Variant report

Variant	rs73177496
Chromosome Location	chr2:11829382-11829383
allele	A/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 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	chr2:11828369..11829399-chr2:11919036..11920400,7	MCF-7	breast:
5	chr2:11622770..11625345-chr2:11826653..11829595,2	MCF-7	breast:
6	chr2:11828699..11830318-chr2:11834371..11836055,2	K562	blood:
7	chr2:11827642..11829503-chr2:11889193..11891335,2	MCF-7	breast:
8	chr2:11827483..11829689-chr2:11917659..11919451,2	MCF-7	breast:
9	chr2:11828589..11830504-chr2:11831137..11833222,3	K562	blood:
10	chr2:11794181..11796094-chr2:11829058..11830881,2	K562	blood:
11	chr2:11617820..11619664-chr2:11828813..11830346,2	MCF-7	breast:
12	chr2:11827186..11829449-chr2:11917800..11920938,3	K562	blood:
13	chr2:11827992..11829682-chr2:11882728..11885708,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230790	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11890286	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28584687	0.89[ASN][1000 genomes]
rs55676775	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56858654	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57456819	1.00[ASN][1000 genomes]
rs58273936	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454451	0.90[ASN][1000 genomes]
rs59502453	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59838011	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61410870	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61430487	1.00[ASN][1000 genomes]
rs6432234	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67334974	0.89[ASN][1000 genomes]
rs6754255	0.82[EUR][1000 genomes]
rs73179361	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179363	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179396	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179398	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181372	0.90[EUR][1000 genomes]
rs73181378	0.82[EUR][1000 genomes]
rs7556803	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580386	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580501	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581186	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581192	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583977	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583991	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594198	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594406	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597552	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597790	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598255	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598525	1.00[ASN][1000 genomes]
rs7601181	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606137	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606378	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606724	0.90[EUR][1000 genomes];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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11827600-11829400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr2:11827800-11829400	Enhancers	Brain Substantia Nigra	brain
3	chr2:11827800-11829600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr2:11828000-11829400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:11828000-11829400	Enhancers	Fetal Muscle Leg	muscle
6	chr2:11828200-11829400	Enhancers	Primary B cells from cord blood	blood
7	chr2:11828600-11829400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:11828600-11829400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:11828600-11829400	Enhancers	Fetal Heart	heart
10	chr2:11828800-11829400	Enhancers	Ovary	ovary
11	chr2:11828800-11829400	Flanking Active TSS	Hela-S3	cervix
12	chr2:11828800-11829600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:11828800-11833400	Weak transcription	Colonic Mucosa	Colon
14	chr2:11828800-11833400	Weak transcription	Pancreas	Pancrea
15	chr2:11828800-11836800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:11829000-11829400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:11829000-11829400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:11829000-11829400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:11829000-11829400	Enhancers	Brain Anterior Caudate	brain
20	chr2:11829000-11829400	Enhancers	Colon Smooth Muscle	Colon
21	chr2:11829000-11829400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr2:11829000-11829400	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:11829000-11829400	Enhancers	Stomach Mucosa	stomach
24	chr2:11829000-11829400	Enhancers	Dnd41	blood
25	chr2:11829000-11829400	Bivalent Enhancer	HepG2	liver
26	chr2:11829000-11829400	Enhancers	HMEC	breast
27	chr2:11829000-11829400	Enhancers	HSMMtube	muscle
28	chr2:11829000-11829400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:11829000-11829400	Enhancers	NHLF	lung
30	chr2:11829000-11829600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:11829000-11833200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:11829000-11833200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:11829000-11833200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:11829000-11836600	Weak transcription	Fetal Thymus	thymus
35	chr2:11829000-11836600	Weak transcription	Right Atrium	heart
36	chr2:11829000-11836800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:11829200-11829400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:11829200-11829400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:11829200-11829400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:11829200-11829400	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:11829200-11829400	Enhancers	A549	lung
42	chr2:11829200-11829400	Enhancers	NHDF-Ad	bronchial
43	chr2:11829200-11829400	Enhancers	NHEK	skin
44	chr2:11829200-11829600	Enhancers	Adipose Nuclei	Adipose
45	chr2:11829200-11830200	Enhancers	Psoas Muscle	Psoas
46	chr2:11829200-11831000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:11829200-11831200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:11829200-11833000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:11829200-11833000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:11829200-11833000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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