Variant report

Variant	rs560414156
Chromosome Location	chr14:36989850-36989851
allele	C/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	POLR2A	chr14:36989661-36991004	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr14:36989841-36990099	Gliobla	brain:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
3	CTCF	chr14:36989840-36989990	HPF	lung:	n/a	chr14:36989958-36989971
4	MYC	chr14:36989760-36990002	MCF-7	breast:	n/a	n/a
5	MAX	chr14:36989665-36990178	A549	lung:	n/a	n/a
6	CTCF	chr14:36989820-36989970	HFF	foreskin:	n/a	n/a
7	CTCF	chr14:36989820-36989970	HVMF	connective:	n/a	n/a
8	MAZ	chr14:36989807-36990137	HepG2	liver:	n/a	n/a
9	UBTF	chr14:36989819-36990127	K562	blood:	n/a	n/a
10	CTCF	chr14:36989826-36990093	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
11	CTCF	chr14:36989840-36990095	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
12	BACH1	chr14:36989745-36989957	H1-hESC	embryonic stem cell:	n/a	n/a
13	ELF1	chr14:36989843-36990063	K562	blood:	n/a	chr14:36990038-36990047
14	YY1	chr14:36989698-36990162	HepG2	liver:	n/a	chr14:36990038-36990047 chr14:36990039-36990053
15	SIN3A	chr14:36989802-36990174	H1-hESC	embryonic stem cell:	n/a	chr14:36989810-36989819
16	RAD21	chr14:36989817-36990178	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr14:36989840-36989990	GM12869	blood:	n/a	chr14:36989958-36989971
18	CTCF	chr14:36989840-36989990	A549	lung:	n/a	chr14:36989958-36989971
19	CTCF	chr14:36989840-36989990	GM12868	blood:	n/a	chr14:36989958-36989971
20	CTCF	chr14:36989832-36990138	K562	blood:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
21	SUZ12	chr14:36981170-36992861	NT2-D1	testis:	n/a	n/a
22	KAP1	chr14:36989807-36990107	HEK293	kidney:	n/a	n/a
23	E2F6	chr14:36989796-36990075	A549	lung:	n/a	chr14:36989958-36989968 chr14:36990013-36990025
24	CTCF	chr14:36989727-36990250	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
25	CTCF	chr14:36989800-36989950	GM12866	blood:	n/a	n/a
26	MAX	chr14:36989686-36990062	ECC-1	luminal epithelium:	n/a	n/a
27	ELF1	chr14:36989784-36990033	HepG2	liver:	n/a	n/a
28	MAX	chr14:36989816-36990043	A549	lung:	n/a	n/a
29	CTCF	chr14:36989815-36990135	K562	blood:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
30	CTCF	chr14:36989848-36990088	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
31	SMC3	chr14:36989850-36990108	Hela-S3	cervix:	n/a	chr14:36989977-36989987 chr14:36989976-36989990
32	CTCF	chr14:36989820-36989970	AG04450	lung:	n/a	n/a
33	EGR1	chr14:36989695-36990123	H1-hESC	embryonic stem cell:	n/a	chr14:36990036-36990049
34	CTCF	chr14:36989800-36989950	GM12872	blood:	n/a	n/a
35	CTCF	chr14:36989840-36989990	NB4	blood:	n/a	chr14:36989958-36989971
36	CTCF	chr14:36989184-36990314	A549	lung:	n/a	chr14:36989542-36989555 chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
37	TCF12	chr14:36989815-36990033	H1-hESC	embryonic stem cell:	n/a	chr14:36989997-36990004
38	CTCF	chr14:36989733-36990127	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
39	RFX5	chr14:36989797-36990101	Hela-S3	cervix:	n/a	chr14:36989931-36989940 chr14:36989927-36989942
40	CTBP2	chr14:36987100-36990550	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr14:36989645-36990404	MCF-7	breast:	n/a	chr14:36989651-36989661
42	MBD4	chr14:36989685-36990158	HepG2	liver:	n/a	n/a
43	RAD21	chr14:36989840-36990065	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr14:36989844-36990114	IMR90	lung:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
45	MAX	chr14:36989633-36990229	A549	lung:	n/a	chr14:36989651-36989661
46	ZNF143	chr14:36989811-36990183	H1-hESC	embryonic stem cell:	n/a	chr14:36990040-36990050
47	POLR2A	chr14:36989732-36990737	H1-neurons	neurons:	n/a	n/a
48	CTCF	chr14:36989838-36990086	MCF-7	breast:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971
49	SUZ12	chr14:36985791-36990585	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr14:36989839-36990103	K562	blood:	n/a	chr14:36989974-36989992 chr14:36989975-36989991 chr14:36989958-36989971

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:36989850-36989900	NH-A	brain:	n/a
2	chr14:36989850-36989900	SK-N-SH	brain:	n/a
3	chr14:36989850-36989900	AoSMC	blood vessel:	n/a
4	chr14:36989850-36989900	HEK293	kidney:	embryo
5	chr14:36989850-36989900	HCPEpiC	choroid plexus:	n/a
6	chr14:36989850-36989900	NHBE	bronchial:	n/a
7	chr14:36989850-36989900	NT2-D1	testis:	n/a
8	chr14:36989850-36989900	HRE	kidney:	n/a
9	chr14:36989850-36989900	Hepatocyte	liver:	n/a
10	chr14:36989850-36989900	BE2_C	brain:	n/a
11	chr14:36989850-36989900	Hela-S3	cervix:	n/a
12	chr14:36989850-36989900	HCT-116	colon:	n/a
13	chr14:36989850-36989900	SAEC	small airway:	n/a
14	chr14:36989850-36989900	MCF10A-Er-Src	breast:	n/a
15	chr14:36989850-36989900	GM12878	blood:	n/a
16	chr14:36989850-36989900	SKMC	muscle:	n/a
17	chr14:36989850-36989900	HEEpiC	esophagus:	n/a
18	chr14:36989850-36989900	NHDF-neo	bronchial:	n/a
19	chr14:36989850-36989900	K562	blood:	n/a
20	chr14:36989850-36989900	SK-N-SH_RA	brain:	n/a
21	chr14:36989850-36989900	LNCaP	prostate:	n/a
22	chr14:36989850-36989900	ECC-1	luminal epithelium:	n/a
23	chr14:36989850-36989900	T-47D	breast:	n/a
24	chr14:36989850-36989900	GM19239	blood:	n/a
25	chr14:36989850-36989900	GM12891	blood:	n/a
26	chr14:36989850-36989900	HIPEpiC	eye:	n/a
27	chr14:36989850-36989900	U87	brain:	n/a
28	chr14:36989850-36989900	A549	lung:	n/a
29	chr14:36989850-36989900	HepG2	liver:	n/a
30	chr14:36989850-36989900	SK-N-MC	brain:	n/a
31	chr14:36989850-36989900	GM12892	blood:	n/a
32	chr14:36989850-36989900	HPAEpiC	pulmonary alveolar:	n/a
33	chr14:36989850-36989900	AG10803	skin:	n/a
34	chr14:36989850-36989900	AG04449	skin:	fetal
35	chr14:36989850-36989900	PANC-1	pancreas:	n/a
36	chr14:36989850-36989900	HMEC	breast:	n/a
37	chr14:36989850-36989900	HUVEC	blood vessel:	n/a
38	chr14:36989850-36989900	HCF	heart:	n/a
39	chr14:36989850-36989900	Jurkat	blood:	n/a
40	chr14:36989850-36989900	HRPEpiC	eye:	n/a
41	chr14:36989850-36989900	GM06990	blood:	n/a
42	chr14:36989850-36989900	RPTEC	kidney:	n/a
43	chr14:36989850-36989900	IMR90	lung:	fetal
44	chr14:36989850-36989900	AG09309	skin:	n/a
45	chr14:36989850-36989900	HL-60	blood:	n/a
46	chr14:36989850-36989900	BJ	skin:	n/a
47	chr14:36989850-36989900	AG09319	gingival:	n/a
48	chr14:36989850-36989900	MCF-7	breast:	n/a
49	chr14:36989850-36989900	PrEC	prostate:	n/a
50	chr14:36989850-36989900	H1-hESC	embryonic stem cell:	embryo

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: 9 )
Associated
traits (count: 0)

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	esv3378177	chr14:36989603-36989894	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 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	chr14:36988000-36990400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:36988200-36990000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
4	chr14:36988200-36990200	Bivalent/Poised TSS	HSMM	muscle
5	chr14:36988200-36990400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr14:36988200-36990400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:36988200-36990400	Bivalent Enhancer	Placenta	Placenta
8	chr14:36988200-36990600	Bivalent/Poised TSS	Fetal Lung	lung
9	chr14:36988400-36990400	Bivalent Enhancer	HUVEC	blood vessel
10	chr14:36988400-36990600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr14:36988400-36991000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr14:36988600-36990000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:36988600-36990200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr14:36988800-36990400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr14:36988800-36990400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:36988800-36990400	Bivalent Enhancer	Left Ventricle	heart
17	chr14:36988800-36990400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr14:36988800-36990400	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr14:36988800-36991200	Bivalent Enhancer	Fetal Stomach	stomach
20	chr14:36989000-36990400	Bivalent/Poised TSS	A549	lung
21	chr14:36989200-36990000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr14:36989200-36990000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:36989200-36990200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:36989200-36991200	Bivalent Enhancer	Fetal Brain Male	brain
25	chr14:36989400-36990000	Bivalent Enhancer	Liver	Liver
26	chr14:36989400-36990000	Bivalent Enhancer	Colon Smooth Muscle	Colon
27	chr14:36989400-36990200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr14:36989400-36990200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:36989400-36990200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:36989400-36990400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:36989400-36990600	Active TSS	Aorta	Aorta
32	chr14:36989400-36990600	Bivalent Enhancer	Brain Angular Gyrus	brain
33	chr14:36989400-36990600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr14:36989400-36991000	Enhancers	Spleen	Spleen
35	chr14:36989400-36992600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr14:36989600-36990000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:36989600-36990000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:36989600-36990000	Active TSS	Primary hematopoietic stem cells	blood
39	chr14:36989600-36990000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr14:36989600-36990000	Flanking Active TSS	Right Atrium	heart
41	chr14:36989600-36990800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:36989600-36991600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
43	chr14:36989800-36990000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr14:36989800-36990000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:36989800-36990000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:36989800-36990000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
47	chr14:36989800-36990000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr14:36989800-36990000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr14:36989800-36990000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
50	chr14:36989800-36990000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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