Variant report

Variant	rs2150038
Chromosome Location	chr1:10609973-10609974
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10589627..10591241-chr1:10607715..10610040,2	K562	blood:
2	chr1:10599611..10603439-chr1:10608820..10611916,3	K562	blood:
3	chr1:10608473..10610056-chr1:10690153..10691726,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11121587	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12028449	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12375	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1411402	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17035305	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2026792	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2056417	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2480777	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2480782	0.82[ASN][1000 genomes]
rs2480785	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2483677	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2506880	0.88[EUR][1000 genomes]
rs2506889	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2506892	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2506896	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2847344	0.86[EUR][1000 genomes]
rs34575776	0.98[EUR][1000 genomes]
rs4846235	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs616402	0.89[EUR][1000 genomes]
rs617728	0.89[EUR][1000 genomes]
rs67488812	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9430149	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv545395	chr1:10584672-10613660	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10579400-10610200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
3	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
4	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:10591600-10616000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:10592200-10615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:10598600-10621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:10599800-10610000	Weak transcription	Stomach Mucosa	stomach
9	chr1:10600000-10615600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:10600000-10615800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:10600000-10619600	Weak transcription	Brain Substantia Nigra	brain
12	chr1:10600200-10614800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:10600200-10615800	Weak transcription	HSMM	muscle
14	chr1:10601000-10613000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:10601200-10613400	Weak transcription	Osteobl	bone
16	chr1:10601200-10619600	Weak transcription	Brain Anterior Caudate	brain
17	chr1:10601400-10610400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:10601400-10611000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:10601400-10611000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:10601400-10615600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:10601800-10610000	Weak transcription	Fetal Lung	lung
22	chr1:10601800-10610000	Weak transcription	A549	lung
23	chr1:10601800-10610000	Weak transcription	HUVEC	blood vessel
24	chr1:10601800-10613200	Weak transcription	K562	blood
25	chr1:10601800-10613400	Weak transcription	Right Ventricle	heart
26	chr1:10602000-10610000	Weak transcription	Gastric	stomach
27	chr1:10602000-10610200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:10602000-10610200	Weak transcription	HepG2	liver
29	chr1:10602000-10610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:10602000-10610800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:10602000-10610800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:10602000-10611400	Weak transcription	Ovary	ovary
33	chr1:10602000-10612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:10602000-10612800	Weak transcription	Fetal Thymus	thymus
35	chr1:10602000-10613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:10602000-10613200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:10602000-10615600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:10602000-10615600	Weak transcription	HMEC	breast
39	chr1:10602000-10616200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:10602000-10619400	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:10602000-10639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:10602200-10615600	Weak transcription	Placenta	Placenta
43	chr1:10602200-10615600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:10602400-10610400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:10602400-10613000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:10602400-10613200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:10602400-10613200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:10602400-10613600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:10602400-10615600	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:10602400-10616000	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links