Variant report

Variant	rs4269506
Chromosome Location	chr8:38964879-38964880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 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	CTCF	chr8:38964840-38964990	NHLF	lung:	n/a	n/a
5	POLR2A	chr8:38964855-38965519	A549	lung:	n/a	n/a
6	POLR2A	chr8:38964871-38965229	HL-60	blood:	n/a	n/a
7	RAD21	chr8:38964768-38965227	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:38963971-38965210	HepG2	liver:	n/a	n/a
9	POLR2A	chr8:38964195-38966666	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr8:38963444-38965828	K562	blood:	n/a	n/a
11	CTCF	chr8:38964818-38965462	SK-N-SH	brain:	n/a	n/a
12	MAX	chr8:38964771-38965365	MCF-7	breast:	n/a	n/a
13	CTCF	chr8:38964797-38965186	MCF-7	breast:	n/a	n/a
14	POLR2A	chr8:38964870-38965447	MCF-7	breast:	n/a	n/a
15	MAX	chr8:38964793-38965476	MCF-7	breast:	n/a	n/a
16	RAD21	chr8:38964822-38965235	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr8:38964876-38965778	A549	lung:	n/a	n/a
18	CTCF	chr8:38964879-38965201	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:38964869-38964898	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr8:38964875-38965180	ProgFib	skin:	n/a	n/a
21	RAD21	chr8:38964789-38965257	MCF-7	breast:	n/a	n/a
22	MYC	chr8:38964871-38965260	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:38964722-38965671	HUVEC	blood vessel:	n/a	n/a
24	MYC	chr8:38964877-38965290	MCF-7	breast:	n/a	n/a
25	POLR2A	chr8:38964863-38965482	HCT-116	colon:	n/a	n/a
26	SIN3AK20	chr8:38964860-38965432	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	chr8:38964858-38964908	HCT-116	colon:	n/a
2	chr8:38964858-38964908	HepG2	liver:	n/a
3	chr8:38964858-38964908	HCM	heart:	n/a
4	chr8:38964858-38964908	HCF	heart:	n/a
5	chr8:38964858-38964908	Jurkat	blood:	n/a
6	chr8:38964858-38964908	GM06990	blood:	n/a
7	chr8:38964858-38964908	BE2_C	brain:	n/a
8	chr8:38964858-38964908	NHBE	bronchial:	n/a
9	chr8:38964858-38964908	ECC-1	luminal epithelium:	n/a
10	chr8:38964858-38964908	T-47D	breast:	n/a
11	chr8:38964858-38964908	H1-hESC	embryonic stem cell:	embryo
12	chr8:38964858-38964908	SKMC	muscle:	n/a
13	chr8:38964858-38964908	AG10803	skin:	n/a
14	chr8:38964858-38964908	SK-N-SH_RA	brain:	n/a
15	chr8:38964858-38964908	GM12891	blood:	n/a
16	chr8:38964858-38964908	MCF10A-Er-Src	breast:	n/a
17	chr8:38964858-38964908	A549	lung:	n/a
18	chr8:38964858-38964908	PANC-1	pancreas:	n/a
19	chr8:38964858-38964908	HNPCEpiC	eye:	n/a
20	chr8:38964858-38964908	HCPEpiC	choroid plexus:	n/a
21	chr8:38964858-38964908	AG04450	lung:	fetal
22	chr8:38964858-38964908	NB4	blood:	n/a
23	chr8:38964858-38964908	PrEC	prostate:	n/a
24	chr8:38964858-38964908	HL-60	blood:	n/a
25	chr8:38964858-38964908	SK-N-MC	brain:	n/a
26	chr8:38964858-38964908	SK-N-SH	brain:	n/a
27	chr8:38964858-38964908	HRCEpiC	kidney:	n/a
28	chr8:38964858-38964908	CMK	blood:	n/a
29	chr8:38964858-38964908	Hepatocyte	liver:	n/a
30	chr8:38964858-38964908	ovcar-3	ovarian:	n/a
31	chr8:38964858-38964908	PFSK-1	brain:	n/a
32	chr8:38964858-38964908	AG09319	gingival:	n/a
33	chr8:38964858-38964908	Hela-S3	cervix:	n/a
34	chr8:38964858-38964908	NT2-D1	testis:	n/a
35	chr8:38964858-38964908	HAEpiC	amniotic membrane:	n/a
36	chr8:38964858-38964908	HIPEpiC	eye:	n/a
37	chr8:38964858-38964908	BJ	skin:	n/a
38	chr8:38964858-38964908	IMR90	lung:	fetal
39	chr8:38964858-38964908	NH-A	brain:	n/a
40	chr8:38964858-38964908	HUVEC	blood vessel:	n/a
41	chr8:38964858-38964908	GM19239	blood:	n/a
42	chr8:38964858-38964908	RPTEC	kidney:	n/a
43	chr8:38964858-38964908	U87	brain:	n/a
44	chr8:38964858-38964908	Caco-2	colon:	n/a
45	chr8:38964858-38964908	HRE	kidney:	n/a
46	chr8:38964858-38964908	AoSMC	blood vessel:	n/a
47	chr8:38964858-38964908	NHDF-neo	bronchial:	n/a
48	chr8:38964858-38964908	K562	blood:	n/a
49	chr8:38964858-38964908	HEEpiC	esophagus:	n/a
50	chr8:38964858-38964908	GM12892	blood:	n/a

No data

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

Extended variants
information (count: 48 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10089487	0.83[MEX][hapmap]
rs10092021	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10093975	0.82[ASW][hapmap];0.83[MEX][hapmap];0.91[YRI][hapmap]
rs10441608	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10809000	0.82[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10809001	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11784624	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11985898	0.82[CEU][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12156418	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28434452	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28563781	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564878	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28579045	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28690874	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28868044	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4075849	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4517088	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4615534	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733904	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733971	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55797573	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59118660	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59814883	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6474517	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6474525	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67200247	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6991383	1.00[ASW][hapmap];0.82[CEU][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6991968	0.83[MEX][hapmap]
rs6997721	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7001985	0.86[YRI][hapmap]
rs7006535	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7013358	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7015505	1.00[ASW][hapmap];0.85[CEU][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7464810	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7818363	0.85[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7821437	0.85[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7823125	0.87[ASW][hapmap]
rs7830975	0.83[EUR][1000 genomes]
rs7831735	0.83[MEX][hapmap]
rs7832284	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834967	0.82[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7835604	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7836422	0.87[ASW][hapmap];0.86[YRI][hapmap]
rs7840044	1.00[ASW][hapmap];0.82[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7840270	0.86[MEX][hapmap]
rs7844927	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9650347	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4269506	ADAM32	cis	Adipose Subcutaneous	GTEx
rs4269506	TM2D2	cis	parietal	SCAN
rs4269506	PLEKHA2	cis	lymphoblastoid	seeQTL
rs4269506	ADAM32	cis	Thyroid	GTEx
rs4269506	ADAM32	cis	Artery Aorta	GTEx
rs4269506	ADAM32	cis	Nerve Tibial	GTEx
rs4269506	TM2D2	cis	cerebellum	SCAN
rs4269506	ADAM32	cis	Artery Tibial	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38919000-38970400	Weak transcription	K562	blood
2	chr8:38921000-38965000	Weak transcription	Gastric	stomach
3	chr8:38944600-38965000	Weak transcription	Esophagus	oesophagus
4	chr8:38947800-38965000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:38949600-38965000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:38949600-38965000	Weak transcription	Lung	lung
7	chr8:38959800-38965200	Strong transcription	A549	lung
8	chr8:38961000-38965000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:38961000-38966200	Weak transcription	HepG2	liver
10	chr8:38961200-38970200	Weak transcription	HMEC	breast
11	chr8:38961400-38965200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:38961600-38965400	Weak transcription	HSMMtube	muscle
13	chr8:38961600-38970000	Weak transcription	GM12878-XiMat	blood
14	chr8:38961800-38965000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:38961800-38965000	Weak transcription	Fetal Lung	lung
16	chr8:38961800-38965000	Weak transcription	Placenta	Placenta
17	chr8:38961800-38965800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:38962600-38965800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:38962800-38966600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:38963200-38966200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:38963200-38970000	Weak transcription	NH-A	brain
22	chr8:38963400-38965000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:38963400-38965000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:38963400-38965800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:38963600-38965800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:38963800-38965000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:38964000-38965400	Enhancers	HUVEC	blood vessel
28	chr8:38964200-38965000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:38964200-38965000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:38964200-38970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:38964400-38965400	Active TSS	NHDF-Ad	bronchial
32	chr8:38964400-38965800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:38964400-38970400	Weak transcription	HSMM	muscle
34	chr8:38964600-38965000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:38964600-38965000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:38964600-38965400	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr8:38964600-38965600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:38964600-38965600	Active TSS	Aorta	Aorta
39	chr8:38964600-38965800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:38964600-38965800	Active TSS	Rectal Smooth Muscle	rectum
41	chr8:38964800-38965000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr8:38964800-38965000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr8:38964800-38965000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr8:38964800-38965000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:38964800-38965000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:38964800-38965000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:38964800-38965000	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr8:38964800-38965000	Active TSS	Brain Germinal Matrix	brain
49	chr8:38964800-38965000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr8:38964800-38965000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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