Variant report

Variant	rs8006832
Chromosome Location	chr14:21577837-21577838
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:21577764-21578473	ECC-1	luminal epithelium:	n/a	n/a
2	RUNX3	chr14:21577694-21578468	GM12878	blood:	n/a	n/a
3	EP300	chr14:21577836-21578246	GM12878	blood:	n/a	n/a
4	HNF4A	chr14:21577811-21578098	HepG2	liver:	n/a	n/a
5	HNF4A	chr14:21577779-21578058	HepG2	liver:	n/a	n/a
6	NFIC	chr14:21577738-21578424	GM12878	blood:	n/a	n/a
7	NRF1	chr14:21577832-21578049	GM12878	blood:	n/a	n/a
8	SP1	chr14:21577666-21578377	HepG2	liver:	n/a	n/a
9	EP300	chr14:21577837-21578226	GM12878	blood:	n/a	n/a
10	EP300	chr14:21577790-21578113	HepG2	liver:	n/a	n/a
11	SREBP2	chr14:21577395-21578686	GM12878	blood:	n/a	n/a
12	FOXM1	chr14:21577739-21578434	GM12878	blood:	n/a	n/a
13	BATF	chr14:21577787-21578326	GM12878	blood:	n/a	n/a
14	PML	chr14:21577753-21578564	GM12878	blood:	n/a	n/a
15	RUNX3	chr14:21577694-21578413	GM12878	blood:	n/a	n/a
16	IRF4	chr14:21577747-21578383	GM12878	blood:	n/a	n/a
17	EP300	chr14:21577745-21578292	HepG2	liver:	n/a	n/a
18	USF2	chr14:21577834-21577988	HepG2	liver:	n/a	n/a
19	IRF4	chr14:21577750-21578362	GM12878	blood:	n/a	n/a
20	SP1	chr14:21577782-21578329	GM12878	blood:	n/a	n/a
21	HNF4G	chr14:21577720-21578098	HepG2	liver:	n/a	chr14:21577916-21577931
22	SP1	chr14:21577780-21578300	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:21577836-21578446	ECC-1	luminal epithelium:	n/a	n/a
24	MXI1	chr14:21577758-21578124	HepG2	liver:	n/a	n/a
25	POU2F2	chr14:21577768-21578354	GM12878	blood:	n/a	n/a
26	MTA3	chr14:21577813-21578649	GM12878	blood:	n/a	n/a
27	ATF2	chr14:21577775-21578370	GM12878	blood:	n/a	n/a
28	PAX5	chr14:21577770-21578332	GM12878	blood:	n/a	n/a
29	ARID3A	chr14:21577707-21578288	HepG2	liver:	n/a	n/a
30	EP300	chr14:21577833-21578216	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21577096..21579625-chr14:21595233..21598177,2	K562	blood:
2	chr14:21570872..21573574-chr14:21575032..21578187,3	MCF-7	breast:
3	chr14:21574150..21576525-chr14:21577672..21579539,2	MCF-7	breast:
4	chr14:21576698..21579313-chr14:21579611..21582479,2	K562	blood:
5	chr14:21535951..21540860-chr14:21573309..21578466,6	K562	blood:

No data

Variant related genes	Relation type
ZNF219	TF binding region
ENSG00000165795	Chromatin interaction
ENSG00000178107	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000258722	Chromatin interaction
ENSG00000200102	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10146334	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11621987	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2274682	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs28645145	1.00[ASN][1000 genomes]
rs3827912	1.00[JPT][hapmap]
rs4982409	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982411	0.87[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61405772	0.82[ASN][1000 genomes]
rs73571904	0.88[ASN][1000 genomes]
rs73571905	0.91[ASN][1000 genomes]
rs73571913	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv524093	chr14:21574690-21652897	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8006832	EFS	cis	cerebellum	SCAN
rs8006832	PNP	cis	lymphoblastoid	seeQTL
rs8006832	ABHD4	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21575400-21578200	Weak transcription	Dnd41	blood
2	chr14:21575800-21578000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:21575800-21578200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:21575800-21579200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr14:21575800-21579400	Enhancers	HepG2	liver
6	chr14:21576000-21578000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:21576000-21585600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:21576200-21578000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:21576400-21578000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:21576400-21578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:21576400-21578000	Weak transcription	NHEK	skin
12	chr14:21576400-21578200	Weak transcription	HMEC	breast
13	chr14:21576400-21578600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:21576800-21579400	Enhancers	Hela-S3	cervix
15	chr14:21576800-21580000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:21577000-21578600	Flanking Active TSS	GM12878-XiMat	blood
17	chr14:21577200-21579000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:21577400-21578400	Enhancers	Fetal Intestine Large	intestine
19	chr14:21577400-21578400	Enhancers	Fetal Intestine Small	intestine
20	chr14:21577400-21578400	Enhancers	K562	blood
21	chr14:21577400-21579200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr14:21577600-21578200	Enhancers	Fetal Kidney	kidney
23	chr14:21577800-21578600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr14:21577800-21578600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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