Variant report

Variant	rs10840230
Chromosome Location	chr11:9410490-9410491
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9408886..9410553-chr11:9412178..9413968,2	MCF-7	breast:
2	chr11:9403958..9411793-chr11:9477944..9485616,22	K562	blood:
3	chr11:9405325..9407700-chr11:9409632..9411900,2	MCF-7	breast:
4	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
5	chr11:9405514..9407674-chr11:9408995..9413287,4	MCF-7	breast:
6	chr11:9224063..9226510-chr11:9410318..9412693,2	K562	blood:
7	chr11:9410324..9411979-chr11:9415342..9417931,2	MCF-7	breast:
8	chr11:9334119..9338283-chr11:9409615..9419892,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254884	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000166471	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10770026	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10840227	0.87[ASN][1000 genomes]
rs10840229	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10840233	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042330	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042338	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042343	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042348	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11042349	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11608024	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12225755	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12418581	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12790938	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12797567	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12800802	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12801513	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12801924	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12804650	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177710	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910051	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910465	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7115477	0.95[ASN][1000 genomes]
rs7128033	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7480253	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7480643	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	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10840230	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407200-9425400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:9407200-9427000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9407200-9430400	Weak transcription	Spleen	Spleen
4	chr11:9407200-9430600	Weak transcription	Esophagus	oesophagus
5	chr11:9407200-9430600	Weak transcription	Pancreas	Pancrea
6	chr11:9407200-9430800	Weak transcription	Gastric	stomach
7	chr11:9407400-9410600	Weak transcription	Ovary	ovary
8	chr11:9407400-9414200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:9407400-9414200	Weak transcription	Thymus	Thymus
10	chr11:9407400-9427000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:9407400-9427000	Weak transcription	Left Ventricle	heart
12	chr11:9407600-9413400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:9407600-9431400	Weak transcription	HSMMtube	muscle
14	chr11:9407600-9442000	Weak transcription	Fetal Brain Male	brain
15	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:9407800-9412800	Weak transcription	Right Atrium	heart
17	chr11:9407800-9413400	Weak transcription	Fetal Intestine Large	intestine
18	chr11:9407800-9417000	Weak transcription	Placenta	Placenta
19	chr11:9407800-9417400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:9407800-9425400	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:9407800-9427000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:9408000-9411000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:9408000-9413400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:9408000-9419000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:9408000-9419200	Weak transcription	Fetal Lung	lung
26	chr11:9408000-9419800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:9408000-9424800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:9408200-9410800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:9408200-9418000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:9408200-9419600	Weak transcription	Primary B cells from cord blood	blood
31	chr11:9408200-9431000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:9408400-9413400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:9408400-9419000	Weak transcription	Brain Anterior Caudate	brain
34	chr11:9408400-9419200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:9408400-9428400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:9408600-9411200	Strong transcription	Fetal Thymus	thymus
37	chr11:9408600-9413600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:9408600-9419400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:9408800-9410800	Weak transcription	NH-A	brain
40	chr11:9408800-9413400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:9408800-9426400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:9408800-9427000	Weak transcription	Fetal Brain Female	brain
43	chr11:9408800-9431200	Weak transcription	Brain Substantia Nigra	brain
44	chr11:9409000-9411000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:9409000-9411000	Weak transcription	K562	blood
46	chr11:9409000-9411200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:9409000-9411400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:9409000-9412000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:9409000-9412400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:9409000-9413400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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