Variant report

Variant	rs60255523
Chromosome Location	chr2:113508941-113508942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113508862..113511630-chr2:113521788..113524103,2	K562	blood:
2	chr2:113506687..113509305-chr2:113514115..113515715,2	K562	blood:
3	chr2:113508884..113510742-chr2:113519395..113521615,3	K562	blood:
4	chr2:113506583..113509292-chr2:113716187..113718342,2	K562	blood:
5	chr2:113507496..113509018-chr2:113517619..113519307,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17040306	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55712130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55900444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56152754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6542099	1.00[AMR][1000 genomes]
rs6744790	1.00[AMR][1000 genomes]
rs72952103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952128	0.90[AFR][1000 genomes]
rs73955242	1.00[AMR][1000 genomes]
rs7597191	1.00[AMR][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
4	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
8	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:113496800-113509800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:113498800-113513800	Weak transcription	Fetal Lung	lung
13	chr2:113499000-113511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:113499000-113511400	Weak transcription	Gastric	stomach
15	chr2:113499200-113509400	Weak transcription	Fetal Kidney	kidney
16	chr2:113499200-113512000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:113500000-113511400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:113500200-113511000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:113500400-113511400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:113502400-113509400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:113504200-113510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:113505400-113511400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:113505400-113511400	Weak transcription	Placenta	Placenta
25	chr2:113505600-113513400	Weak transcription	Hela-S3	cervix
26	chr2:113505800-113509600	Weak transcription	HSMM	muscle
27	chr2:113506200-113509000	Genic enhancers	HMEC	breast
28	chr2:113506400-113510200	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:113506400-113520200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:113507000-113511600	Genic enhancers	HepG2	liver
31	chr2:113507200-113520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:113507400-113509000	Enhancers	NHDF-Ad	bronchial
33	chr2:113507400-113511400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:113507400-113513000	Enhancers	Liver	Liver
35	chr2:113507400-113513800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:113507400-113519200	Strong transcription	K562	blood
37	chr2:113507400-113520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:113507600-113509000	Enhancers	Rectal Smooth Muscle	rectum
39	chr2:113507600-113510600	Enhancers	Osteobl	bone
40	chr2:113507600-113518200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:113507800-113509000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:113507800-113509200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:113507800-113509800	Strong transcription	HUVEC	blood vessel
44	chr2:113507800-113510000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:113507800-113512200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:113507800-113513600	Weak transcription	Fetal Brain Female	brain
47	chr2:113507800-113520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:113508000-113509200	Weak transcription	NH-A	brain
49	chr2:113508000-113511200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:113508000-113511400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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