Variant report

Variant	rs4532215
Chromosome Location	chr4:47466021-47466022
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	POLR2A	chr4:47465192-47466028	IMR90	lung:	n/a	n/a
2	EP300	chr4:47465599-47466130	GM12878	blood:	n/a	n/a
3	MXI1	chr4:47465254-47466046	H1-hESC	embryonic stem cell:	n/a	chr4:47465735-47465744
4	USF1	chr4:47465261-47466150	HCT-116	colon:	n/a	n/a
5	POLR2A	chr4:47464732-47466112	GM19099	blood:	n/a	n/a
6	JUND	chr4:47465495-47466040	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr4:47465273-47466063	MCF-7	breast:	n/a	chr4:47465732-47465741 chr4:47465692-47465701 chr4:47465692-47465701 chr4:47465733-47465744 chr4:47465734-47465743
8	USF1	chr4:47465453-47466051	K562	blood:	n/a	n/a
9	USF1	chr4:47465272-47466068	SK-N-SH	brain:	n/a	n/a
10	MAX	chr4:47465356-47466065	H1-hESC	embryonic stem cell:	n/a	chr4:47465732-47465741 chr4:47465692-47465701 chr4:47465692-47465701 chr4:47465733-47465744 chr4:47465734-47465743
11	MXI1	chr4:47465229-47466041	GM12878	blood:	n/a	chr4:47465735-47465744
12	NRF1	chr4:47465588-47466124	K562	blood:	n/a	chr4:47465784-47465795 chr4:47465786-47465795 chr4:47465784-47465795 chr4:47465781-47465795 chr4:47465784-47465798
13	UBTF	chr4:47465252-47466029	K562	blood:	n/a	n/a
14	MAX	chr4:47465234-47466104	SK-N-SH	brain:	n/a	chr4:47465732-47465741 chr4:47465692-47465701 chr4:47465692-47465701 chr4:47465733-47465744 chr4:47465734-47465743
15	USF1	chr4:47465235-47466048	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr4:47465131-47466240	HCT-116	colon:	n/a	chr4:47465732-47465741 chr4:47465692-47465701 chr4:47465692-47465701 chr4:47465733-47465744 chr4:47465734-47465743
17	POLR2A	chr4:47465120-47466063	GM12878	blood:	n/a	n/a
18	BHLHE40	chr4:47465138-47466081	K562	blood:	n/a	n/a
19	POLR2A	chr4:47465150-47466026	Hela-S3	cervix:	n/a	n/a
20	SMC3	chr4:47464959-47466081	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:47465139-47466032	U87	brain:	n/a	n/a
22	ATF3	chr4:47465468-47466025	GM12878	blood:	n/a	chr4:47465570-47465579
23	CHD1	chr4:47465200-47466168	GM12878	blood:	n/a	n/a
24	MAX	chr4:47465200-47466134	NB4	blood:	n/a	chr4:47465732-47465741 chr4:47465692-47465701 chr4:47465692-47465701 chr4:47465733-47465744 chr4:47465734-47465743
25	BHLHE40	chr4:47465050-47466041	GM12878	blood:	n/a	n/a
26	MXI1	chr4:47464707-47466713	SK-N-SH	brain:	n/a	chr4:47465735-47465744
27	POLR2A	chr4:47465176-47466022	HCT-116	colon:	n/a	n/a
28	MAX	chr4:47465182-47466112	ECC-1	luminal epithelium:	n/a	chr4:47465732-47465741 chr4:47465692-47465701 chr4:47465692-47465701 chr4:47465733-47465744 chr4:47465734-47465743
29	POLR2A	chr4:47465266-47466025	PFSK-1	brain:	n/a	n/a
30	RUNX3	chr4:47464848-47466040	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:47465051-47466073	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:47465128-47466029	U87	brain:	n/a	n/a
33	POU2F2	chr4:47465091-47466032	GM12878	blood:	n/a	n/a
34	TBP	chr4:47465149-47466073	GM12878	blood:	n/a	n/a
35	SIN3A	chr4:47464776-47466137	H1-hESC	embryonic stem cell:	n/a	chr4:47465389-47465398 chr4:47465735-47465744 chr4:47465733-47465742
36	MAX	chr4:47465265-47466032	A549	lung:	n/a	chr4:47465732-47465741 chr4:47465692-47465701 chr4:47465692-47465701 chr4:47465733-47465744 chr4:47465734-47465743
37	MXI1	chr4:47464626-47466347	IMR90	lung:	n/a	chr4:47465735-47465744
38	EP300	chr4:47465193-47466133	GM12878	blood:	n/a	n/a
39	TAL1	chr4:47465297-47466101	K562	blood:	n/a	n/a
40	MAX	chr4:47465231-47466091	ECC-1	luminal epithelium:	n/a	chr4:47465732-47465741 chr4:47465692-47465701 chr4:47465692-47465701 chr4:47465733-47465744 chr4:47465734-47465743
41	PML	chr4:47465025-47466249	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:47465132-47466035	U87	brain:	n/a	n/a
43	NRF1	chr4:47465346-47466047	Hela-S3	cervix:	n/a	chr4:47465784-47465795 chr4:47465786-47465795 chr4:47465784-47465795 chr4:47465781-47465795 chr4:47465784-47465798
44	POLR2A	chr4:47464740-47466121	GM12891	blood:	n/a	n/a
45	POLR2A	chr4:47465173-47466029	K562	blood:	n/a	n/a
46	STAT5A	chr4:47465088-47466148	GM12878	blood:	n/a	chr4:47465194-47465206 chr4:47465487-47465499
47	FOXM1	chr4:47465201-47466080	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:47465211-47466048	SK-N-MC	brain:	n/a	n/a
49	USF2	chr4:47465098-47466049	GM12878	blood:	n/a	chr4:47465690-47465701 chr4:47465733-47465744
50	ZNF143	chr4:47465327-47466032	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47465829..47468286-chr4:47470252..47472768,2	K562	blood:
2	chr4:47464764..47466968-chr8:67973543..67975836,2	MCF-7	breast:

Variant related genes	Relation type
COMMD8	TF binding region
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10938485	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10938486	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729677	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645143	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13103660	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13115740	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13129226	0.99[EUR][1000 genomes]
rs13140559	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16860200	1.00[CEU][hapmap]
rs17600665	0.81[CEU][hapmap]
rs17653595	0.81[CEU][hapmap]
rs28409227	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28436205	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28572263	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28588386	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28589873	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34022241	0.82[EUR][1000 genomes]
rs34096542	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35143328	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35197130	0.99[EUR][1000 genomes]
rs35293354	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35796318	0.82[EUR][1000 genomes]
rs4070	0.99[EUR][1000 genomes]
rs4235149	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4235150	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4349580	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4435723	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4510445	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585276	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4694849	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4695233	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4695234	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59268722	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6447553	0.96[EUR][1000 genomes]
rs6447554	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6843791	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71611998	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73813526	1.00[ASN][1000 genomes]
rs7690580	1.00[CEU][hapmap];0.96[TSI][hapmap];1.00[ASN][1000 genomes]
rs9993271	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998984	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4532215	CORIN	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47464600-47466200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr4:47464600-47466200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:47464600-47466200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr4:47464600-47466200	Active TSS	NHLF	lung
5	chr4:47464600-47466400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:47464800-47466200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr4:47464800-47466200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:47464800-47466200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:47464800-47466200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:47464800-47466200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:47464800-47466200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:47464800-47466200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:47464800-47466200	Active TSS	Colonic Mucosa	Colon
14	chr4:47464800-47466200	Active TSS	Fetal Muscle Trunk	muscle
15	chr4:47464800-47466200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr4:47464800-47466200	Active TSS	Right Atrium	heart
17	chr4:47464800-47466200	Active TSS	Right Ventricle	heart
18	chr4:47464800-47466200	Active TSS	Stomach Mucosa	stomach
19	chr4:47464800-47466200	Active TSS	A549	lung
20	chr4:47464800-47466200	Active TSS	HSMMtube	muscle
21	chr4:47464800-47466400	Active TSS	Fetal Brain Female	brain
22	chr4:47465000-47466200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr4:47465000-47466200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:47465000-47466200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:47465000-47466200	Active TSS	Aorta	Aorta
26	chr4:47465000-47466200	Active TSS	Fetal Intestine Small	intestine
27	chr4:47465000-47466200	Active TSS	Fetal Stomach	stomach
28	chr4:47465000-47466200	Active TSS	Ovary	ovary
29	chr4:47465000-47466200	Active TSS	Psoas Muscle	Psoas
30	chr4:47465000-47466200	Active TSS	Stomach Smooth Muscle	stomach
31	chr4:47465000-47466400	Active TSS	Brain Hippocampus Middle	brain
32	chr4:47465200-47466200	Active TSS	Brain Germinal Matrix	brain
33	chr4:47465200-47466200	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr4:47465200-47466200	Active TSS	Thymus	Thymus
35	chr4:47465200-47466400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:47465400-47466200	Active TSS	Primary T cells fromperipheralblood	blood
37	chr4:47465400-47466200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:47465400-47466200	Active TSS	Fetal Muscle Leg	muscle
39	chr4:47465400-47466200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr4:47465400-47466400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:47465800-47466200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr4:47465800-47466200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr4:47465800-47466200	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr4:47465800-47466200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr4:47465800-47466200	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr4:47465800-47466200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr4:47465800-47466200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr4:47465800-47466200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr4:47465800-47466200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr4:47465800-47466200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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