Variant report

Variant	rs7535032
Chromosome Location	chr1:150947745-150947746
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:150943251-150948012	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150944384-150944393 chr1:150946655-150946664
2	UBTF	chr1:150945726-150948108	K562	blood:	n/a	n/a
3	MAZ	chr1:150945740-150948029	IMR90	lung:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
4	MAZ	chr1:150946550-150947933	K562	blood:	n/a	chr1:150947366-150947376 chr1:150946655-150946664
5	POLR2A	chr1:150947058-150947812	U87	brain:	n/a	n/a
6	POLR2A	chr1:150947691-150948068	K562	blood:	n/a	n/a
7	REST	chr1:150945933-150948001	H1-neurons	neurons:	n/a	chr1:150947435-150947445
8	POLR2A	chr1:150945109-150948108	K562	blood:	n/a	n/a
9	POLR2A	chr1:150946108-150947925	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:150947028-150947778	A549	lung:	n/a	n/a
11	CTCF	chr1:150947680-150947830	GM12872	blood:	n/a	n/a
12	CCNT2	chr1:150946187-150947970	K562	blood:	n/a	chr1:150947425-150947434 chr1:150947112-150947121
13	MAX	chr1:150947644-150948038	K562	blood:	n/a	n/a
14	HEY1	chr1:150947655-150947957	K562	blood:	n/a	chr1:150947714-150947729
15	MAX	chr1:150945481-150947984	HepG2	liver:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
16	ZBTB7A	chr1:150946399-150947955	K562	blood:	n/a	n/a
17	HMGN3	chr1:150946052-150947918	K562	blood:	n/a	n/a
18	POLR2A	chr1:150947064-150947793	U87	brain:	n/a	n/a
19	POLR2A	chr1:150946467-150947802	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:150946682-150947936	K562	blood:	n/a	n/a
21	CTCF	chr1:150947640-150947790	GM12873	blood:	n/a	n/a
22	TAF1	chr1:150946380-150947826	HepG2	liver:	n/a	n/a
23	ZBTB7A	chr1:150947098-150947799	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr1:150945760-150950424	K562	blood:	n/a	n/a
25	POLR2A	chr1:150946981-150947966	H1-neurons	neurons:	n/a	n/a
26	UBTF	chr1:150946058-150948056	K562	blood:	n/a	n/a
27	POLR2A	chr1:150946134-150947999	H1-neurons	neurons:	n/a	n/a
28	MAX	chr1:150945757-150947814	A549	lung:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150946655-150946664
29	ZBTB7A	chr1:150947199-150948000	K562	blood:	n/a	n/a
30	MXI1	chr1:150942976-150948211	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr1:150947058-150947794	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr1:150946906-150948020	PANC-1	pancreas:	n/a	n/a
33	SMARCB1	chr1:150945746-150947939	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150946206..150948952-chr1:151031959..151033620,2	K562	blood:
2	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
3	chr1:150897410..150900366-chr1:150947492..150952156,4	K562	blood:
4	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
5	chr1:150549534..150551689-chr1:150945917..150947994,2	MCF-7	breast:
6	chr1:150897410..150899179-chr1:150947492..150949288,2	K562	blood:
7	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
8	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
9	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
10	chr1:150532195..150535413-chr1:150944658..150948005,3	MCF-7	breast:
11	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
12	chr1:150847696..150850504-chr1:150946094..150948149,2	K562	blood:
13	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
14	chr1:150946897..150947894-chr14:54863216..54863946,2	Hela-S3	cervix:
15	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
16	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
17	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
18	chr1:149859214..149861702-chr1:150947048..150949834,2	MCF-7	breast:
19	chr1:150802146..150804523-chr1:150946488..150948912,2	MCF-7	breast:

Variant related genes	Relation type
CERS2	TF binding region
ENSG00000100526	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143458	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11579289	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12040707	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12042263	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12044969	0.94[ASN][1000 genomes]
rs16832604	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305812	0.88[ASN][1000 genomes]
rs2305815	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs267724	0.82[ASN][1000 genomes]
rs267736	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34090972	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3754210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs533928	0.91[ASN][1000 genomes]
rs539118	0.93[ASN][1000 genomes]
rs61817649	0.86[ASN][1000 genomes]
rs6671489	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6688248	0.86[ASN][1000 genomes]
rs72706512	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7521445	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7535848	0.86[ASN][1000 genomes]
rs771203	0.93[ASN][1000 genomes]
rs771204	0.93[ASN][1000 genomes]
rs771205	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
6	esv3405761	chr1:150945953-150948501	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7535032	ARNT	cis	Whole Blood	GTEx
rs7535032	CTSK	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150945600-150947800	Active TSS	HSMMtube	muscle
2	chr1:150945600-150947800	Active TSS	NHDF-Ad	bronchial
3	chr1:150945600-150948000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:150945600-150948000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:150945800-150947800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:150945800-150947800	Active TSS	A549	lung
7	chr1:150945800-150948000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:150945800-150948000	Active TSS	Fetal Kidney	kidney
9	chr1:150945800-150948200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:150945800-150948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:150946000-150947800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:150946000-150947800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:150946000-150947800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:150946000-150947800	Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:150946000-150947800	Active TSS	Liver	Liver
16	chr1:150946000-150947800	Active TSS	Pancreas	Pancrea
17	chr1:150946000-150947800	Active TSS	Hela-S3	cervix
18	chr1:150946000-150947800	Active TSS	NHLF	lung
19	chr1:150946000-150948000	Active TSS	Aorta	Aorta
20	chr1:150946000-150948000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:150946000-150948000	Active TSS	Ovary	ovary
22	chr1:150946000-150948200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:150946000-150948200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr1:150946000-150948200	Active TSS	HSMM	muscle
25	chr1:150946000-150948600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:150946200-150947800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:150946200-150947800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:150946200-150947800	Active TSS	Placenta Amnion	Placenta Amnion
29	chr1:150946200-150947800	Active TSS	Psoas Muscle	Psoas
30	chr1:150946200-150947800	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:150946200-150947800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr1:150946200-150947800	Active TSS	Thymus	Thymus
33	chr1:150946200-150947800	Active TSS	Spleen	Spleen
34	chr1:150946200-150947800	Active TSS	NH-A	brain
35	chr1:150946200-150947800	Active TSS	NHEK	skin
36	chr1:150946200-150948000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:150946200-150948000	Active TSS	Fetal Lung	lung
38	chr1:150946200-150948000	Active TSS	Small Intestine	intestine
39	chr1:150946200-150948200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:150946200-150948200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:150946200-150948200	Active TSS	Brain Cingulate Gyrus	brain
42	chr1:150946200-150948200	Active TSS	Colon Smooth Muscle	Colon
43	chr1:150946200-150948400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr1:150946400-150947800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr1:150946400-150947800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:150946400-150947800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:150946400-150947800	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr1:150946400-150947800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr1:150946400-150947800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr1:150946400-150947800	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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