Variant report

Variant	rs10737418
Chromosome Location	chr1:225996954-225996955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:225996820-225996970	HepG2	liver:	n/a	n/a
2	CTCF	chr1:225996820-225996970	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr1:225996840-225996990	GM12864	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:225996933-225996983	SK-N-SH_RA	brain:	n/a
2	chr1:225996933-225996983	RPTEC	kidney:	n/a
3	chr1:225996933-225996983	GM12878	blood:	n/a
4	chr1:225996933-225996983	NB4	blood:	n/a
5	chr1:225996933-225996983	SAEC	small airway:	n/a
6	chr1:225996933-225996983	ovcar-3	ovarian:	n/a
7	chr1:225996933-225996983	AoSMC	blood vessel:	n/a
8	chr1:225996933-225996983	MCF-7	breast:	n/a
9	chr1:225996933-225996983	PFSK-1	brain:	n/a
10	chr1:225996933-225996983	NT2-D1	testis:	n/a
11	chr1:225996933-225996983	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:225996933-225996983	HIPEpiC	eye:	n/a
13	chr1:225996933-225996983	HRPEpiC	eye:	n/a
14	chr1:225996933-225996983	GM12891	blood:	n/a
15	chr1:225996933-225996983	HMEC	breast:	n/a
16	chr1:225996933-225996983	SKMC	muscle:	n/a
17	chr1:225996933-225996983	HRE	kidney:	n/a
18	chr1:225996933-225996983	NHDF-neo	bronchial:	n/a
19	chr1:225996933-225996983	HCPEpiC	choroid plexus:	n/a
20	chr1:225996933-225996983	IMR90	lung:	fetal
21	chr1:225996933-225996983	SK-N-MC	brain:	n/a
22	chr1:225996933-225996983	Hepatocyte	liver:	n/a
23	chr1:225996933-225996983	SK-N-SH	brain:	n/a
24	chr1:225996933-225996983	T-47D	breast:	n/a
25	chr1:225996933-225996983	HEEpiC	esophagus:	n/a
26	chr1:225996933-225996983	AG04449	skin:	fetal
27	chr1:225996933-225996983	BJ	skin:	n/a
28	chr1:225996933-225996983	HAEpiC	amniotic membrane:	n/a
29	chr1:225996933-225996983	PrEC	prostate:	n/a
30	chr1:225996933-225996983	HNPCEpiC	eye:	n/a
31	chr1:225996933-225996983	PANC-1	pancreas:	n/a
32	chr1:225996933-225996983	AG09309	skin:	n/a
33	chr1:225996933-225996983	HUVEC	blood vessel:	n/a
34	chr1:225996933-225996983	K562	blood:	n/a
35	chr1:225996933-225996983	HCF	heart:	n/a
36	chr1:225996933-225996983	GM12892	blood:	n/a
37	chr1:225996933-225996983	ECC-1	luminal epithelium:	n/a
38	chr1:225996933-225996983	A549	lung:	n/a
39	chr1:225996933-225996983	NHBE	bronchial:	n/a
40	chr1:225996933-225996983	MCF10A-Er-Src	breast:	n/a
41	chr1:225996933-225996983	GM19239	blood:	n/a
42	chr1:225996933-225996983	Hela-S3	cervix:	n/a
43	chr1:225996933-225996983	BE2_C	brain:	n/a
44	chr1:225996933-225996983	AG04450	lung:	fetal
45	chr1:225996933-225996983	HL-60	blood:	n/a
46	chr1:225996933-225996983	CMK	blood:	n/a
47	chr1:225996933-225996983	AG09319	gingival:	n/a
48	chr1:225996933-225996983	HCM	heart:	n/a
49	chr1:225996933-225996983	U87	brain:	n/a
50	chr1:225996933-225996983	Caco-2	colon:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225962862..225967352-chr1:225996084..226002774,11	MCF-7	breast:
2	chr1:225989164..225991391-chr1:225995297..225997953,3	K562	blood:
3	chr1:225962294..225967531-chr1:225994011..226002080,11	K562	blood:
4	chr1:225963904..225970275-chr1:225994893..226001084,15	K562	blood:
5	chr1:225963814..225970754-chr1:225996230..226002908,14	MCF-7	breast:
6	chr1:225995407..225997753-chr1:226172864..226175325,2	K562	blood:

No data

Variant related genes	Relation type
EPHX1	TF binding region
EPHX1	CpG island
ENSG00000234112	Chromatin interaction
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10737419	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10737420	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10753409	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10799323	0.86[EUR][1000 genomes]
rs10799324	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10915877	0.82[CEU][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes]
rs10915878	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11583520	0.81[EUR][1000 genomes]
rs11808973	0.89[EUR][1000 genomes]
rs12727007	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12741681	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12744609	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12757220	0.86[EUR][1000 genomes]
rs1467143	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4559463	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4653436	1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4653679	0.84[EUR][1000 genomes]
rs4653684	0.90[EUR][1000 genomes]
rs4653685	0.90[EUR][1000 genomes]
rs4653686	0.89[EUR][1000 genomes]
rs4653688	0.97[ASN][1000 genomes]
rs55736073	0.98[ASN][1000 genomes]
rs55954107	0.92[ASN][1000 genomes]
rs56195257	0.92[ASN][1000 genomes]
rs57440270	0.98[ASN][1000 genomes]
rs58241471	0.98[ASN][1000 genomes]
rs6426089	0.87[ASW][hapmap];0.89[CEU][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6687036	0.82[CEU][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv945327	chr1:225991086-225998770	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10737418	TMEM63A	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225975000-225997200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:225975000-225997400	Weak transcription	Aorta	Aorta
3	chr1:225978800-225997200	Weak transcription	K562	blood
4	chr1:225979200-225997200	Weak transcription	Right Ventricle	heart
5	chr1:225979600-225997200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:225979600-225997400	Weak transcription	Lung	lung
7	chr1:225979600-225997800	Weak transcription	Gastric	stomach
8	chr1:225979800-225997200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:225979800-225997200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:225979800-225997200	Weak transcription	A549	lung
11	chr1:225979800-225997400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:225979800-225997600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:225979800-225997600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:225980000-225997200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:225980000-225997200	Weak transcription	Fetal Stomach	stomach
16	chr1:225980000-225997200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:225980000-225997200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:225980000-225997400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:225980000-225997600	Weak transcription	Left Ventricle	heart
20	chr1:225981200-225997200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:225982200-225997200	Weak transcription	Thymus	Thymus
22	chr1:225982200-225997400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:225982200-225997400	Weak transcription	Ovary	ovary
24	chr1:225982600-225997200	Weak transcription	Placenta	Placenta
25	chr1:225983000-225997000	Weak transcription	Fetal Lung	lung
26	chr1:225983000-225997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:225983000-225997200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:225983000-225997200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:225983200-225997200	Weak transcription	HSMM	muscle
30	chr1:225983200-225997400	Weak transcription	Primary B cells from cord blood	blood
31	chr1:225983200-225997400	Weak transcription	Primary T cells from cord blood	blood
32	chr1:225983400-225997200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:225983600-225997200	Weak transcription	Fetal Brain Female	brain
34	chr1:225984200-225997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:225984400-225997200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:225984600-225997400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:225984600-225997400	Weak transcription	Fetal Intestine Large	intestine
38	chr1:225986000-225998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:225986200-225997200	Weak transcription	Brain Germinal Matrix	brain
40	chr1:225988600-225997400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:225988800-225997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:225989200-225997400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:225989600-225997200	Weak transcription	Liver	Liver
44	chr1:225991000-225997000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:225991200-225997600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:225993800-225997200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:225993800-225997200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:225993800-225997400	Weak transcription	HUVEC	blood vessel
49	chr1:225994000-225997400	Weak transcription	Fetal Intestine Small	intestine
50	chr1:225996200-225997200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links