Variant report

Variant	rs56249733
Chromosome Location	chr14:36989596-36989597
allele	A/G
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	CTCF	chr14:36989460-36989610	HMEC	breast:	n/a	chr14:36989542-36989555
2	SUZ12	chr14:36981170-36992861	NT2-D1	testis:	n/a	n/a
3	CTCF	chr14:36989184-36990314	A549	lung:	n/a	chr14:36989542-36989555 chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
4	CTBP2	chr14:36987100-36990550	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr14:36989540-36989690	HCT-116	colon:	n/a	chr14:36989542-36989555
6	SUZ12	chr14:36985791-36990585	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr14:36989434-36989626	K562	blood:	n/a	chr14:36989580-36989593 chr14:36989612-36989625 chr14:36989579-36989593 chr14:36989516-36989526 chr14:36989581-36989591 chr14:36989580-36989590 chr14:36989580-36989593 chr14:36989581-36989592 chr14:36989613-36989622 chr14:36989580-36989593 chr14:36989476-36989489 chr14:36989581-36989591 chr14:36989581-36989590 chr14:36989579-36989594 chr14:36989580-36989593 chr14:36989575-36989597
8	CTCF	chr14:36989460-36989610	SAEC	small airway:	n/a	chr14:36989542-36989555

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:36989588-36989638	HUVEC	blood vessel:	n/a
2	chr14:36989588-36989638	SK-N-SH	brain:	n/a
3	chr14:36989550-36989600	H1-hESC	embryonic stem cell:	embryo
4	chr14:36989588-36989638	HepG2	liver:	n/a
5	chr14:36989588-36989638	U87	brain:	n/a
6	chr14:36989550-36989600	NB4	blood:	n/a
7	chr14:36989550-36989600	HL-60	blood:	n/a
8	chr14:36989588-36989638	SK-N-MC	brain:	n/a
9	chr14:36989588-36989638	PFSK-1	brain:	n/a
10	chr14:36989588-36989638	HAEpiC	amniotic membrane:	n/a
11	chr14:36989550-36989600	AG09309	skin:	n/a
12	chr14:36989588-36989638	BE2_C	brain:	n/a
13	chr14:36989550-36989600	HRCEpiC	kidney:	n/a
14	chr14:36989588-36989638	CMK	blood:	n/a
15	chr14:36989550-36989600	HAEpiC	amniotic membrane:	n/a
16	chr14:36989588-36989638	IMR90	lung:	fetal
17	chr14:36989588-36989638	GM12892	blood:	n/a
18	chr14:36989588-36989638	SAEC	small airway:	n/a
19	chr14:36989588-36989638	PANC-1	pancreas:	n/a
20	chr14:36989588-36989638	AG04450	lung:	fetal
21	chr14:36989550-36989600	HUVEC	blood vessel:	n/a
22	chr14:36989550-36989600	BE2_C	brain:	n/a
23	chr14:36989588-36989638	AG04449	skin:	fetal
24	chr14:36989588-36989638	PrEC	prostate:	n/a
25	chr14:36989550-36989600	GM19239	blood:	n/a
26	chr14:36989588-36989638	MCF-7	breast:	n/a
27	chr14:36989588-36989638	SKMC	muscle:	n/a
28	chr14:36989550-36989600	AG04450	lung:	fetal
29	chr14:36989588-36989638	T-47D	breast:	n/a
30	chr14:36989550-36989600	HNPCEpiC	eye:	n/a
31	chr14:36989550-36989600	Caco-2	colon:	n/a
32	chr14:36989588-36989638	K562	blood:	n/a
33	chr14:36989588-36989638	A549	lung:	n/a
34	chr14:36989588-36989638	HMEC	breast:	n/a
35	chr14:36989588-36989638	HPAEpiC	pulmonary alveolar:	n/a
36	chr14:36989550-36989600	U87	brain:	n/a
37	chr14:36989588-36989638	GM06990	blood:	n/a
38	chr14:36989550-36989600	GM12892	blood:	n/a
39	chr14:36989550-36989600	SAEC	small airway:	n/a
40	chr14:36989550-36989600	SK-N-SH	brain:	n/a
41	chr14:36989550-36989600	ECC-1	luminal epithelium:	n/a
42	chr14:36989550-36989600	NT2-D1	testis:	n/a
43	chr14:36989550-36989600	SK-N-SH_RA	brain:	n/a
44	chr14:36989550-36989600	IMR90	lung:	fetal
45	chr14:36989550-36989600	HCPEpiC	choroid plexus:	n/a
46	chr14:36989550-36989600	HCF	heart:	n/a
47	chr14:36989550-36989600	HRE	kidney:	n/a
48	chr14:36989588-36989638	SK-N-SH_RA	brain:	n/a
49	chr14:36989588-36989638	Hela-S3	cervix:	n/a
50	chr14:36989588-36989638	HL-60	blood:	n/a

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11623992	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895406	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71409598	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	esv15094	chr14:36986331-36990958	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv564346	chr14:36988010-36989849	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36981400-36991200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:36986400-36989800	Enhancers	Gastric	stomach
3	chr14:36986400-36989800	Enhancers	Pancreas	Pancrea
4	chr14:36987800-36989800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:36988000-36989600	Active TSS	Right Atrium	heart
6	chr14:36988000-36990400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:36988200-36989600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:36988200-36989600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr14:36988200-36989800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
10	chr14:36988200-36990000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
11	chr14:36988200-36990200	Bivalent/Poised TSS	HSMM	muscle
12	chr14:36988200-36990400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr14:36988200-36990400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:36988200-36990400	Bivalent Enhancer	Placenta	Placenta
15	chr14:36988200-36990600	Bivalent/Poised TSS	Fetal Lung	lung
16	chr14:36988400-36989600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:36988400-36989600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:36988400-36990400	Bivalent Enhancer	HUVEC	blood vessel
19	chr14:36988400-36990600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr14:36988400-36991000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
21	chr14:36988600-36989600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:36988600-36989800	Bivalent/Poised TSS	Right Ventricle	heart
23	chr14:36988600-36990000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr14:36988600-36990200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr14:36988800-36989600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr14:36988800-36989600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:36988800-36989800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:36988800-36989800	Active TSS	Ovary	ovary
29	chr14:36988800-36990400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr14:36988800-36990400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:36988800-36990400	Bivalent Enhancer	Left Ventricle	heart
32	chr14:36988800-36990400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
33	chr14:36988800-36990400	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr14:36988800-36991200	Bivalent Enhancer	Fetal Stomach	stomach
35	chr14:36989000-36989600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:36989000-36989600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr14:36989000-36989800	Bivalent Enhancer	Brain Substantia Nigra	brain
38	chr14:36989000-36990400	Bivalent/Poised TSS	A549	lung
39	chr14:36989200-36989600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:36989200-36989600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr14:36989200-36989600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
42	chr14:36989200-36989600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
43	chr14:36989200-36989600	Bivalent Enhancer	Fetal Intestine Small	intestine
44	chr14:36989200-36989600	Flanking Active TSS	Lung	lung
45	chr14:36989200-36989600	Flanking Bivalent TSS/Enh	HMEC	breast
46	chr14:36989200-36989800	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr14:36989200-36989800	Bivalent/Poised TSS	HepG2	liver
48	chr14:36989200-36990000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr14:36989200-36990000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:36989200-36990200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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