Variant report

Variant	rs56322034
Chromosome Location	chr2:32353013-32353014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32349609..32353037-chr2:32390063..32392021,3	K562	blood:
2	chr2:32351514..32353019-chr2:32390044..32392430,2	MCF-7	breast:
3	chr2:32347290..32350052-chr2:32351484..32354177,3	K562	blood:
4	chr2:32347290..32350643-chr2:32351484..32354177,5	K562	blood:
5	chr2:32351379..32353037-chr2:32389504..32392021,2	K562	blood:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11691939	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12996943	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13006495	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13006880	0.83[EUR][1000 genomes]
rs13013695	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17011801	0.83[AFR][1000 genomes]
rs177082	0.87[EUR][1000 genomes]
rs186135	0.80[EUR][1000 genomes]
rs212682	0.86[EUR][1000 genomes]
rs212684	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs212689	0.87[EUR][1000 genomes]
rs212690	0.87[EUR][1000 genomes]
rs212691	0.87[EUR][1000 genomes]
rs212696	0.87[EUR][1000 genomes]
rs212710	0.82[EUR][1000 genomes]
rs212742	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs212747	0.81[EUR][1000 genomes]
rs212751	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs212754	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs212761	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2280968	0.81[AFR][1000 genomes]
rs2294178	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34197800	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34835885	0.83[EUR][1000 genomes]
rs35978916	0.87[EUR][1000 genomes]
rs375050	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769605	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs410469	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4530415	0.81[ASN][1000 genomes]
rs462878	0.87[EUR][1000 genomes]
rs4952207	0.84[ASN][1000 genomes]
rs6543648	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6756085	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs686005	0.80[EUR][1000 genomes]
rs7556942	0.83[AFR][1000 genomes]
rs7562653	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7574000	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7604289	0.80[AMR][1000 genomes]
rs805831	0.81[EUR][1000 genomes]
rs9789593	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv873779	chr2:32330885-32372245	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking 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 target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:32292600-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:32295800-32353800	Weak transcription	Fetal Brain Male	brain
4	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:32297600-32360600	Weak transcription	Osteobl	bone
6	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
7	chr2:32313200-32360600	Weak transcription	NH-A	brain
8	chr2:32316000-32353600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:32322200-32353400	Weak transcription	K562	blood
10	chr2:32325400-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:32331200-32370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:32331400-32368600	Weak transcription	Psoas Muscle	Psoas
13	chr2:32331400-32370000	Weak transcription	Right Ventricle	heart
14	chr2:32331600-32353600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:32331600-32353600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:32331600-32353800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:32331600-32353800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:32331600-32354400	Weak transcription	Colonic Mucosa	Colon
19	chr2:32331600-32354600	Weak transcription	Spleen	Spleen
20	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:32331600-32390200	Weak transcription	Gastric	stomach
22	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
23	chr2:32331800-32353400	Weak transcription	Fetal Kidney	kidney
24	chr2:32331800-32353600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:32331800-32360600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:32331800-32376400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:32332000-32353800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:32332200-32361400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:32332200-32362400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:32332800-32389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:32333000-32353400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:32333000-32358200	Weak transcription	A549	lung
33	chr2:32333000-32372400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:32333000-32389800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:32333200-32353400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:32336800-32356800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:32337200-32356800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:32340000-32354600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:32340000-32360800	Weak transcription	Hela-S3	cervix
40	chr2:32342000-32353600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:32342000-32354600	Weak transcription	Small Intestine	intestine
42	chr2:32342200-32372400	Weak transcription	Esophagus	oesophagus
43	chr2:32342200-32389800	Weak transcription	Aorta	Aorta
44	chr2:32343200-32354600	Weak transcription	Placenta	Placenta
45	chr2:32344200-32389600	Weak transcription	HMEC	breast
46	chr2:32344400-32353800	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:32344600-32353400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:32344800-32353400	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:32344800-32360600	Weak transcription	NHEK	skin
50	chr2:32344800-32368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links