Variant report

Variant	rs60113783
Chromosome Location	chr2:54824251-54824252
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54823186..54826195-chr2:54832588..54835705,3	K562	blood:
2	chr2:54806062..54808345-chr2:54823269..54826209,2	MCF-7	breast:
3	chr2:54761267..54763626-chr2:54824184..54826863,2	K562	blood:
4	chr2:54815707..54819448-chr2:54820160..54824681,7	K562	blood:
5	chr2:54815000..54820095-chr2:54820709..54825309,10	K562	blood:
6	chr2:54822853..54825212-chr2:54825239..54827897,2	MCF-7	breast:
7	chr2:54822696..54824811-chr2:54826177..54828033,3	K562	blood:
8	chr2:54816128..54819257-chr2:54823273..54825897,3	MCF-7	breast:
9	chr2:54824089..54825634-chr2:54854001..54856179,2	MCF-7	breast:

No data

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1047465	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2229506	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2941592	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3796013	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4426562	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62134669	0.81[AMR][1000 genomes]
rs62134670	0.81[AMR][1000 genomes]
rs62134673	0.81[AMR][1000 genomes]
rs62134676	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62134679	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62134680	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62134681	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62134684	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62134700	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62134701	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62134705	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62134706	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62134707	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62134708	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs907136	0.84[AMR][1000 genomes];0.95[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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:54816200-54830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:54816600-54828400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:54817000-54825800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:54817000-54826200	Weak transcription	NHDF-Ad	bronchial
8	chr2:54817400-54825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:54817600-54825000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:54817600-54825600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:54817800-54825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:54817800-54826200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:54817800-54826200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:54818000-54824400	Weak transcription	HMEC	breast
15	chr2:54818000-54826200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:54820600-54824600	Weak transcription	Fetal Brain Male	brain
17	chr2:54820800-54826000	Weak transcription	Osteobl	bone
18	chr2:54820800-54826200	Weak transcription	Hela-S3	cervix
19	chr2:54821000-54824400	Weak transcription	NHEK	skin
20	chr2:54821200-54824800	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:54822200-54826200	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:54822200-54827800	Genic enhancers	Fetal Muscle Leg	muscle
23	chr2:54822200-54828800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:54822200-54833800	Genic enhancers	HepG2	liver
25	chr2:54822400-54825200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:54822400-54825600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:54822400-54825600	Enhancers	Brain Substantia Nigra	brain
28	chr2:54822400-54825600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:54822400-54825800	Enhancers	Pancreas	Pancrea
30	chr2:54822400-54826000	Enhancers	Right Ventricle	heart
31	chr2:54822400-54826400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:54822400-54827600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:54822400-54827800	Enhancers	Colon Smooth Muscle	Colon
34	chr2:54822400-54833600	Enhancers	Psoas Muscle	Psoas
35	chr2:54822400-54833800	Enhancers	Stomach Mucosa	stomach
36	chr2:54822400-54834000	Enhancers	Right Atrium	heart
37	chr2:54822600-54824800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:54822600-54825000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:54822600-54825000	Enhancers	Spleen	Spleen
40	chr2:54822600-54825200	Enhancers	Esophagus	oesophagus
41	chr2:54822600-54825200	Enhancers	Small Intestine	intestine
42	chr2:54822600-54825800	Enhancers	Brain Angular Gyrus	brain
43	chr2:54822600-54826000	Enhancers	Fetal Thymus	thymus
44	chr2:54822600-54826200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:54822600-54826600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:54822600-54827000	Enhancers	K562	blood
47	chr2:54822600-54827200	Enhancers	Brain Hippocampus Middle	brain
48	chr2:54822800-54825000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr2:54822800-54825200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:54822800-54825400	Flanking Active TSS	Primary T cells from cord blood	blood

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