Variant report

Variant	rs4701032
Chromosome Location	chr5:178511407-178511408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr5:178511403-178511490	K562	blood:	n/a	n/a
2	STAT3	chr5:178511342-178511544	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr5:178511336-178511459	HepG2	liver:	n/a	n/a
4	MAFK	chr5:178511314-178511543	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178511373-178511423	HCT-116	colon:	n/a
2	chr5:178511373-178511423	NHBE	bronchial:	n/a
3	chr5:178511373-178511423	BE2_C	brain:	n/a
4	chr5:178511373-178511423	Jurkat	blood:	n/a
5	chr5:178511373-178511423	HCM	heart:	n/a
6	chr5:178511373-178511423	ovcar-3	ovarian:	n/a
7	chr5:178511373-178511423	Hela-S3	cervix:	n/a
8	chr5:178511373-178511423	CMK	blood:	n/a
9	chr5:178511373-178511423	SAEC	small airway:	n/a
10	chr5:178511373-178511423	GM12878	blood:	n/a
11	chr5:178511373-178511423	HCF	heart:	n/a
12	chr5:178511373-178511423	SK-N-SH	brain:	n/a
13	chr5:178511373-178511423	AG04450	lung:	fetal
14	chr5:178511373-178511423	U87	brain:	n/a
15	chr5:178511373-178511423	NH-A	brain:	n/a
16	chr5:178511373-178511423	HCPEpiC	choroid plexus:	n/a
17	chr5:178511373-178511423	H1-hESC	embryonic stem cell:	embryo
18	chr5:178511373-178511423	AG09319	gingival:	n/a
19	chr5:178511373-178511423	LNCaP	prostate:	n/a
20	chr5:178511373-178511423	SK-N-MC	brain:	n/a
21	chr5:178511373-178511423	PFSK-1	brain:	n/a
22	chr5:178511373-178511423	MCF-7	breast:	n/a
23	chr5:178511373-178511423	AG09309	skin:	n/a
24	chr5:178511373-178511423	GM12891	blood:	n/a
25	chr5:178511373-178511423	GM19239	blood:	n/a
26	chr5:178511373-178511423	AoSMC	blood vessel:	n/a
27	chr5:178511373-178511423	IMR90	lung:	fetal
28	chr5:178511373-178511423	HRPEpiC	eye:	n/a
29	chr5:178511373-178511423	HRCEpiC	kidney:	n/a
30	chr5:178511373-178511423	BJ	skin:	n/a
31	chr5:178511373-178511423	ProgFib	skin:	n/a
32	chr5:178511373-178511423	HAEpiC	amniotic membrane:	n/a
33	chr5:178511373-178511423	HIPEpiC	eye:	n/a
34	chr5:178511373-178511423	HMEC	breast:	n/a
35	chr5:178511373-178511423	ECC-1	luminal epithelium:	n/a
36	chr5:178511373-178511423	HEK293	kidney:	embryo
37	chr5:178511373-178511423	NHDF-neo	bronchial:	n/a
38	chr5:178511373-178511423	SKMC	muscle:	n/a
39	chr5:178511373-178511423	HL-60	blood:	n/a
40	chr5:178511373-178511423	GM12892	blood:	n/a
41	chr5:178511373-178511423	HepG2	liver:	n/a
42	chr5:178511373-178511423	MCF10A-Er-Src	breast:	n/a
43	chr5:178511373-178511423	HUVEC	blood vessel:	n/a
44	chr5:178511373-178511423	HNPCEpiC	eye:	n/a
45	chr5:178511373-178511423	NT2-D1	testis:	n/a
46	chr5:178511373-178511423	Hepatocyte	liver:	n/a
47	chr5:178511373-178511423	SK-N-SH_RA	brain:	n/a
48	chr5:178511373-178511423	PANC-1	pancreas:	n/a
49	chr5:178511373-178511423	K562	blood:	n/a
50	chr5:178511373-178511423	AG04449	skin:	fetal

No data

Variant related genes	Relation type
ENSG00000253144	TF binding region
ENSG00000253144	CpG island

Extended variants
information (count: 49 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10038484	0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10057660	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10063310	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10067183	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10068311	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10072631	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10479525	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1049532	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562233	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1562234	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2161170	0.82[AMR][1000 genomes]
rs34320394	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3797590	0.92[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes]
rs3797615	0.92[CEU][hapmap]
rs3822591	0.96[CEU][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4700780	0.87[CEU][hapmap]
rs4701035	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701036	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4701037	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4701038	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4701040	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4701041	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4701042	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4701043	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4701046	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4701048	0.92[CEU][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes]
rs62393088	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6864241	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6868661	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6877691	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs716782	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7727747	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7728180	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1018650	chr5:178428743-178515196	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1025616	chr5:178429975-178515196	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv1026351	chr5:178429975-178535309	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1031829	chr5:178442633-178658706	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv482750	chr5:178482653-178663586	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1023392	chr5:178495775-178516483	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1021642	chr5:178495775-178535309	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1028000	chr5:178500527-178516483	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1015745	chr5:178503162-178519187	ZNF genes & repeats Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1823858	chr5:178507069-178515895	ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv600491	chr5:178507090-178515853	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv1026790	chr5:178511268-178687428	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4701032	DOK3	cis	cerebellum	SCAN
rs4701032	RAB24	cis	parietal	SCAN
rs4701032	ZNF879	cis	cerebellum	SCAN
rs4701032	DDX41	cis	cerebellum	SCAN
rs4701032	ZNF454	cis	parietal	SCAN
rs4701032	SRPX	trans	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178488400-178511600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:178488400-178512000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:178488600-178517200	ZNF genes & repeats	Liver	Liver
4	chr5:178490600-178517400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:178492600-178512200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr5:178492600-178513400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr5:178492800-178517200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:178492800-178517200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr5:178498600-178512000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:178498600-178512000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:178500600-178511800	ZNF genes & repeats	Fetal Brain Female	brain
12	chr5:178500600-178512400	ZNF genes & repeats	Brain Substantia Nigra	brain
13	chr5:178507800-178512200	ZNF genes & repeats	Left Ventricle	heart
14	chr5:178508600-178511600	ZNF genes & repeats	Right Ventricle	heart
15	chr5:178508800-178511600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
16	chr5:178509200-178512200	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr5:178509600-178512000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:178509600-178512000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr5:178509600-178512000	ZNF genes & repeats	Fetal Lung	lung
20	chr5:178509600-178512200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:178509600-178512200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
22	chr5:178509600-178512200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr5:178509600-178512400	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr5:178509600-178512400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
25	chr5:178509600-178512400	ZNF genes & repeats	HSMM	muscle

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