Variant report

Variant	rs2252346
Chromosome Location	chr1:160994311-160994312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160963251..160966052-chr1:160993360..160995980,2	K562	blood:
2	chr1:160989659..160993154-chr1:160993491..160996992,5	K562	blood:
3	chr1:160989495..160995605-chr1:161004888..161010340,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215845	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000270149	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17175540	1.00[AMR][1000 genomes]
rs17181932	1.00[AMR][1000 genomes]
rs2247479	1.00[AMR][1000 genomes]
rs2247799	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247824	0.90[AFR][1000 genomes]
rs2481079	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2481082	0.88[AFR][1000 genomes]
rs2483146	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2779794	0.82[AFR][1000 genomes]
rs3007161	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3007162	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3124234	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160991200-160995200	Weak transcription	HSMM	muscle
2	chr1:160991200-161007800	Weak transcription	HSMMtube	muscle
3	chr1:160991600-161002400	Weak transcription	Ovary	ovary
4	chr1:160991600-161007000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:160991800-160997000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:160991800-161004600	Weak transcription	Primary B cells from cord blood	blood
7	chr1:160991800-161005200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:160991800-161007600	Weak transcription	Thymus	Thymus
9	chr1:160991800-161007800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:160992000-160995200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:160992000-161001600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:160992000-161002200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:160992000-161002200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:160992000-161004600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:160992000-161007000	Weak transcription	Fetal Intestine Small	intestine
16	chr1:160992200-161008000	Weak transcription	HUVEC	blood vessel
17	chr1:160992400-160995200	Weak transcription	K562	blood
18	chr1:160992400-161002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:160992600-160995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:160992600-160995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:160992800-160995000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:160992800-160996600	Weak transcription	A549	lung
23	chr1:160992800-161002200	Weak transcription	NHEK	skin

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