Variant report

Variant	rs2001132
Chromosome Location	chr1:172435992-172435993
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172435653..172437888-chr1:172440470..172444240,3	MCF-7	breast:
2	chr1:172426679..172428842-chr1:172434307..172436008,2	K562	blood:
3	chr1:172424577..172428179-chr1:172432936..172436008,3	K562	blood:
4	chr1:172435073..172439525-chr1:172499726..172502954,7	MCF-7	breast:
5	chr1:172420111..172423084-chr1:172435694..172439908,6	MCF-7	breast:
6	chr1:172423159..172425302-chr1:172434967..172437854,2	K562	blood:
7	chr1:172435764..172437831-chr1:172441142..172443070,2	K562	blood:
8	chr1:172427216..172431593-chr1:172433461..172437861,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction
ENSG00000180999	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1129942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17369123	0.85[CEU][hapmap]
rs2001130	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2018244	0.94[AMR][1000 genomes]
rs2213738	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2901655	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3948765	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4244193	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4244194	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4916187	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4916260	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4916261	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6659116	0.89[EUR][1000 genomes]
rs6660798	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6689291	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs739249	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7515895	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7518300	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522692	1.00[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7538417	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544376	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9425328	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425330	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425620	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172426000-172436000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:172430600-172436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:172434600-172436400	Enhancers	Fetal Muscle Leg	muscle
4	chr1:172434600-172436800	Enhancers	Pancreas	Pancrea
5	chr1:172434600-172437000	Enhancers	HSMMtube	muscle
6	chr1:172435000-172436000	Weak transcription	Psoas Muscle	Psoas
7	chr1:172435000-172437000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:172435200-172437000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:172435200-172437000	Enhancers	NHEK	skin
10	chr1:172435400-172436000	Enhancers	Fetal Heart	heart
11	chr1:172435400-172436400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:172435400-172436800	Enhancers	Fetal Intestine Small	intestine
13	chr1:172435400-172437000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:172435400-172437000	Enhancers	HMEC	breast
15	chr1:172435400-172439000	Enhancers	HepG2	liver
16	chr1:172435400-172439200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:172435600-172439200	Weak transcription	Left Ventricle	heart
18	chr1:172435800-172436000	Flanking Active TSS	A549	lung
19	chr1:172435800-172436200	Weak transcription	Right Atrium	heart
20	chr1:172435800-172441800	Weak transcription	K562	blood

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