Variant report

Variant	rs2924275
Chromosome Location	chr10:4868445-4868446
allele	A/C
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	MAX	chr10:4867911-4869142	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr10:4868239-4868540	SK-N-SH	brain:	n/a	n/a
3	CBX3	chr10:4867802-4869129	K562	blood:	n/a	n/a
4	TAF1	chr10:4868254-4868541	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr10:4868247-4868457	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr10:4868039-4868711	MCF-7	breast:	n/a	n/a
7	POLR2A	chr10:4868120-4869038	HUVEC	blood vessel:	n/a	n/a
8	E2F6	chr10:4867586-4869257	H1-hESC	embryonic stem cell:	n/a	chr10:4868685-4868692 chr10:4868214-4868223 chr10:4868281-4868290
9	CHD2	chr10:4868063-4868928	H1-hESC	embryonic stem cell:	n/a	chr10:4868685-4868692
10	TEAD4	chr10:4867981-4868615	K562	blood:	n/a	n/a
11	USF2	chr10:4868220-4868500	H1-hESC	embryonic stem cell:	n/a	chr10:4868260-4868276
12	POLR2A	chr10:4868113-4869457	K562	blood:	n/a	n/a
13	POLR2A	chr10:4868197-4869085	HUVEC	blood vessel:	n/a	n/a
14	MAZ	chr10:4867946-4869670	K562	blood:	n/a	n/a
15	POLR2A	chr10:4868236-4868593	HCT-116	colon:	n/a	n/a
16	TBL1XR1	chr10:4867970-4869062	K562	blood:	n/a	n/a
17	ATF3	chr10:4868092-4868452	K562	blood:	n/a	n/a
18	E2F6	chr10:4867897-4869137	H1-hESC	embryonic stem cell:	n/a	chr10:4868685-4868692 chr10:4868214-4868223 chr10:4868281-4868290
19	TAL1	chr10:4868278-4868973	K562	blood:	n/a	n/a
20	YY1	chr10:4868195-4868694	K562	blood:	n/a	chr10:4868660-4868669 chr10:4868634-4868645
21	RCOR1	chr10:4867913-4869677	K562	blood:	n/a	n/a
22	POLR2A	chr10:4868054-4871160	K562	blood:	n/a	n/a
23	MYC	chr10:4867993-4869451	K562	blood:	n/a	n/a
24	USF1	chr10:4868217-4868502	A549	lung:	n/a	chr10:4868260-4868276
25	PBX3	chr10:4867921-4868688	A549	lung:	n/a	chr10:4868282-4868291 chr10:4868215-4868224
26	POLR2A	chr10:4867945-4869843	K562	blood:	n/a	n/a
27	POLR2A	chr10:4868233-4868984	A549	lung:	n/a	n/a
28	MYC	chr10:4868274-4868459	HUVEC	blood vessel:	n/a	n/a
29	HEY1	chr10:4868223-4869069	K562	blood:	n/a	n/a
30	NFYB	chr10:4867793-4868948	K562	blood:	n/a	chr10:4868214-4868224 chr10:4868279-4868294 chr10:4868212-4868226 chr10:4868279-4868294 chr10:4868279-4868293 chr10:4868212-4868227 chr10:4868212-4868225 chr10:4868180-4868194 chr10:4868212-4868227
31	POLR2A	chr10:4867929-4869535	K562	blood:	n/a	n/a
32	SP1	chr10:4867935-4868456	H1-hESC	embryonic stem cell:	n/a	chr10:4868280-4868301
33	POLR2A	chr10:4867879-4869270	MCF-7	breast:	n/a	n/a
34	USF1	chr10:4868268-4868509	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr10:4867979-4868999	A549	lung:	n/a	n/a
36	TAF1	chr10:4868232-4869131	A549	lung:	n/a	n/a
37	POLR2A	chr10:4868164-4868967	H1-hESC	embryonic stem cell:	n/a	n/a
38	USF1	chr10:4868188-4868503	SK-N-SH_RA	brain:	n/a	chr10:4868260-4868276
39	PBX3	chr10:4868025-4868636	A549	lung:	n/a	chr10:4868282-4868291 chr10:4868215-4868224
40	MAX	chr10:4867975-4868550	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr10:4868050-4868542	MCF-7	breast:	n/a	n/a
42	NFYA	chr10:4867891-4868553	K562	blood:	n/a	chr10:4868214-4868224 chr10:4868279-4868294 chr10:4868279-4868297 chr10:4868212-4868226 chr10:4868279-4868294 chr10:4868279-4868293 chr10:4868212-4868227 chr10:4868212-4868225 chr10:4868180-4868194 chr10:4868212-4868227
43	POLR2A	chr10:4868265-4868481	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr10:4867854-4869073	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr10:4868227-4868573	HCT-116	colon:	n/a	n/a
46	POLR2A	chr10:4868270-4868455	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr10:4868104-4869295	K562	blood:	n/a	chr10:4868824-4868835 chr10:4868660-4868669 chr10:4868826-4868835 chr10:4868820-4868834 chr10:4868634-4868645
48	HCFC1	chr10:4868081-4869109	K562	blood:	n/a	n/a
49	POLR2A	chr10:4868145-4869019	H1-hESC	embryonic stem cell:	n/a	n/a
50	PBX3	chr10:4867935-4868669	SK-N-SH	brain:	n/a	chr10:4868282-4868291 chr10:4868215-4868224

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:4868398-4868448	PrEC	prostate:	n/a
2	chr10:4868398-4868448	SK-N-SH_RA	brain:	n/a
3	chr10:4868398-4868448	GM12892	blood:	n/a
4	chr10:4868398-4868448	NB4	blood:	n/a
5	chr10:4868398-4868448	HAEpiC	amniotic membrane:	n/a
6	chr10:4868398-4868448	AG09309	skin:	n/a
7	chr10:4868398-4868448	U87	brain:	n/a
8	chr10:4868398-4868448	HCT-116	colon:	n/a
9	chr10:4868398-4868448	Jurkat	blood:	n/a
10	chr10:4868398-4868448	ProgFib	skin:	n/a
11	chr10:4868398-4868448	PFSK-1	brain:	n/a
12	chr10:4868398-4868448	H1-hESC	embryonic stem cell:	embryo
13	chr10:4868398-4868448	PANC-1	pancreas:	n/a
14	chr10:4868398-4868448	HPAEpiC	pulmonary alveolar:	n/a
15	chr10:4868398-4868448	HRCEpiC	kidney:	n/a
16	chr10:4868398-4868448	LNCaP	prostate:	n/a
17	chr10:4868398-4868448	HEEpiC	esophagus:	n/a
18	chr10:4868398-4868448	HCPEpiC	choroid plexus:	n/a
19	chr10:4868398-4868448	T-47D	breast:	n/a
20	chr10:4868398-4868448	RPTEC	kidney:	n/a
21	chr10:4868398-4868448	AG09319	gingival:	n/a
22	chr10:4868398-4868448	HEK293	kidney:	embryo
23	chr10:4868398-4868448	GM12891	blood:	n/a
24	chr10:4868398-4868448	ECC-1	luminal epithelium:	n/a
25	chr10:4868398-4868448	HepG2	liver:	n/a
26	chr10:4868398-4868448	SK-N-SH	brain:	n/a
27	chr10:4868398-4868448	NH-A	brain:	n/a
28	chr10:4868398-4868448	MCF10A-Er-Src	breast:	n/a
29	chr10:4868398-4868448	SK-N-MC	brain:	n/a
30	chr10:4868398-4868448	AoSMC	blood vessel:	n/a
31	chr10:4868398-4868448	SAEC	small airway:	n/a
32	chr10:4868398-4868448	SKMC	muscle:	n/a
33	chr10:4868398-4868448	HL-60	blood:	n/a
34	chr10:4868398-4868448	NHDF-neo	bronchial:	n/a
35	chr10:4868398-4868448	CMK	blood:	n/a
36	chr10:4868398-4868448	ovcar-3	ovarian:	n/a
37	chr10:4868398-4868448	MCF-7	breast:	n/a
38	chr10:4868398-4868448	AG04449	skin:	fetal
39	chr10:4868398-4868448	Hela-S3	cervix:	n/a
40	chr10:4868398-4868448	AG04450	lung:	fetal
41	chr10:4868398-4868448	GM19239	blood:	n/a
42	chr10:4868398-4868448	K562	blood:	n/a
43	chr10:4868398-4868448	HIPEpiC	eye:	n/a
44	chr10:4868398-4868448	HCM	heart:	n/a
45	chr10:4868398-4868448	NT2-D1	testis:	n/a
46	chr10:4868398-4868448	IMR90	lung:	fetal
47	chr10:4868398-4868448	AG10803	skin:	n/a
48	chr10:4868398-4868448	BJ	skin:	n/a
49	chr10:4868398-4868448	GM12878	blood:	n/a
50	chr10:4868398-4868448	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:4866839..4870831-chr10:5488473..5491962,3	MCF-7	breast:
2	chr10:4866089..4871671-chr10:4873094..4876081,6	MCF-7	breast:
3	chr10:4867516..4869900-chr10:5135201..5137283,2	K562	blood:
4	chr10:4867330..4870814-chr10:4881434..4885680,3	K562	blood:
5	chr10:4867480..4871698-chr10:4879074..4886734,7	K562	blood:

Variant related genes	Relation type
AKR1E2	TF binding region
AKR1E2	CpG island
ENSG00000239142	Chromatin interaction
ENSG00000165568	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000196139	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs12569410	0.83[ASN][1000 genomes]
rs12569715	0.83[ASN][1000 genomes]
rs12569839	0.83[ASN][1000 genomes]
rs12570011	0.83[ASN][1000 genomes]
rs12570641	0.83[ASN][1000 genomes]
rs12571065	0.83[ASN][1000 genomes]
rs12571192	0.83[ASN][1000 genomes]
rs12571212	0.83[ASN][1000 genomes]
rs12571543	0.83[ASN][1000 genomes]
rs12571691	0.83[ASN][1000 genomes]
rs12571940	0.83[ASN][1000 genomes]
rs12571967	0.81[ASN][1000 genomes]
rs12571976	0.83[ASN][1000 genomes]
rs12571980	0.83[ASN][1000 genomes]
rs12572008	0.83[ASN][1000 genomes]
rs12572181	0.83[ASN][1000 genomes]
rs12573010	0.83[ASN][1000 genomes]
rs12573159	0.83[ASN][1000 genomes]
rs12573197	0.83[ASN][1000 genomes]
rs12573397	0.83[ASN][1000 genomes]
rs12573398	0.83[ASN][1000 genomes]
rs12573501	0.83[ASN][1000 genomes]
rs12573669	0.83[ASN][1000 genomes]
rs12573690	0.83[ASN][1000 genomes]
rs12573808	0.83[ASN][1000 genomes]
rs17133680	0.83[ASN][1000 genomes]
rs17133691	0.83[ASN][1000 genomes]
rs17133693	0.83[ASN][1000 genomes]
rs17133697	0.83[ASN][1000 genomes]
rs17133705	0.83[ASN][1000 genomes]
rs17133710	0.83[ASN][1000 genomes]
rs17133724	0.83[ASN][1000 genomes]
rs17133747	0.83[ASN][1000 genomes]
rs17133748	0.83[ASN][1000 genomes]
rs17133751	0.83[ASN][1000 genomes]
rs17133752	0.83[ASN][1000 genomes]
rs17133753	0.83[ASN][1000 genomes]
rs17133759	0.83[ASN][1000 genomes]
rs17133762	0.83[ASN][1000 genomes]
rs17133779	0.83[ASN][1000 genomes]
rs17133780	0.83[ASN][1000 genomes]
rs17133791	0.83[ASN][1000 genomes]
rs17133794	0.83[ASN][1000 genomes]
rs17133796	0.83[ASN][1000 genomes]
rs1869214	0.83[ASN][1000 genomes]
rs1869215	0.83[ASN][1000 genomes]
rs1869216	0.83[ASN][1000 genomes]
rs1869217	0.83[ASN][1000 genomes]
rs1869219	0.83[ASN][1000 genomes]
rs1869220	0.83[ASN][1000 genomes]
rs1901642	0.83[ASN][1000 genomes]
rs1993182	0.83[ASN][1000 genomes]
rs2278869	0.83[ASN][1000 genomes]
rs2290348	0.83[ASN][1000 genomes]
rs2290349	0.83[ASN][1000 genomes]
rs2290350	0.83[ASN][1000 genomes]
rs2397982	0.83[ASN][1000 genomes]
rs2397983	0.83[ASN][1000 genomes]
rs2397985	0.83[ASN][1000 genomes]
rs2397986	0.83[ASN][1000 genomes]
rs2961561	0.82[AFR][1000 genomes]
rs2961564	0.84[AFR][1000 genomes]
rs2961570	0.97[ASN][1000 genomes]
rs34882719	0.83[ASN][1000 genomes]
rs35340010	0.83[ASN][1000 genomes]
rs3750737	0.83[ASN][1000 genomes]
rs3750738	0.83[ASN][1000 genomes]
rs3750739	0.83[ASN][1000 genomes]
rs3750740	0.83[ASN][1000 genomes]
rs41289263	0.83[ASN][1000 genomes]
rs4339941	0.83[ASN][1000 genomes]
rs4397733	0.83[ASN][1000 genomes]
rs4480435	0.83[ASN][1000 genomes]
rs4518987	0.83[ASN][1000 genomes]
rs4593903	0.83[ASN][1000 genomes]
rs72478258	0.81[ASN][1000 genomes]
rs7912440	0.97[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2924275	AKR1CL2,AKR1E2	cis	brain	BrainEAC

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4867600-4869000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:4867800-4868800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:4867800-4868800	Active TSS	Stomach Smooth Muscle	stomach
4	chr10:4867800-4869000	Active TSS	Brain Angular Gyrus	brain
5	chr10:4867800-4869200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:4867800-4869200	Active TSS	Brain Anterior Caudate	brain
7	chr10:4867800-4869200	Active TSS	Fetal Brain Female	brain
8	chr10:4867800-4869200	Active TSS	Osteobl	bone
9	chr10:4867800-4869400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr10:4867800-4869400	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr10:4867800-4869400	Active TSS	HSMM	muscle
12	chr10:4867800-4869600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:4867800-4869800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:4868000-4868600	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr10:4868000-4868600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:4868000-4868800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:4868000-4868800	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr10:4868000-4868800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr10:4868000-4868800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr10:4868000-4869000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:4868000-4869000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:4868000-4869000	Active TSS	Primary T cells from cord blood	blood
23	chr10:4868000-4869000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:4868000-4869000	Active TSS	Colon Smooth Muscle	Colon
25	chr10:4868000-4869000	Active TSS	Rectal Smooth Muscle	rectum
26	chr10:4868000-4869000	Active TSS	NHLF	lung
27	chr10:4868000-4869200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr10:4868000-4869200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr10:4868000-4869200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:4868000-4869200	Active TSS	Brain Substantia Nigra	brain
31	chr10:4868000-4869200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr10:4868000-4869400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr10:4868000-4869400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr10:4868000-4869400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr10:4868000-4869400	Active TSS	A549	lung
36	chr10:4868000-4869400	Active TSS	HSMMtube	muscle
37	chr10:4868000-4869400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr10:4868000-4869600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr10:4868200-4868600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr10:4868200-4868600	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr10:4868200-4868600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:4868200-4868800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:4868200-4868800	Active TSS	Muscle Satellite Cultured Cells	--
44	chr10:4868200-4868800	Active TSS	Right Ventricle	heart
45	chr10:4868200-4868800	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr10:4868200-4868800	Enhancers	Spleen	Spleen
47	chr10:4868200-4869000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:4868200-4869000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
49	chr10:4868200-4869000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:4868200-4869000	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links