Variant report

Variant	rs8004831
Chromosome Location	chr14:36992011-36992012
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr14:36991426-36992058	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr14:36991350-36992074	H1-hESC	embryonic stem cell:	n/a	chr14:36991595-36991605 chr14:36991595-36991604 chr14:36991596-36991603 chr14:36991595-36991604 chr14:36991594-36991605 chr14:36991678-36991687
3	SUZ12	chr14:36990826-36995085	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr14:36981170-36992861	NT2-D1	testis:	n/a	n/a
5	MAX	chr14:36991333-36992120	H1-hESC	embryonic stem cell:	n/a	chr14:36991595-36991605 chr14:36991595-36991604 chr14:36991596-36991603 chr14:36991595-36991604 chr14:36991594-36991605 chr14:36991678-36991687
6	E2F6	chr14:36991320-36992113	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:36992001-36992051	HRPEpiC	eye:	n/a
2	chr14:36992001-36992051	SKMC	muscle:	n/a
3	chr14:36992001-36992051	NT2-D1	testis:	n/a
4	chr14:36992001-36992051	Caco-2	colon:	n/a
5	chr14:36992001-36992051	ovcar-3	ovarian:	n/a
6	chr14:36992001-36992051	HAEpiC	amniotic membrane:	n/a
7	chr14:36992001-36992051	A549	lung:	n/a
8	chr14:36992001-36992051	SK-N-SH_RA	brain:	n/a
9	chr14:36992001-36992051	AG10803	skin:	n/a
10	chr14:36992001-36992051	PANC-1	pancreas:	n/a
11	chr14:36992001-36992051	HCPEpiC	choroid plexus:	n/a
12	chr14:36992001-36992051	ECC-1	luminal epithelium:	n/a
13	chr14:36992001-36992051	MCF-7	breast:	n/a
14	chr14:36992001-36992051	BJ	skin:	n/a
15	chr14:36992001-36992051	GM12878	blood:	n/a
16	chr14:36992001-36992051	Hepatocyte	liver:	n/a
17	chr14:36992001-36992051	AG09309	skin:	n/a
18	chr14:36992001-36992051	HMEC	breast:	n/a
19	chr14:36992001-36992051	HNPCEpiC	eye:	n/a
20	chr14:36992001-36992051	BE2_C	brain:	n/a
21	chr14:36992001-36992051	HCT-116	colon:	n/a
22	chr14:36992001-36992051	HUVEC	blood vessel:	n/a
23	chr14:36992001-36992051	HepG2	liver:	n/a
24	chr14:36992001-36992051	PFSK-1	brain:	n/a
25	chr14:36992001-36992051	PrEC	prostate:	n/a
26	chr14:36992001-36992051	GM12892	blood:	n/a
27	chr14:36992001-36992051	NHDF-neo	bronchial:	n/a
28	chr14:36992001-36992051	GM12891	blood:	n/a
29	chr14:36992001-36992051	SK-N-MC	brain:	n/a
30	chr14:36992001-36992051	AG04450	lung:	fetal
31	chr14:36992001-36992051	HCM	heart:	n/a
32	chr14:36992001-36992051	H1-hESC	embryonic stem cell:	embryo
33	chr14:36992001-36992051	HRCEpiC	kidney:	n/a
34	chr14:36992001-36992051	HRE	kidney:	n/a
35	chr14:36992001-36992051	CMK	blood:	n/a
36	chr14:36992001-36992051	HIPEpiC	eye:	n/a
37	chr14:36992001-36992051	NB4	blood:	n/a
38	chr14:36992001-36992051	GM19239	blood:	n/a
39	chr14:36992001-36992051	Hela-S3	cervix:	n/a
40	chr14:36992001-36992051	MCF10A-Er-Src	breast:	n/a
41	chr14:36992001-36992051	Jurkat	blood:	n/a
42	chr14:36992001-36992051	K562	blood:	n/a
43	chr14:36992001-36992051	NH-A	brain:	n/a
44	chr14:36992001-36992051	IMR90	lung:	fetal
45	chr14:36992001-36992051	NHBE	bronchial:	n/a
46	chr14:36992001-36992051	AoSMC	blood vessel:	n/a
47	chr14:36992001-36992051	HPAEpiC	pulmonary alveolar:	n/a
48	chr14:36992001-36992051	HL-60	blood:	n/a
49	chr14:36992001-36992051	HEK293	kidney:	embryo
50	chr14:36992001-36992051	HEEpiC	esophagus:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX9-3	chr14:36990849-36992221	ENSG00000253563.2

No data

Variant related genes	Relation type
NKX2-1	TF binding region
ENSG00000257520	TF binding region
ENSG00000257520	CpG island
NKX2-1	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1005343	1.00[ASN][1000 genomes]
rs1005354	1.00[ASN][1000 genomes]
rs1005355	1.00[ASN][1000 genomes]
rs10140871	1.00[EUR][1000 genomes]
rs10143437	1.00[ASN][1000 genomes]
rs10431615	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10483474	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1535340	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1535341	1.00[ASN][1000 genomes]
rs1535342	1.00[ASN][1000 genomes]
rs17104778	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17104780	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17104802	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs177322	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs177325	1.00[ASN][1000 genomes]
rs1956966	1.00[ASN][1000 genomes]
rs2057328	1.00[CHB][hapmap]
rs4528471	1.00[EUR][1000 genomes]
rs73253957	1.00[ASN][1000 genomes]
rs735599	1.00[ASN][1000 genomes]
rs735708	1.00[ASN][1000 genomes]
rs8016238	1.00[CHB][hapmap]
rs927285	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs986876	1.00[ASN][1000 genomes]

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	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36989400-36992600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr14:36990000-36993200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:36990400-36992400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:36990400-36992600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr14:36990400-36992600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr14:36990400-36992600	Enhancers	Pancreas	Pancrea
7	chr14:36990600-36992200	Bivalent Enhancer	Adipose Nuclei	Adipose
8	chr14:36990800-36992600	Bivalent Enhancer	Liver	Liver
9	chr14:36991000-36992600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:36991000-36992600	Bivalent Enhancer	Brain Substantia Nigra	brain
11	chr14:36991000-36992800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr14:36991200-36992600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr14:36991400-36992200	Bivalent Enhancer	Fetal Lung	lung
14	chr14:36991600-36992400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
15	chr14:36991600-36992400	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr14:36991600-36995000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:36991800-36992200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:36991800-36992400	Bivalent/Poised TSS	Right Ventricle	heart
19	chr14:36991800-36992600	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr14:36992000-36992200	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr14:36992000-36992200	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr14:36992000-36992200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
23	chr14:36992000-36992600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr14:36992000-36992800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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