Variant report

Variant	rs10770040
Chromosome Location	chr11:9588893-9588894
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9586720..9588950-chr11:9633664..9636381,2	MCF-7	breast:
2	chr11:9571631..9575583-chr11:9586034..9589231,7	K562	blood:
3	chr11:9555259..9558705-chr11:9585485..9589925,6	MCF-7	breast:
4	chr11:9481046..9484761-chr11:9586134..9589089,3	K562	blood:
5	chr11:9571631..9575267-chr11:9586177..9589837,7	K562	blood:
6	chr11:9586513..9589428-chr11:9634913..9638092,4	K562	blood:
7	chr11:9482098..9486375-chr11:9587030..9591762,7	K562	blood:
8	chr11:9405249..9407250-chr11:9587699..9590338,2	K562	blood:
9	chr11:9383299..9385895-chr11:9587946..9590537,2	MCF-7	breast:
10	chr11:9586141..9589428-chr11:9634451..9638092,8	K562	blood:
11	chr11:9587790..9592116-chr11:9635065..9637852,3	MCF-7	breast:
12	chr11:9587725..9589821-chr11:9653382..9655563,2	K562	blood:
13	chr11:9555332..9556950-chr11:9587020..9589560,2	K562	blood:
14	chr11:9550967..9553187-chr11:9587161..9589570,2	K562	blood:
15	chr11:9548940..9552769-chr11:9586407..9589954,6	MCF-7	breast:
16	chr11:9586732..9588920-chr4:24377644..24379144,2	K562	blood:
17	chr11:9555032..9556832-chr11:9587944..9589560,2	K562	blood:
18	chr11:9480903..9485608-chr11:9587733..9592274,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000205339	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10840260	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10840261	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11042422	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1988828	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2313087	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4910479	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7108372	0.87[EUR][1000 genomes]
rs7109773	0.99[EUR][1000 genomes]
rs7113837	0.82[TSI][hapmap]
rs7115385	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7480266	0.85[EUR][1000 genomes]
rs7929469	0.88[AMR][1000 genomes];0.89[EUR][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	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10770040	CYB5R2	cis	parietal	SCAN
rs10770040	SNORA23	cis	lymphoblastoid	seeQTL
rs10770040	TRIM22	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9579000-9590200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr11:9583000-9590200	Weak transcription	Primary T cells from cord blood	blood
3	chr11:9584200-9594400	Enhancers	Stomach Mucosa	stomach
4	chr11:9584200-9594400	Weak transcription	Spleen	Spleen
5	chr11:9585000-9589600	Weak transcription	Primary B cells from cord blood	blood
6	chr11:9585200-9590800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:9585200-9593600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:9585200-9594400	Weak transcription	Esophagus	oesophagus
9	chr11:9585200-9594400	Weak transcription	Lung	lung
10	chr11:9586000-9591600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:9586200-9590400	Enhancers	Fetal Lung	lung
12	chr11:9586200-9590600	Enhancers	Hela-S3	cervix
13	chr11:9586200-9590600	Enhancers	NHLF	lung
14	chr11:9586400-9589800	Enhancers	HMEC	breast
15	chr11:9586400-9589800	Enhancers	Osteobl	bone
16	chr11:9586400-9590000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr11:9586400-9594200	Enhancers	Fetal Intestine Small	intestine
18	chr11:9586600-9589000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr11:9586600-9589000	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:9586600-9589000	Enhancers	HUVEC	blood vessel
21	chr11:9586600-9589800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:9586600-9589800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:9586600-9590000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:9586600-9590200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:9586600-9590200	Enhancers	NHDF-Ad	bronchial
26	chr11:9586600-9590800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:9586600-9590800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:9586600-9591800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:9586600-9594000	Enhancers	Placenta	Placenta
30	chr11:9586600-9594200	Enhancers	Fetal Intestine Large	intestine
31	chr11:9586800-9590800	Weak transcription	Right Atrium	heart
32	chr11:9586800-9591000	Weak transcription	Right Ventricle	heart
33	chr11:9587000-9590800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:9587200-9589000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:9587200-9589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:9587200-9589600	Enhancers	Liver	Liver
37	chr11:9587400-9589000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:9587400-9589200	Enhancers	Fetal Stomach	stomach
39	chr11:9587600-9589600	Enhancers	NHEK	skin
40	chr11:9587800-9590200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:9588000-9589200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr11:9588000-9589200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:9588000-9589600	Weak transcription	Pancreas	Pancrea
44	chr11:9588000-9589800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:9588000-9590200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:9588000-9590800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:9588000-9590800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:9588000-9590800	Weak transcription	Left Ventricle	heart
49	chr11:9588000-9591000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
50	chr11:9588000-9594400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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