Variant report

Variant	rs7531169
Chromosome Location	chr1:180123812-180123813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:293)
CpG islands
(count:122)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:180123335-180123869	U87	brain:	n/a	n/a
2	POLR2A	chr1:180122889-180123878	SK-N-SH	brain:	n/a	n/a
3	HEY1	chr1:180123299-180124184	HepG2	liver:	n/a	chr1:180123698-180123713
4	MAX	chr1:180123547-180124962	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:180122966-180123901	HL-60	blood:	n/a	n/a
6	WRNIP1	chr1:180123109-180123852	GM12878	blood:	n/a	n/a
7	MAX	chr1:180123616-180124231	HepG2	liver:	n/a	n/a
8	TBP	chr1:180123473-180124168	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:180123211-180124255	GM18505	blood:	n/a	n/a
10	HMGN3	chr1:180123412-180124578	K562	blood:	n/a	n/a
11	MYC	chr1:180123258-180124332	NB4	blood:	n/a	n/a
12	MXI1	chr1:180123165-180124738	GM12878	blood:	n/a	chr1:180123364-180123379 chr1:180123945-180123954 chr1:180124358-180124367
13	POLR2A	chr1:180123249-180123873	GM12892	blood:	n/a	n/a
14	JUND	chr1:180123516-180124239	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:180123195-180124269	GM19099	blood:	n/a	n/a
16	POLR2A	chr1:180123371-180124265	HUVEC	blood vessel:	n/a	n/a
17	NR2F2	chr1:180123191-180123857	K562	blood:	n/a	n/a
18	GABPA	chr1:180123327-180124275	K562	blood:	n/a	chr1:180123962-180123971
19	JUND	chr1:180123048-180124218	K562	blood:	n/a	n/a
20	POLR2A	chr1:180123386-180123874	K562	blood:	n/a	n/a
21	ATF3	chr1:180123202-180123883	A549	lung:	n/a	n/a
22	STAT5A	chr1:180123385-180123919	K562	blood:	n/a	n/a
23	IRF1	chr1:180123401-180124177	K562	blood:	n/a	n/a
24	POLR2A	chr1:180123325-180124208	U87	brain:	n/a	n/a
25	EGR1	chr1:180123475-180124602	K562	blood:	n/a	chr1:180124313-180124327 chr1:180123851-180123865 chr1:180124373-180124387
26	SIN3A	chr1:180123052-180125035	H1-hESC	embryonic stem cell:	n/a	chr1:180123821-180123834 chr1:180123945-180123954
27	POLR2A	chr1:180123346-180123865	HepG2	liver:	n/a	n/a
28	RUNX3	chr1:180123359-180124324	GM12878	blood:	n/a	n/a
29	MAZ	chr1:180123331-180124266	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr1:180122896-180124310	PBDE	blood:	n/a	n/a
31	MAZ	chr1:180123089-180125392	IMR90	lung:	n/a	n/a
32	MXI1	chr1:180123549-180124058	K562	blood:	n/a	chr1:180123945-180123954
33	MYC	chr1:180123270-180124203	H1-hESC	embryonic stem cell:	n/a	n/a
34	POU2F2	chr1:180123112-180123888	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:180123135-180124468	PFSK-1	brain:	n/a	n/a
36	UBTF	chr1:180123366-180124284	K562	blood:	n/a	n/a
37	POLR2A	chr1:180123320-180124214	U87	brain:	n/a	n/a
38	TEAD4	chr1:180123104-180123854	K562	blood:	n/a	n/a
39	TAF1	chr1:180123488-180124301	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:180122678-180124264	MCF10A-Er-Src	breast:	n/a	n/a
41	GABPA	chr1:180123440-180123870	K562	blood:	n/a	n/a
42	ELF1	chr1:180123354-180123882	K562	blood:	n/a	n/a
43	USF1	chr1:180123762-180124119	SK-N-SH_RA	brain:	n/a	chr1:180123942-180123953
44	ELF1	chr1:180123165-180124095	HCT-116	colon:	n/a	chr1:180123984-180123996
45	POLR2A	chr1:180123427-180123904	A549	lung:	n/a	n/a
46	ESR1	chr1:180123578-180123856	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr1:180123347-180123885	A549	lung:	n/a	n/a
48	POLR2A	chr1:180123195-180124541	GM15510	blood:	n/a	n/a
49	POLR2A	chr1:180123713-180123854	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZBTB33	chr1:180123414-180123860	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180123798-180123848	AoSMC	blood vessel:	n/a
2	chr1:180123796-180123846	HCM	heart:	n/a
3	chr1:180123798-180123848	AG10803	skin:	n/a
4	chr1:180123798-180123848	CMK	blood:	n/a
5	chr1:180123796-180123846	HCF	heart:	n/a
6	chr1:180123798-180123848	HCF	heart:	n/a
7	chr1:180123796-180123846	IMR90	lung:	fetal
8	chr1:180123796-180123846	ProgFib	skin:	n/a
9	chr1:180123796-180123846	AG04449	skin:	fetal
10	chr1:180123798-180123848	HRE	kidney:	n/a
11	chr1:180123796-180123846	K562	blood:	n/a
12	chr1:180123798-180123848	HCM	heart:	n/a
13	chr1:180123798-180123848	AG04449	skin:	fetal
14	chr1:180123798-180123848	K562	blood:	n/a
15	chr1:180123796-180123846	Caco-2	colon:	n/a
16	chr1:180123796-180123846	NHDF-neo	bronchial:	n/a
17	chr1:180123798-180123848	HL-60	blood:	n/a
18	chr1:180123798-180123848	GM19239	blood:	n/a
19	chr1:180123798-180123848	U87	brain:	n/a
20	chr1:180123798-180123848	H1-hESC	embryonic stem cell:	embryo
21	chr1:180123796-180123846	Jurkat	blood:	n/a
22	chr1:180123798-180123848	AG09319	gingival:	n/a
23	chr1:180123798-180123848	HEEpiC	esophagus:	n/a
24	chr1:180123798-180123848	ovcar-3	ovarian:	n/a
25	chr1:180123796-180123846	PFSK-1	brain:	n/a
26	chr1:180123796-180123846	AoSMC	blood vessel:	n/a
27	chr1:180123798-180123848	SKMC	muscle:	n/a
28	chr1:180123796-180123846	AG09319	gingival:	n/a
29	chr1:180123796-180123846	CMK	blood:	n/a
30	chr1:180123796-180123846	NH-A	brain:	n/a
31	chr1:180123798-180123848	NB4	blood:	n/a
32	chr1:180123798-180123848	NHBE	bronchial:	n/a
33	chr1:180123796-180123846	HepG2	liver:	n/a
34	chr1:180123796-180123846	HUVEC	blood vessel:	n/a
35	chr1:180123796-180123846	AG09309	skin:	n/a
36	chr1:180123796-180123846	HRE	kidney:	n/a
37	chr1:180123796-180123846	AG10803	skin:	n/a
38	chr1:180123798-180123848	GM12878	blood:	n/a
39	chr1:180123798-180123848	NHDF-neo	bronchial:	n/a
40	chr1:180123798-180123848	SK-N-MC	brain:	n/a
41	chr1:180123796-180123846	BJ	skin:	n/a
42	chr1:180123796-180123846	GM06990	blood:	n/a
43	chr1:180123796-180123846	H1-hESC	embryonic stem cell:	embryo
44	chr1:180123798-180123848	HRPEpiC	eye:	n/a
45	chr1:180123798-180123848	ECC-1	luminal epithelium:	n/a
46	chr1:180123798-180123848	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:180123798-180123848	Hela-S3	cervix:	n/a
48	chr1:180123796-180123846	HRPEpiC	eye:	n/a
49	chr1:180123798-180123848	MCF-7	breast:	n/a
50	chr1:180123796-180123846	NHBE	bronchial:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180123409..180123996-chr11:62609034..62610004,2	Hela-S3	cervix:
2	chr1:8937559..8938400-chr1:180123331..180124251,2	Hela-S3	cervix:
3	chr1:179844379..179846987-chr1:180122185..180123975,2	MCF-7	breast:
4	chr1:180123151..180123859-chr12:16034873..16035578,2	HCT-116	colon:
5	chr1:179844894..179847778-chr1:180122782..180124340,2	K562	blood:
6	chr1:180123605..180124282-chr15:51200703..51201684,2	MCF-7	breast:
7	chr1:179849468..179853023-chr1:180122560..180126275,4	K562	blood:
8	chr1:180123484..180124292-chr16:46722902..46723601,2	HCT-116	colon:
9	chr1:180123093..180123878-chr14:81687002..81687977,2	Hela-S3	cervix:
10	chr1:179843719..179847778-chr1:180121939..180127812,8	K562	blood:
11	chr1:180061211..180064450-chr1:180123630..180126274,3	MCF-7	breast:
12	chr1:180123681..180124534-chr16:66967758..66968260,2	Hela-S3	cervix:
13	chr1:180123549..180124057-chr5:176924083..176924757,2	Hela-S3	cervix:
14	chr1:180123601..180124224-chr14:78174006..78174785,2	NB4	blood:
15	chr1:180123486..180124377-chrX:53350238..53351237,2	MCF-7	breast:
16	chr1:180123619..180124402-chr7:66147119..66147881,2	NB4	blood:
17	chr1:180122867..180124515-chr12:122237701..122240027,2	MCF-7	breast:
18	chr1:179922139..179925093-chr1:180123797..180126783,3	K562	blood:
19	chr1:179923898..179926923-chr1:180121889..180124249,4	MCF-7	breast:
20	chr1:180109932..180112525-chr1:180121644..180123894,2	MCF-7	breast:
21	chr1:180123247..180124010-chr10:106097820..106098659,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
QSOX1	TF binding region
QSOX1	CpG island
ENSG00000260360	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000166595	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000272906	Chromatin interaction
ENSG00000165417	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000069329	Chromatin interaction
ENSG00000091651	Chromatin interaction
ENSG00000143337	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000023734	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000074800	Chromatin interaction
ENSG00000081014	Chromatin interaction
ENSG00000151491	Chromatin interaction
ENSG00000124313	Chromatin interaction
ENSG00000236269	Chromatin interaction
ENSG00000148841	Chromatin interaction
ENSG00000169905	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs35481032	0.95[ASN][1000 genomes]
rs3753812	0.95[ASN][1000 genomes]
rs3767193	0.93[ASN][1000 genomes]
rs3767196	0.95[ASN][1000 genomes]
rs3820311	0.95[ASN][1000 genomes]
rs3820312	0.95[ASN][1000 genomes]
rs3845392	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1007590	chr1:180121480-180236452	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv999104	chr1:180121480-180242659	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	esv3355160	chr1:180122754-180125702	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7531169	QSOX1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180122400-180124600	Active TSS	Esophagus	oesophagus
2	chr1:180122400-180125000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:180122800-180124400	Active TSS	Fetal Brain Female	brain
4	chr1:180122800-180124800	Active TSS	Colon Smooth Muscle	Colon
5	chr1:180122800-180124800	Active TSS	Fetal Kidney	kidney
6	chr1:180122800-180125000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:180122800-180125200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:180122800-180125400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:180123000-180124000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:180123000-180124400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:180123000-180124400	Active TSS	Fetal Muscle Trunk	muscle
12	chr1:180123000-180124600	Active TSS	Psoas Muscle	Psoas
13	chr1:180123000-180124800	Active TSS	Aorta	Aorta
14	chr1:180123000-180125000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:180123000-180125200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:180123000-180125600	Active TSS	Left Ventricle	heart
17	chr1:180123200-180124400	Active TSS	Fetal Intestine Large	intestine
18	chr1:180123200-180124600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:180123200-180124600	Active TSS	Fetal Heart	heart
20	chr1:180123200-180124600	Active TSS	Rectal Smooth Muscle	rectum
21	chr1:180123200-180124800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:180123200-180124800	Active TSS	HSMMtube	muscle
23	chr1:180123200-180125000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:180123200-180125200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:180123200-180125200	Active TSS	A549	lung
26	chr1:180123200-180125200	Active TSS	NHDF-Ad	bronchial
27	chr1:180123200-180125400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:180123200-180125400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:180123200-180125400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:180123200-180125400	Active TSS	Ovary	ovary
31	chr1:180123200-180125400	Active TSS	HSMM	muscle
32	chr1:180123200-180125600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:180123400-180124200	Active TSS	Primary B cells from cord blood	blood
34	chr1:180123400-180124200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:180123400-180124200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:180123400-180124400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:180123400-180124400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:180123400-180124400	Active TSS	Primary T cells from cord blood	blood
39	chr1:180123400-180124400	Active TSS	Primary hematopoietic stem cells	blood
40	chr1:180123400-180124400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:180123400-180124400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:180123400-180124400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:180123400-180124400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:180123400-180124400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr1:180123400-180124400	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:180123400-180124400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr1:180123400-180124400	Active TSS	Fetal Muscle Leg	muscle
48	chr1:180123400-180124400	Active TSS	Placenta	Placenta
49	chr1:180123400-180124400	Active TSS	Lung	lung
50	chr1:180123400-180124400	Active TSS	Dnd41	blood

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