Variant report

Variant	rs1032471
Chromosome Location	chr8:104241994-104241995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr8:104241389-104242556	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:104241345-104242412	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr8:104241687-104242618	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr8:104241969-104242267	MCF10A-Er-Src	breast:	n/a	chr8:104242099-104242110
5	FOS	chr8:104241451-104242379	HUVEC	blood vessel:	n/a	chr8:104242099-104242110
6	MYC	chr8:104241838-104242523	MCF10A-Er-Src	breast:	n/a	n/a
7	NFIC	chr8:104241854-104242494	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr8:104241472-104242559	SK-N-SH	brain:	n/a	n/a
9	FOS	chr8:104241715-104242309	MCF10A-Er-Src	breast:	n/a	chr8:104242099-104242110
10	FOS	chr8:104241871-104242309	MCF10A-Er-Src	breast:	n/a	chr8:104242099-104242110
11	GATA2	chr8:104241393-104242363	HUVEC	blood vessel:	n/a	chr8:104241653-104241667
12	GATA3	chr8:104241412-104242522	SK-N-SH	brain:	n/a	n/a
13	JUND	chr8:104241882-104242384	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr8:104241906-104242530	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr8:104241341-104242674	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr8:104241957-104242397	U87	brain:	n/a	n/a
17	FOS	chr8:104241874-104242431	MCF10A-Er-Src	breast:	n/a	chr8:104242099-104242110
18	FOSL2	chr8:104241851-104242412	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:104241987-104242037	IMR90	lung:	fetal
2	chr8:104241987-104242037	NHBE	bronchial:	n/a
3	chr8:104241987-104242037	SAEC	small airway:	n/a
4	chr8:104241987-104242037	NH-A	brain:	n/a
5	chr8:104241987-104242037	HCM	heart:	n/a
6	chr8:104241987-104242037	HIPEpiC	eye:	n/a
7	chr8:104241987-104242037	MCF10A-Er-Src	breast:	n/a
8	chr8:104241987-104242037	ECC-1	luminal epithelium:	n/a
9	chr8:104241987-104242037	NT2-D1	testis:	n/a
10	chr8:104241987-104242037	T-47D	breast:	n/a
11	chr8:104241987-104242037	HAEpiC	amniotic membrane:	n/a
12	chr8:104241987-104242037	HUVEC	blood vessel:	n/a
13	chr8:104241987-104242037	GM12891	blood:	n/a
14	chr8:104241987-104242037	HEEpiC	esophagus:	n/a
15	chr8:104241987-104242037	NB4	blood:	n/a
16	chr8:104241987-104242037	PANC-1	pancreas:	n/a
17	chr8:104241987-104242037	AG09319	gingival:	n/a
18	chr8:104241987-104242037	BJ	skin:	n/a
19	chr8:104241987-104242037	AG04450	lung:	fetal
20	chr8:104241987-104242037	Hepatocyte	liver:	n/a
21	chr8:104241987-104242037	GM19239	blood:	n/a
22	chr8:104241987-104242037	H1-hESC	embryonic stem cell:	embryo
23	chr8:104241987-104242037	HRCEpiC	kidney:	n/a
24	chr8:104241987-104242037	SK-N-MC	brain:	n/a
25	chr8:104241987-104242037	ovcar-3	ovarian:	n/a
26	chr8:104241987-104242037	GM12878	blood:	n/a
27	chr8:104241987-104242037	HCT-116	colon:	n/a
28	chr8:104241987-104242037	HEK293	kidney:	embryo
29	chr8:104241987-104242037	Caco-2	colon:	n/a
30	chr8:104241987-104242037	AoSMC	blood vessel:	n/a
31	chr8:104241987-104242037	LNCaP	prostate:	n/a
32	chr8:104241987-104242037	AG10803	skin:	n/a
33	chr8:104241987-104242037	MCF-7	breast:	n/a
34	chr8:104241987-104242037	Jurkat	blood:	n/a
35	chr8:104241987-104242037	A549	lung:	n/a
36	chr8:104241987-104242037	HCPEpiC	choroid plexus:	n/a
37	chr8:104241987-104242037	HL-60	blood:	n/a
38	chr8:104241987-104242037	HepG2	liver:	n/a
39	chr8:104241987-104242037	HMEC	breast:	n/a
40	chr8:104241987-104242037	U87	brain:	n/a
41	chr8:104241987-104242037	SKMC	muscle:	n/a
42	chr8:104241987-104242037	Hela-S3	cervix:	n/a
43	chr8:104241987-104242037	HCF	heart:	n/a
44	chr8:104241987-104242037	HRPEpiC	eye:	n/a
45	chr8:104241987-104242037	HRE	kidney:	n/a
46	chr8:104241987-104242037	ProgFib	skin:	n/a
47	chr8:104241987-104242037	SK-N-SH_RA	brain:	n/a
48	chr8:104241987-104242037	AG04449	skin:	fetal
49	chr8:104241987-104242037	PFSK-1	brain:	n/a
50	chr8:104241987-104242037	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104224914..104226448-chr8:104241581..104244349,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253851	TF binding region
ENSG00000253851	CpG island
ENSG00000164929	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10089343	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10097121	1.00[CHB][hapmap]
rs10100382	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102413	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10112450	1.00[CHB][hapmap]
rs10156252	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1061196	1.00[CHB][hapmap]
rs11781628	0.89[ASW][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs11785583	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13263611	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13282967	1.00[CHB][hapmap]
rs17205821	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17228538	1.00[CHB][hapmap]
rs17802416	1.00[CHB][hapmap]
rs17804088	1.00[CHB][hapmap]
rs17804149	1.00[CHB][hapmap]
rs2948449	1.00[CHB][hapmap]
rs3104026	1.00[CHB][hapmap]
rs34208282	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34612546	1.00[ASN][1000 genomes]
rs34893881	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468866	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6989714	1.00[CHB][hapmap]
rs6990501	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7013734	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464317	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7839421	1.00[CHB][hapmap]
rs7845210	1.00[CHB][hapmap]
rs827528	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs827537	1.00[CHB][hapmap]
rs827546	1.00[CHB][hapmap]
rs951826	1.00[CHB][hapmap]
rs973242	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv14660	chr8:104182119-104245529	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1032471	FZD6	cis	parietal	SCAN
rs1032471	FZD6	cis	cerebellum	SCAN
rs1032471	DCAF13	cis	cerebellum	SCAN
rs1032471	DCAF13	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104226400-104242800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:104227600-104242200	Weak transcription	Fetal Brain Female	brain
3	chr8:104227600-104245400	Weak transcription	Fetal Brain Male	brain
4	chr8:104231200-104243000	Weak transcription	Esophagus	oesophagus
5	chr8:104233600-104242200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:104237600-104242800	Strong transcription	Primary hematopoietic stem cells	blood
7	chr8:104238400-104242800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:104238400-104245200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:104238600-104242200	Weak transcription	Aorta	Aorta
10	chr8:104240000-104242400	Enhancers	Brain Substantia Nigra	brain
11	chr8:104240000-104243000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:104240200-104243000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:104240200-104243000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:104240400-104242000	Enhancers	Liver	Liver
15	chr8:104240600-104243200	Enhancers	HUVEC	blood vessel
16	chr8:104240800-104242800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:104240800-104243200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:104240800-104243600	Enhancers	Fetal Heart	heart
19	chr8:104241000-104242000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:104241000-104242400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:104241000-104242400	Enhancers	Adipose Nuclei	Adipose
22	chr8:104241000-104242400	Enhancers	Fetal Intestine Large	intestine
23	chr8:104241000-104242600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:104241000-104242600	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:104241000-104243000	Enhancers	NHDF-Ad	bronchial
26	chr8:104241200-104242000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:104241200-104242400	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:104241200-104242600	Enhancers	Brain Anterior Caudate	brain
29	chr8:104241200-104242800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:104241200-104242800	Enhancers	NHLF	lung
31	chr8:104241400-104242000	Enhancers	Brain Angular Gyrus	brain
32	chr8:104241400-104242000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr8:104241400-104242200	Weak transcription	Ovary	ovary
34	chr8:104241400-104242600	Enhancers	Brain Hippocampus Middle	brain
35	chr8:104241400-104242600	Enhancers	HSMMtube	muscle
36	chr8:104241400-104242800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:104241400-104243000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:104241400-104243000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:104241400-104243000	Weak transcription	Spleen	Spleen
40	chr8:104241400-104243000	Enhancers	HSMM	muscle
41	chr8:104241600-104242000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:104241600-104242000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr8:104241600-104242400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:104241600-104242400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:104241600-104242400	Enhancers	Colon Smooth Muscle	Colon
46	chr8:104241600-104242400	Enhancers	HMEC	breast
47	chr8:104241600-104242600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:104241600-104242600	Enhancers	NH-A	brain
49	chr8:104241600-104243600	Enhancers	Dnd41	blood
50	chr8:104241800-104242000	Flanking Active TSS	Osteobl	bone

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