Variant report

Variant	rs7128220
Chromosome Location	chr11:64917749-64917750
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
2	chr11:64898936..64904142-chr11:64915810..64928732,16	K562	blood:
3	chr11:64889739..64892306-chr11:64916863..64918935,2	K562	blood:
4	chr11:64916690..64920840-chr11:64937382..64942125,6	K562	blood:
5	chr11:64916288..64919866-chr11:64946254..64952518,7	MCF-7	breast:
6	chr11:64911788..64913983-chr11:64917112..64920304,4	MCF-7	breast:
7	chr11:64899295..64903630-chr11:64915332..64921315,16	MCF-7	breast:
8	chr11:64913947..64916896-chr11:64917113..64919116,2	MCF-7	breast:
9	chr11:64912189..64921319-chr11:64935429..64940801,16	K562	blood:
10	chr11:64913280..64915455-chr11:64916522..64918457,2	K562	blood:
11	chr11:64899644..64904758-chr11:64914742..64920010,11	K562	blood:
12	chr11:64917054..64918980-chr11:64934269..64937265,2	K562	blood:
13	chr11:64917276..64919080-chr11:64947521..64949119,2	K562	blood:
14	chr11:64916744..64919692-chr11:65271929..65274057,2	K562	blood:
15	chr11:64915613..64918344-chr11:64926782..64929403,3	K562	blood:
16	chr11:64884276..64886083-chr11:64916905..64919101,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255058	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000174276	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10895986	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227131	0.99[ASN][1000 genomes]
rs11227137	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17743381	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3825073	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55646096	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591177	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7124215	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72932851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription 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 miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS 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	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7128220	SPDYC	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64914200-64918200	Weak transcription	HepG2	liver
2	chr11:64916000-64918400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:64916000-64921000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr11:64916200-64918400	Enhancers	Primary hematopoietic stem cells	blood
5	chr11:64916200-64921000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:64916400-64918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:64916400-64920000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr11:64916800-64918000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr11:64916800-64918200	Enhancers	GM12878-XiMat	blood
10	chr11:64916800-64918400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:64916800-64919200	Enhancers	Fetal Muscle Leg	muscle
12	chr11:64917000-64918800	Enhancers	Fetal Muscle Trunk	muscle
13	chr11:64917200-64917800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:64917200-64918000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:64917200-64918000	Enhancers	K562	blood
16	chr11:64917200-64918200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:64917200-64918400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:64917200-64918800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:64917200-64918800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:64917200-64918800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:64917400-64917800	Enhancers	Placenta	Placenta
22	chr11:64917400-64918000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:64917400-64918000	Enhancers	A549	lung
24	chr11:64917400-64918000	Enhancers	Hela-S3	cervix
25	chr11:64917400-64918000	Enhancers	HMEC	breast
26	chr11:64917400-64918200	Enhancers	Fetal Stomach	stomach
27	chr11:64917400-64918200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:64917400-64918200	Enhancers	NH-A	brain
29	chr11:64917400-64918400	Enhancers	Duodenum Mucosa	Duodenum
30	chr11:64917400-64918400	Weak transcription	Right Ventricle	heart
31	chr11:64917400-64918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:64917400-64918800	Enhancers	Fetal Intestine Large	intestine
33	chr11:64917400-64918800	Enhancers	Fetal Intestine Small	intestine
34	chr11:64917400-64918800	Enhancers	Fetal Kidney	kidney
35	chr11:64917400-64918800	Enhancers	Pancreas	Pancrea
36	chr11:64917400-64918800	Enhancers	HSMM	muscle
37	chr11:64917400-64918800	Enhancers	HSMMtube	muscle
38	chr11:64917400-64918800	Enhancers	NHDF-Ad	bronchial
39	chr11:64917400-64918800	Enhancers	NHLF	lung
40	chr11:64917400-64919000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:64917400-64919000	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:64917400-64919000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr11:64917400-64919600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:64917400-64920000	Enhancers	Liver	Liver
45	chr11:64917600-64918000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:64917600-64918200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:64917600-64918200	Enhancers	Osteobl	bone
48	chr11:64917600-64918400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:64917600-64918400	Weak transcription	Esophagus	oesophagus
50	chr11:64917600-64919800	Enhancers	Brain Hippocampus Middle	brain

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