Variant report

Variant	rs830083
Chromosome Location	chr11:47254051-47254052
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47253032..47256310-chr11:47277648..47280941,3	MCF-7	breast:
2	chr11:47252711..47255857-chr11:47290010..47293384,5	MCF-7	breast:
3	chr11:47234544..47240299-chr11:47253173..47262641,20	MCF-7	breast:
4	chr11:47253884..47256462-chr11:47268620..47272796,4	K562	blood:
5	chr11:47235195..47238738-chr11:47253063..47257096,4	K562	blood:
6	chr11:47245041..47247792-chr11:47251333..47254265,2	K562	blood:
7	chr11:47253350..47256104-chr11:47295633..47299612,4	MCF-7	breast:
8	chr11:47235195..47238586-chr11:47253063..47256921,3	K562	blood:
9	chr11:47234472..47239547-chr11:47250342..47254554,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000025434	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10838681	0.81[AFR][1000 genomes]
rs11039144	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039148	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039155	0.84[EUR][1000 genomes]
rs12574081	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16938581	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242261	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242262	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279238	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306353	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2596397	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2596398	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2633080	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633083	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957873	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs326224	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758670	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3781619	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781620	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3824866	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647725	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4647726	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647737	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647741	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647754	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4647757	0.92[AMR][1000 genomes]
rs4752972	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752973	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7118396	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7120158	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7395496	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7933246	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7947269	0.80[AMR][1000 genomes]
rs830084	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs830083	DDB2	Cis_1M	lymphoblastoid	RTeQTL
rs830083	ACP2	cis	Thyroid	GTEx
rs830083	ACP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47255800	Weak transcription	Brain Anterior Caudate	brain
2	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47238600-47254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:47238600-47255400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:47238600-47255400	Weak transcription	Right Ventricle	heart
6	chr11:47238600-47255600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:47238600-47255800	Weak transcription	Brain Substantia Nigra	brain
8	chr11:47238600-47255800	Weak transcription	Right Atrium	heart
9	chr11:47238600-47256000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:47238600-47259600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:47238600-47261000	Weak transcription	Small Intestine	intestine
12	chr11:47239400-47255000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:47239800-47254200	Weak transcription	Lung	lung
14	chr11:47239800-47255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:47239800-47255600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:47240000-47260200	Weak transcription	Fetal Brain Female	brain
17	chr11:47240200-47254200	Weak transcription	Esophagus	oesophagus
18	chr11:47240200-47254200	Weak transcription	Stomach Mucosa	stomach
19	chr11:47240200-47254600	Weak transcription	Pancreas	Pancrea
20	chr11:47240200-47255400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:47240200-47255600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:47240200-47255800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:47240200-47256000	Weak transcription	Gastric	stomach
24	chr11:47240200-47266600	Weak transcription	Fetal Brain Male	brain
25	chr11:47240400-47255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:47241400-47255600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:47241800-47254400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:47241800-47256000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:47242000-47255800	Weak transcription	Left Ventricle	heart
30	chr11:47242200-47255400	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:47242200-47258200	Weak transcription	Fetal Lung	lung
32	chr11:47242400-47254200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:47242400-47256000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:47242400-47257800	Weak transcription	K562	blood
35	chr11:47242400-47258000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:47242400-47258000	Weak transcription	Primary B cells from cord blood	blood
37	chr11:47242400-47269200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:47242600-47259600	Weak transcription	Brain Germinal Matrix	brain
39	chr11:47242600-47260200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:47242800-47254200	Weak transcription	NHLF	lung
41	chr11:47242800-47255200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:47243000-47255600	Weak transcription	Fetal Heart	heart
43	chr11:47243600-47269200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:47244400-47255400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:47244600-47254400	Weak transcription	Liver	Liver
46	chr11:47245400-47255400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:47246200-47255400	Weak transcription	HSMM	muscle
48	chr11:47246200-47256600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:47246400-47255000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:47246400-47256800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links