Variant report

Variant	rs11676175
Chromosome Location	chr2:11828210-11828211
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11827540..11829449-chr2:11917800..11919744,2	K562	blood:
2	chr2:11683416..11684960-chr2:11826998..11829843,2	MCF-7	breast:
3	chr2:11827607..11830089-chr2:11831192..11833222,2	K562	blood:
4	chr2:11634107..11636070-chr2:11826833..11828580,2	MCF-7	breast:
5	chr2:11622770..11625345-chr2:11826653..11829595,2	MCF-7	breast:
6	chr2:11827642..11829503-chr2:11889193..11891335,2	MCF-7	breast:
7	chr2:11827483..11829689-chr2:11917659..11919451,2	MCF-7	breast:
8	chr2:11827186..11829449-chr2:11917800..11920938,3	K562	blood:
9	chr2:11828002..11829194-chr2:11918509..11920102,11	K562	blood:
10	chr2:11826228..11828795-chr2:11831285..11833556,4	MCF-7	breast:
11	chr2:11821199..11824708-chr2:11826185..11828507,3	K562	blood:
12	chr2:11827992..11829682-chr2:11882728..11885708,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230790	Chromatin interaction
ENSG00000228496	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1036393	1.00[ASN][1000 genomes]
rs11538448	1.00[ASN][1000 genomes]
rs11675463	1.00[ASN][1000 genomes]
rs11677240	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11683719	1.00[ASN][1000 genomes]
rs11693935	1.00[AFR][1000 genomes]
rs11890442	1.00[ASN][1000 genomes]
rs11892871	1.00[ASN][1000 genomes]
rs11894146	1.00[ASN][1000 genomes]
rs11894751	1.00[ASN][1000 genomes]
rs13421972	1.00[ASN][1000 genomes]
rs1561010	1.00[ASN][1000 genomes]
rs1561011	1.00[ASN][1000 genomes]
rs16857679	1.00[ASN][1000 genomes]
rs34592059	1.00[ASN][1000 genomes]
rs34928762	1.00[ASN][1000 genomes]
rs45509591	1.00[ASN][1000 genomes]
rs55890755	1.00[ASN][1000 genomes]
rs56788115	1.00[ASN][1000 genomes]
rs57097271	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59085046	1.00[ASN][1000 genomes]
rs59208217	1.00[ASN][1000 genomes]
rs59408163	1.00[ASN][1000 genomes]
rs60662456	1.00[ASN][1000 genomes]
rs61239977	1.00[ASN][1000 genomes]
rs62113260	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113263	1.00[ASN][1000 genomes]
rs62113264	1.00[ASN][1000 genomes]
rs62113265	1.00[ASN][1000 genomes]
rs62113266	1.00[ASN][1000 genomes]
rs62113267	1.00[ASN][1000 genomes]
rs62113293	1.00[ASN][1000 genomes]
rs62113296	1.00[ASN][1000 genomes]
rs62113297	1.00[ASN][1000 genomes]
rs62113298	1.00[ASN][1000 genomes]
rs62113299	1.00[ASN][1000 genomes]
rs62113300	1.00[ASN][1000 genomes]
rs62113302	1.00[ASN][1000 genomes]
rs62113303	1.00[ASN][1000 genomes]
rs62113305	1.00[ASN][1000 genomes]
rs62113307	1.00[ASN][1000 genomes]
rs62113308	1.00[ASN][1000 genomes]
rs62113309	1.00[ASN][1000 genomes]
rs62113310	1.00[ASN][1000 genomes]
rs62113313	1.00[ASN][1000 genomes]
rs62113354	1.00[ASN][1000 genomes]
rs62113357	1.00[ASN][1000 genomes]
rs62114961	1.00[ASN][1000 genomes]
rs62114962	1.00[ASN][1000 genomes]
rs62114963	1.00[ASN][1000 genomes]
rs62114964	1.00[ASN][1000 genomes]
rs62114967	1.00[ASN][1000 genomes]
rs62114968	1.00[ASN][1000 genomes]
rs62114969	1.00[AFR][1000 genomes]
rs62116185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116208	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116209	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116212	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6707885	1.00[ASN][1000 genomes]
rs6716999	1.00[ASN][1000 genomes]
rs6717771	1.00[ASN][1000 genomes]
rs6726960	1.00[ASN][1000 genomes]
rs6744695	1.00[ASN][1000 genomes]
rs6744803	1.00[ASN][1000 genomes]
rs71446421	1.00[ASN][1000 genomes]
rs72773987	1.00[ASN][1000 genomes]
rs72773997	1.00[ASN][1000 genomes]
rs72773999	1.00[ASN][1000 genomes]
rs72774000	1.00[ASN][1000 genomes]
rs7566112	1.00[ASN][1000 genomes]
rs7566488	1.00[ASN][1000 genomes]
rs7569901	1.00[ASN][1000 genomes]
rs7570139	1.00[ASN][1000 genomes]
rs7575000	1.00[ASN][1000 genomes]
rs7593837	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv527025	chr2:11823585-11833459	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11818400-11828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:11818400-11828400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:11827600-11828400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:11827600-11829400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr2:11827800-11828400	Enhancers	Adipose Nuclei	Adipose
6	chr2:11827800-11828400	Enhancers	Brain Hippocampus Middle	brain
7	chr2:11827800-11828400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:11827800-11828400	Enhancers	Colon Smooth Muscle	Colon
9	chr2:11827800-11828400	Enhancers	Fetal Heart	heart
10	chr2:11827800-11828400	Enhancers	Left Ventricle	heart
11	chr2:11827800-11828400	Enhancers	Ovary	ovary
12	chr2:11827800-11828400	Enhancers	Right Ventricle	heart
13	chr2:11827800-11828400	Flanking Active TSS	Hela-S3	cervix
14	chr2:11827800-11828400	Enhancers	HMEC	breast
15	chr2:11827800-11828400	Enhancers	HSMMtube	muscle
16	chr2:11827800-11828800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:11827800-11828800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:11827800-11829000	Enhancers	Brain Angular Gyrus	brain
19	chr2:11827800-11829000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr2:11827800-11829200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:11827800-11829200	Enhancers	Placenta	Placenta
22	chr2:11827800-11829400	Enhancers	Brain Substantia Nigra	brain
23	chr2:11827800-11829600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr2:11828000-11828400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:11828000-11828400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:11828000-11828400	Enhancers	Duodenum Mucosa	Duodenum
27	chr2:11828000-11828400	Enhancers	NHDF-Ad	bronchial
28	chr2:11828000-11828400	Bivalent Enhancer	NHEK	skin
29	chr2:11828000-11828600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:11828000-11828600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:11828000-11828600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:11828000-11829000	Flanking Active TSS	Dnd41	blood
33	chr2:11828000-11829200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:11828000-11829200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:11828000-11829200	Enhancers	Liver	Liver
36	chr2:11828000-11829400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:11828000-11829400	Enhancers	Fetal Muscle Leg	muscle
38	chr2:11828200-11828400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:11828200-11828400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
40	chr2:11828200-11828400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr2:11828200-11828400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:11828200-11828400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr2:11828200-11828400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:11828200-11828400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr2:11828200-11828400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:11828200-11828400	Enhancers	Brain Anterior Caudate	brain
47	chr2:11828200-11828400	Active TSS	Rectal Smooth Muscle	rectum
48	chr2:11828200-11828400	Enhancers	Right Atrium	heart
49	chr2:11828200-11828400	Enhancers	A549	lung
50	chr2:11828200-11828400	Active TSS	HUVEC	blood vessel

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