Variant report

Variant	rs326118
Chromosome Location	chr5:7868543-7868544
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:7868420-7869557	Hela-S3	cervix:	n/a	chr5:7868874-7868885
2	POLR2A	chr5:7868431-7870081	Hela-S3	cervix:	n/a	n/a
3	MYC	chr5:7868293-7868782	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:7868367-7870981	K562	blood:	n/a	n/a
5	POLR2A	chr5:7868453-7869910	K562	blood:	n/a	n/a
6	POLR2A	chr5:7868487-7869812	NB4	blood:	n/a	n/a
7	POLR2A	chr5:7868458-7870040	K562	blood:	n/a	n/a
8	POLR2A	chr5:7868187-7870260	K562	blood:	n/a	n/a
9	WRNIP1	chr5:7868468-7869369	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:7868539-7870032	Hela-S3	cervix:	n/a	n/a
11	CUX1	chr5:7868515-7868740	GM12878	blood:	n/a	n/a
12	IRF1	chr5:7867988-7869519	K562	blood:	n/a	chr5:7868801-7868815
13	POLR2A	chr5:7868335-7870230	GM12891	blood:	n/a	n/a
14	MXI1	chr5:7867903-7870446	SK-N-SH	brain:	n/a	n/a
15	MXI1	chr5:7868446-7869973	HepG2	liver:	n/a	n/a
16	RELA	chr5:7868486-7869419	GM18951	blood:	n/a	n/a
17	MXI1	chr5:7868338-7869597	Hela-S3	cervix:	n/a	n/a
18	HCFC1	chr5:7868144-7871042	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr5:7868516-7869871	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr5:7868377-7869973	IMR90	lung:	n/a	chr5:7868883-7868890
21	MXI1	chr5:7868424-7870235	GM12878	blood:	n/a	n/a
22	MAX	chr5:7868493-7869939	Hela-S3	cervix:	n/a	chr5:7868883-7868890
23	SMARCC1	chr5:7868499-7870109	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr5:7868294-7870616	MCF10A-Er-Src	breast:	n/a	n/a
25	SMARCC2	chr5:7868389-7870186	Hela-S3	cervix:	n/a	n/a
26	NFYA	chr5:7868380-7869712	Hela-S3	cervix:	n/a	chr5:7869192-7869207 chr5:7869196-7869208 chr5:7869192-7869207 chr5:7869188-7869206
27	SIN3AK20	chr5:7868534-7869465	K562	blood:	n/a	n/a
28	MYC	chr5:7868457-7869898	K562	blood:	n/a	chr5:7868883-7868890
29	POLR2A	chr5:7868314-7870583	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:7868539-7870208	PBDE	blood:	n/a	n/a
31	POLR2A	chr5:7868417-7869941	HepG2	liver:	n/a	n/a
32	GTF2F1	chr5:7868442-7869411	Hela-S3	cervix:	n/a	n/a
33	MYC	chr5:7868371-7869952	NB4	blood:	n/a	chr5:7868883-7868890
34	MAX	chr5:7868188-7870214	NB4	blood:	n/a	chr5:7868883-7868890
35	POLR2A	chr5:7868473-7869523	K562	blood:	n/a	n/a
36	CTCF	chr5:7868447-7868741	K562	blood:	n/a	n/a
37	MYC	chr5:7868440-7869538	MCF10A-Er-Src	breast:	n/a	chr5:7868883-7868890
38	POLR2A	chr5:7868317-7869735	SK-N-MC	brain:	n/a	n/a
39	SMC3	chr5:7868348-7869522	Hela-S3	cervix:	n/a	n/a
40	MYC	chr5:7868528-7869942	K562	blood:	n/a	chr5:7868883-7868890
41	POLR2A	chr5:7868533-7870202	Raji	blood:	n/a	n/a
42	RFX5	chr5:7868512-7869910	Hela-S3	cervix:	n/a	n/a
43	RCOR1	chr5:7868519-7870229	K562	blood:	n/a	n/a
44	MXI1	chr5:7868250-7870245	IMR90	lung:	n/a	n/a
45	POLR2A	chr5:7868441-7870118	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:7868496-7868546	HepG2	liver:	n/a
2	chr5:7868496-7868546	CMK	blood:	n/a
3	chr5:7868496-7868546	HEK293	kidney:	embryo
4	chr5:7868496-7868546	HCT-116	colon:	n/a
5	chr5:7868496-7868546	HNPCEpiC	eye:	n/a
6	chr5:7868496-7868546	SKMC	muscle:	n/a
7	chr5:7868496-7868546	Hela-S3	cervix:	n/a
8	chr5:7868496-7868546	H1-hESC	embryonic stem cell:	embryo
9	chr5:7868496-7868546	MCF-7	breast:	n/a
10	chr5:7868496-7868546	NT2-D1	testis:	n/a
11	chr5:7868496-7868546	GM12878	blood:	n/a
12	chr5:7868496-7868546	Jurkat	blood:	n/a
13	chr5:7868496-7868546	GM12891	blood:	n/a
14	chr5:7868496-7868546	SAEC	small airway:	n/a
15	chr5:7868496-7868546	ECC-1	luminal epithelium:	n/a
16	chr5:7868496-7868546	HAEpiC	amniotic membrane:	n/a
17	chr5:7868496-7868546	BJ	skin:	n/a
18	chr5:7868496-7868546	AG04449	skin:	fetal
19	chr5:7868496-7868546	U87	brain:	n/a
20	chr5:7868496-7868546	PFSK-1	brain:	n/a
21	chr5:7868496-7868546	SK-N-SH	brain:	n/a
22	chr5:7868496-7868546	GM12892	blood:	n/a
23	chr5:7868496-7868546	HMEC	breast:	n/a
24	chr5:7868496-7868546	ProgFib	skin:	n/a
25	chr5:7868496-7868546	NB4	blood:	n/a
26	chr5:7868496-7868546	T-47D	breast:	n/a
27	chr5:7868496-7868546	GM06990	blood:	n/a
28	chr5:7868496-7868546	HEEpiC	esophagus:	n/a
29	chr5:7868496-7868546	AG09309	skin:	n/a
30	chr5:7868496-7868546	IMR90	lung:	fetal
31	chr5:7868496-7868546	AG04450	lung:	fetal
32	chr5:7868496-7868546	AG10803	skin:	n/a
33	chr5:7868496-7868546	HRE	kidney:	n/a
34	chr5:7868496-7868546	HCF	heart:	n/a
35	chr5:7868496-7868546	ovcar-3	ovarian:	n/a
36	chr5:7868496-7868546	HIPEpiC	eye:	n/a
37	chr5:7868496-7868546	SK-N-SH_RA	brain:	n/a
38	chr5:7868496-7868546	NHBE	bronchial:	n/a
39	chr5:7868496-7868546	AoSMC	blood vessel:	n/a
40	chr5:7868496-7868546	Hepatocyte	liver:	n/a
41	chr5:7868496-7868546	BE2_C	brain:	n/a
42	chr5:7868496-7868546	HL-60	blood:	n/a
43	chr5:7868496-7868546	HRCEpiC	kidney:	n/a
44	chr5:7868496-7868546	PrEC	prostate:	n/a
45	chr5:7868496-7868546	PANC-1	pancreas:	n/a
46	chr5:7868496-7868546	HCPEpiC	choroid plexus:	n/a
47	chr5:7868496-7868546	Caco-2	colon:	n/a
48	chr5:7868496-7868546	HCM	heart:	n/a
49	chr5:7868496-7868546	LNCaP	prostate:	n/a
50	chr5:7868496-7868546	AG09319	gingival:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:6632601..6634168-chr5:7866506..7869166,2	K562	blood:
2	chr5:7867721..7870602-chr5:7899852..7901700,2	MCF-7	breast:
3	chr5:7867651..7870301-chr5:7886397..7888680,2	MCF-7	breast:
4	chr5:7866975..7869850-chr5:7885041..7887303,3	K562	blood:
5	chr5:7867976..7870362-chr5:7899262..7901515,2	K562	blood:

No data

Variant related genes	Relation type
MTRR	TF binding region
FASTKD3	TF binding region
FASTKD3	CpG island
MTRR	CpG island
ENSG00000037474	Chromatin interaction
ENSG00000124275	Chromatin interaction
ENSG00000145545	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1046014	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12347	0.86[EUR][1000 genomes]
rs161870	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs162026	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162028	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162034	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs162036	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs162039	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs162131	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2303079	0.98[ASN][1000 genomes]
rs326125	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs326210	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327592	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41282639	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61536869	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72716534	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72716536	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9332	0.87[AMR][1000 genomes];0.87[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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs326118	MTRR	Cis_1M	lymphoblastoid	RTeQTL
rs326118	FASTKD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7851800-7868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:7852200-7868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:7865200-7868600	Weak transcription	Small Intestine	intestine
4	chr5:7867600-7868600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:7867600-7868800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr5:7867600-7868800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:7867800-7868600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr5:7867800-7868600	Flanking Active TSS	Brain Substantia Nigra	brain
9	chr5:7867800-7868800	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr5:7867800-7868800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr5:7867800-7868800	Flanking Active TSS	Hela-S3	cervix
12	chr5:7867800-7868800	Flanking Active TSS	HUVEC	blood vessel
13	chr5:7867800-7869000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:7867800-7869000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:7867800-7870400	Active TSS	A549	lung
16	chr5:7867800-7870800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:7868000-7868600	Weak transcription	Spleen	Spleen
18	chr5:7868000-7868800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:7868000-7868800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr5:7868000-7868800	Flanking Active TSS	Liver	Liver
21	chr5:7868000-7868800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr5:7868000-7868800	Flanking Active TSS	Fetal Brain Female	brain
23	chr5:7868000-7868800	Flanking Active TSS	Osteobl	bone
24	chr5:7868000-7869000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:7868000-7870000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:7868000-7870000	Active TSS	HSMM	muscle
27	chr5:7868000-7870200	Active TSS	GM12878-XiMat	blood
28	chr5:7868000-7870400	Active TSS	Fetal Intestine Large	intestine
29	chr5:7868000-7870400	Active TSS	K562	blood
30	chr5:7868000-7870400	Active TSS	NHDF-Ad	bronchial
31	chr5:7868200-7868600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:7868200-7868600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr5:7868200-7868600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr5:7868200-7868600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr5:7868200-7868600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr5:7868200-7868600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr5:7868200-7868600	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr5:7868200-7868600	Flanking Active TSS	Fetal Heart	heart
39	chr5:7868200-7868600	Flanking Active TSS	Fetal Kidney	kidney
40	chr5:7868200-7868600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:7868200-7868600	Active TSS	HepG2	liver
42	chr5:7868200-7868600	Flanking Active TSS	NH-A	brain
43	chr5:7868200-7868800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr5:7868200-7868800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr5:7868200-7868800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr5:7868200-7868800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr5:7868200-7868800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:7868200-7868800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr5:7868200-7868800	Flanking Active TSS	Fetal Thymus	thymus
50	chr5:7868200-7868800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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