Variant report

Variant	rs2290350
Chromosome Location	chr10:4881823-4881824
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:4878716-4883689	K562	blood:	n/a	n/a
2	CTCF	chr10:4881820-4881970	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr10:4881680-4881830	HCT-116	colon:	n/a	chr10:4881742-4881750
4	CTCF	chr10:4881680-4881830	Hela-S3	cervix:	n/a	chr10:4881742-4881750
5	POLR2A	chr10:4881725-4881996	K562	blood:	n/a	n/a
6	SMC3	chr10:4881640-4881871	K562	blood:	n/a	chr10:4881737-4881751
7	CTCF	chr10:4881654-4881846	MCF-7	breast:	n/a	chr10:4881742-4881750
8	CTCF	chr10:4881494-4881898	MCF-7	breast:	n/a	chr10:4881742-4881750
9	CTCF	chr10:4881720-4881870	MCF-7	breast:	n/a	chr10:4881742-4881750
10	SMC3	chr10:4881691-4881888	HepG2	liver:	n/a	chr10:4881737-4881751
11	CTCF	chr10:4881500-4881992	MCF-7	breast:	n/a	chr10:4881742-4881750
12	CTCF	chr10:4881636-4881857	MCF-7	breast:	n/a	chr10:4881742-4881750
13	CTCF	chr10:4881680-4881830	AG09319	gingival:	n/a	chr10:4881742-4881750
14	CTCF	chr10:4881519-4881956	HCT-116	colon:	n/a	chr10:4881742-4881750
15	SMC3	chr10:4881660-4881906	Hela-S3	cervix:	n/a	chr10:4881737-4881751
16	CTCF	chr10:4881720-4881870	HBMEC	blood vessel:	n/a	chr10:4881742-4881750
17	CTCF	chr10:4881649-4881843	MCF-7	breast:	n/a	chr10:4881742-4881750
18	CTCF	chr10:4881700-4881850	Caco-2	colon:	n/a	chr10:4881742-4881750
19	CTCF	chr10:4881586-4881832	A549	lung:	n/a	chr10:4881742-4881750
20	RAD21	chr10:4881630-4881885	HepG2	liver:	n/a	chr10:4881742-4881751
21	CTCF	chr10:4881680-4881830	HMEC	breast:	n/a	chr10:4881742-4881750
22	CTCF	chr10:4881700-4881850	HepG2	liver:	n/a	chr10:4881742-4881750
23	CTCF	chr10:4881680-4881830	Caco-2	colon:	n/a	chr10:4881742-4881750
24	CTCF	chr10:4881680-4881830	K562	blood:	n/a	chr10:4881742-4881750
25	RAD21	chr10:4881642-4881834	A549	lung:	n/a	chr10:4881742-4881751
26	CTCF	chr10:4881597-4881832	K562	blood:	n/a	chr10:4881742-4881750
27	RAD21	chr10:4881525-4881996	MCF-7	breast:	n/a	chr10:4881742-4881751
28	CTCF	chr10:4881700-4881850	HUVEC	blood vessel:	n/a	chr10:4881742-4881750
29	CTCF	chr10:4881680-4881830	MCF-7	breast:	n/a	chr10:4881742-4881750
30	CTCF	chr10:4881680-4881830	HCPEpiC	choroid plexus:	n/a	chr10:4881742-4881750
31	CTCF	chr10:4881672-4881843	MCF-7	breast:	n/a	chr10:4881742-4881750
32	RAD21	chr10:4881439-4881916	MCF-7	breast:	n/a	chr10:4881742-4881751
33	CTCF	chr10:4881651-4881838	MCF-7	breast:	n/a	chr10:4881742-4881750
34	CTCF	chr10:4881569-4881906	K562	blood:	n/a	chr10:4881742-4881750
35	CTCF	chr10:4881596-4881921	K562	blood:	n/a	chr10:4881742-4881750
36	CTCF	chr10:4881659-4881836	K562	blood:	n/a	chr10:4881742-4881750

No.	Distal block	Cell Line	Cell type
1	chr10:4874323..4877569-chr10:4879999..4883471,5	K562	blood:
2	chr10:4867480..4871698-chr10:4879074..4886734,7	K562	blood:
3	chr10:4867330..4870814-chr10:4881434..4885680,3	K562	blood:

Variant related genes	Relation type
AKR1E2	TF binding region
ENSG00000165568	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs12360475	1.00[AFR][1000 genomes]
rs12569410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569715	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569839	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12570011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12570641	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571192	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571543	1.00[ASN][1000 genomes]
rs12571691	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571967	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12571976	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571980	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572008	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572395	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12572449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12573010	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12573159	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12573197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12573397	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12573398	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12573501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12573669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12573690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12573808	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133680	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17133710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133791	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133794	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133796	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1901642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993182	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2397982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2397983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2397985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2397986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924275	0.83[ASN][1000 genomes]
rs2961570	0.86[ASN][1000 genomes]
rs34882719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35340010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750737	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750738	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750739	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750740	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41289263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4518987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4593903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56767310	0.87[AMR][1000 genomes]
rs7082529	1.00[AFR][1000 genomes]
rs7086737	1.00[AFR][1000 genomes]
rs72478258	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74111799	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7912440	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4869200-4883600	Weak transcription	Thymus	Thymus
2	chr10:4869200-4884800	Weak transcription	Esophagus	oesophagus
3	chr10:4869200-4889200	Weak transcription	NHLF	lung
4	chr10:4869200-4889600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:4869200-4890400	Weak transcription	Right Atrium	heart
6	chr10:4869200-4891600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:4869200-4892200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:4869400-4883400	Weak transcription	Colonic Mucosa	Colon
9	chr10:4869400-4886800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:4869400-4889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:4869400-4889600	Weak transcription	HSMM	muscle
12	chr10:4869400-4891600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:4869600-4883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:4869600-4885000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:4869600-4889200	Weak transcription	HUVEC	blood vessel
16	chr10:4869600-4889600	Weak transcription	NHEK	skin
17	chr10:4869800-4884800	Weak transcription	Right Ventricle	heart
18	chr10:4869800-4885800	Weak transcription	Stomach Mucosa	stomach
19	chr10:4870600-4886200	Weak transcription	Small Intestine	intestine
20	chr10:4870600-4887800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:4870600-4891800	Weak transcription	Fetal Brain Male	brain
22	chr10:4872400-4889200	Weak transcription	NHDF-Ad	bronchial
23	chr10:4872600-4889200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr10:4872600-4892400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:4872800-4882200	Weak transcription	Liver	Liver
26	chr10:4872800-4886600	Strong transcription	A549	lung
27	chr10:4873000-4887000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:4873000-4887600	Strong transcription	Fetal Muscle Leg	muscle
29	chr10:4873400-4885600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:4874600-4891800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:4875200-4887000	Weak transcription	Fetal Intestine Large	intestine
32	chr10:4876000-4891600	Weak transcription	Brain Angular Gyrus	brain
33	chr10:4878000-4884800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:4878000-4891800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:4878200-4884800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:4878600-4894600	Weak transcription	Ovary	ovary
37	chr10:4878800-4884600	Weak transcription	Fetal Brain Female	brain
38	chr10:4878800-4885400	Weak transcription	Pancreas	Pancrea
39	chr10:4878800-4889400	Weak transcription	Osteobl	bone
40	chr10:4878800-4891800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr10:4878800-4891800	Weak transcription	Fetal Kidney	kidney
42	chr10:4879200-4891600	Weak transcription	Colon Smooth Muscle	Colon
43	chr10:4879400-4884800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:4879400-4891800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr10:4879600-4882800	Enhancers	Fetal Heart	heart
46	chr10:4879800-4882000	Genic enhancers	Fetal Stomach	stomach
47	chr10:4879800-4891800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr10:4879800-4891800	Weak transcription	Lung	lung
49	chr10:4880000-4884400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr10:4880000-4884600	Weak transcription	Placenta	Placenta

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