Variant report

Variant	rs59118660
Chromosome Location	chr8:38965271-38965272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:38964794-38965271	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:38963530-38966569	A549	lung:	n/a	n/a
3	POLR2A	chr8:38964750-38965575	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:38964901-38965531	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr8:38965220-38965370	AG09319	gingival:	n/a	n/a
6	POLR2A	chr8:38964995-38965447	ProgFib	skin:	n/a	n/a
7	POLR2A	chr8:38965123-38965464	A549	lung:	n/a	n/a
8	CTCF	chr8:38965260-38965410	HMF	breast:	n/a	n/a
9	CTCF	chr8:38965240-38965390	WERI-Rb-1	eye:	n/a	n/a
10	POLR2A	chr8:38964855-38965519	A549	lung:	n/a	n/a
11	POLR2A	chr8:38964907-38965436	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:38964195-38966666	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr8:38965141-38965624	HCT-116	colon:	n/a	n/a
14	CTCF	chr8:38965259-38965351	ProgFib	skin:	n/a	n/a
15	POLR2A	chr8:38963444-38965828	K562	blood:	n/a	n/a
16	CTCF	chr8:38964818-38965462	SK-N-SH	brain:	n/a	n/a
17	MAX	chr8:38964771-38965365	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:38965271-38965413	Fibrobl	skin:	n/a	n/a
19	CTCF	chr8:38965269-38965335	MCF-7	breast:	n/a	n/a
20	POLR2A	chr8:38964870-38965447	MCF-7	breast:	n/a	n/a
21	MAX	chr8:38964793-38965476	MCF-7	breast:	n/a	n/a
22	POLR2A	chr8:38964876-38965778	A549	lung:	n/a	n/a
23	CTCF	chr8:38965220-38965370	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr8:38964908-38965303	MCF-7	breast:	n/a	n/a
25	POLR2A	chr8:38965192-38965362	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:38964922-38965296	K562	blood:	n/a	n/a
27	POLR2A	chr8:38964722-38965671	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr8:38965220-38965370	AG10803	skin:	n/a	n/a
29	MYC	chr8:38964877-38965290	MCF-7	breast:	n/a	n/a
30	POLR2A	chr8:38964863-38965482	HCT-116	colon:	n/a	n/a
31	SIN3AK20	chr8:38964860-38965432	MCF-7	breast:	n/a	n/a
32	POLR2A	chr8:38964970-38965335	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:38965252-38965302	Caco-2	colon:	n/a
2	chr8:38965252-38965302	HPAEpiC	pulmonary alveolar:	n/a
3	chr8:38965252-38965302	NB4	blood:	n/a
4	chr8:38965252-38965302	HEK293	kidney:	embryo
5	chr8:38965252-38965302	GM12878	blood:	n/a
6	chr8:38965252-38965302	PANC-1	pancreas:	n/a
7	chr8:38965252-38965302	IMR90	lung:	fetal
8	chr8:38965252-38965302	HRPEpiC	eye:	n/a
9	chr8:38965252-38965302	HepG2	liver:	n/a
10	chr8:38965252-38965302	H1-hESC	embryonic stem cell:	embryo
11	chr8:38965252-38965302	HCT-116	colon:	n/a
12	chr8:38965252-38965302	HRCEpiC	kidney:	n/a
13	chr8:38965252-38965302	LNCaP	prostate:	n/a
14	chr8:38965252-38965302	U87	brain:	n/a
15	chr8:38965252-38965302	NHDF-neo	bronchial:	n/a
16	chr8:38965252-38965302	Hepatocyte	liver:	n/a
17	chr8:38965252-38965302	SK-N-SH_RA	brain:	n/a
18	chr8:38965252-38965302	AoSMC	blood vessel:	n/a
19	chr8:38965252-38965302	Jurkat	blood:	n/a
20	chr8:38965252-38965302	SKMC	muscle:	n/a
21	chr8:38965252-38965302	T-47D	breast:	n/a
22	chr8:38965252-38965302	SAEC	small airway:	n/a
23	chr8:38965252-38965302	GM12892	blood:	n/a
24	chr8:38965252-38965302	HL-60	blood:	n/a
25	chr8:38965252-38965302	MCF10A-Er-Src	breast:	n/a
26	chr8:38965252-38965302	NHBE	bronchial:	n/a
27	chr8:38965252-38965302	HAEpiC	amniotic membrane:	n/a
28	chr8:38965252-38965302	HCF	heart:	n/a
29	chr8:38965252-38965302	AG04450	lung:	fetal
30	chr8:38965252-38965302	CMK	blood:	n/a
31	chr8:38965252-38965302	AG09319	gingival:	n/a
32	chr8:38965252-38965302	BE2_C	brain:	n/a
33	chr8:38965252-38965302	HUVEC	blood vessel:	n/a
34	chr8:38965252-38965302	PrEC	prostate:	n/a
35	chr8:38965252-38965302	PFSK-1	brain:	n/a
36	chr8:38965252-38965302	GM12891	blood:	n/a
37	chr8:38965252-38965302	ProgFib	skin:	n/a
38	chr8:38965252-38965302	ECC-1	luminal epithelium:	n/a
39	chr8:38965252-38965302	HMEC	breast:	n/a
40	chr8:38965252-38965302	AG04449	skin:	fetal
41	chr8:38965252-38965302	SK-N-MC	brain:	n/a
42	chr8:38965252-38965302	RPTEC	kidney:	n/a
43	chr8:38965252-38965302	HEEpiC	esophagus:	n/a
44	chr8:38965252-38965302	MCF-7	breast:	n/a
45	chr8:38965252-38965302	A549	lung:	n/a
46	chr8:38965252-38965302	BJ	skin:	n/a
47	chr8:38965252-38965302	K562	blood:	n/a
48	chr8:38965252-38965302	HCPEpiC	choroid plexus:	n/a
49	chr8:38965252-38965302	NH-A	brain:	n/a
50	chr8:38965252-38965302	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
ADAM32	TF binding region
ADAM32	CpG island

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10092021	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10441608	0.87[EUR][1000 genomes]
rs10809000	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10809001	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11784624	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11985898	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12156418	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28434452	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28563781	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28564878	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28579045	0.85[EUR][1000 genomes]
rs28690874	0.86[EUR][1000 genomes]
rs28868044	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4075849	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4269506	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517088	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4615534	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733904	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733971	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55797573	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59814883	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6474517	0.84[EUR][1000 genomes]
rs6474525	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67200247	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6991383	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6997721	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7006535	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7013358	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7015505	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7464810	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7818363	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7821437	0.89[EUR][1000 genomes]
rs7830975	0.83[EUR][1000 genomes]
rs7832284	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7834967	0.85[EUR][1000 genomes]
rs7835604	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7840044	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7844927	0.82[EUR][1000 genomes]
rs9650347	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs59118660	ADAM32	cis	Adipose Subcutaneous	GTEx
rs59118660	ADAM32	cis	Nerve Tibial	GTEx
rs59118660	ADAM32	cis	Artery Tibial	GTEx
rs59118660	ADAM32	cis	Thyroid	GTEx
rs59118660	ADAM32	cis	Artery Aorta	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38919000-38970400	Weak transcription	K562	blood
2	chr8:38961000-38966200	Weak transcription	HepG2	liver
3	chr8:38961200-38970200	Weak transcription	HMEC	breast
4	chr8:38961600-38965400	Weak transcription	HSMMtube	muscle
5	chr8:38961600-38970000	Weak transcription	GM12878-XiMat	blood
6	chr8:38961800-38965800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:38962600-38965800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:38962800-38966600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:38963200-38966200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:38963200-38970000	Weak transcription	NH-A	brain
11	chr8:38963400-38965800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:38963600-38965800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:38964000-38965400	Enhancers	HUVEC	blood vessel
14	chr8:38964200-38970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:38964400-38965400	Active TSS	NHDF-Ad	bronchial
16	chr8:38964400-38965800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:38964400-38970400	Weak transcription	HSMM	muscle
18	chr8:38964600-38965400	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr8:38964600-38965600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:38964600-38965600	Active TSS	Aorta	Aorta
21	chr8:38964600-38965800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:38964600-38965800	Active TSS	Rectal Smooth Muscle	rectum
23	chr8:38964800-38965400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr8:38964800-38965400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr8:38964800-38965400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:38964800-38965400	Active TSS	Colonic Mucosa	Colon
27	chr8:38964800-38965400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr8:38964800-38965400	Enhancers	Fetal Brain Male	brain
29	chr8:38964800-38965400	Active TSS	Fetal Kidney	kidney
30	chr8:38964800-38965400	Flanking Active TSS	Left Ventricle	heart
31	chr8:38964800-38965400	Flanking Active TSS	Psoas Muscle	Psoas
32	chr8:38964800-38965400	Enhancers	Stomach Mucosa	stomach
33	chr8:38964800-38965400	Active TSS	Stomach Smooth Muscle	stomach
34	chr8:38964800-38965400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
35	chr8:38964800-38965600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:38964800-38965600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:38964800-38965600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:38964800-38965600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:38964800-38965600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:38964800-38965600	Active TSS	Brain Angular Gyrus	brain
41	chr8:38964800-38965600	Active TSS	Brain Anterior Caudate	brain
42	chr8:38964800-38965600	Active TSS	Colon Smooth Muscle	Colon
43	chr8:38964800-38965600	Active TSS	Fetal Brain Female	brain
44	chr8:38964800-38965600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr8:38964800-38965600	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr8:38964800-38965600	Active TSS	Fetal Stomach	stomach
47	chr8:38964800-38965600	Flanking Active TSS	Ovary	ovary
48	chr8:38964800-38965600	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr8:38964800-38965800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:38964800-38970000	Weak transcription	Muscle Satellite Cultured Cells	--

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