000-46260800	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr11:46259000-46261000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:46259200-46260800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:46259200-46260800	Active TSS	Aorta	Aorta
15	chr11:46259200-46261200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:46259200-46261200	Bivalent Enhancer	Fetal Thymus	thymus
17	chr11:46259200-46261200	Flanking Active TSS	HMEC	breast
18	chr11:46259400-46260800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
19	chr11:46259400-46260800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr11:46259800-46260800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:46259800-46260800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr11:46259800-46260800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:46259800-46261000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr11:46259800-46261200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr11:46259800-46261400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr11:46260000-46260800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:46260000-46260800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr11:46260000-46260800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr11:46260000-46260800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
32	chr11:46260000-46260800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
35	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr11:46260000-46260800	Enhancers	Gastric	stomach
40	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
41	chr11:46260000-46260800	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr11:46260000-46260800	Flanking Active TSS	HUVEC	blood vessel
43	chr11:46260000-46261200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:46260000-46261200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:46260000-46261200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:46260000-46261200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr11:46260000-46261600	Flanking Active TSS	Hela-S3	cervix
48	chr11:46260000-46261600	Flanking Active TSS	NH-A	brain
49	chr11:46260200-46260800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:46260200-46260800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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