Variant report

Variant	rs543550818
Chromosome Location	chr14:68141886-68141887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:359)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68140766-68142059	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr14:68141203-68141978	H1-hESC	embryonic stem cell:	n/a	n/a
3	RCOR1	chr14:68140931-68142080	K562	blood:	n/a	n/a
4	CTCF	chr14:68141848-68141898	H1-hESC	embryonic stem cell:	n/a	n/a
5	GABPA	chr14:68141014-68142143	MCF-7	breast:	n/a	n/a
6	MAX	chr14:68141433-68141941	ECC-1	luminal epithelium:	n/a	n/a
7	PML	chr14:68140872-68141948	MCF-7	breast:	n/a	n/a
8	TCF7L2	chr14:68141209-68141954	HCT-116	colon:	n/a	n/a
9	MAZ	chr14:68140691-68141891	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:68140884-68141892	A549	lung:	n/a	n/a
11	RAD21	chr14:68141717-68141972	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr14:68141760-68141962	A549	lung:	n/a	n/a
13	CTCF	chr14:68141764-68141935	MCF-7	breast:	n/a	n/a
14	TBP	chr14:68140671-68141961	K562	blood:	n/a	n/a
15	CTCF	chr14:68141780-68141930	HVMF	connective:	n/a	n/a
16	CHD2	chr14:68140934-68142088	HepG2	liver:	n/a	n/a
17	CTCF	chr14:68141760-68141910	GM06990	blood:	n/a	n/a
18	CTCF	chr14:68141800-68141950	HPAF	blood vessel:	n/a	n/a
19	YY1	chr14:68140899-68141913	K562	blood:	n/a	chr14:68141434-68141448
20	MYC	chr14:68141527-68141926	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:68141760-68141910	GM12873	blood:	n/a	n/a
22	POLR2A	chr14:68140700-68142664	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:68141780-68141930	BJ	skin:	n/a	n/a
24	CTCF	chr14:68141784-68141941	Fibrobl	skin:	n/a	n/a
25	NFATC1	chr14:68141279-68142118	GM12878	blood:	n/a	chr14:68141836-68141850
26	JUND	chr14:68141148-68141951	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr14:68141820-68141970	AG10803	skin:	n/a	n/a
28	HDAC2	chr14:68140687-68142352	MCF-7	breast:	n/a	n/a
29	YY1	chr14:68141488-68141990	SK-N-SH_RA	brain:	n/a	n/a
30	BCL3	chr14:68141084-68142066	A549	lung:	n/a	n/a
31	CTCF	chr14:68141832-68141902	LNCaP	prostate:	n/a	n/a
32	RAD21	chr14:68141726-68141956	HepG2	liver:	n/a	n/a
33	CTCF	chr14:68141800-68141950	HPF	lung:	n/a	n/a
34	CTCF	chr14:68141760-68141910	GM12872	blood:	n/a	n/a
35	CTCF	chr14:68141780-68141930	AG09319	gingival:	n/a	n/a
36	ZBTB7A	chr14:68140901-68142110	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr14:68140887-68141972	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:68140901-68142407	GM18505	blood:	n/a	n/a
39	POLR2A	chr14:68140824-68142103	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr14:68140706-68143131	SK-N-MC	brain:	n/a	n/a
41	CTCF	chr14:68141860-68142010	NHEK	skin:	n/a	n/a
42	CTCF	chr14:68141740-68141890	K562	blood:	n/a	n/a
43	POLR2A	chr14:68140837-68141911	GM12878	blood:	n/a	n/a
44	CTCF	chr14:68141760-68141910	HUVEC	blood vessel:	n/a	n/a
45	ZBTB7A	chr14:68140819-68142026	ECC-1	luminal epithelium:	n/a	n/a
46	SIN3AK20	chr14:68141149-68141989	A549	lung:	n/a	n/a
47	CTCF	chr14:68141760-68141910	HMF	breast:	n/a	n/a
48	ELK4	chr14:68141149-68141896	Hela-S3	cervix:	n/a	n/a
49	MAX	chr14:68141362-68142352	A549	lung:	n/a	n/a
50	CTCF	chr14:68141565-68141945	Spleen_OC	spleen:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68141881-68141931	HCPEpiC	choroid plexus:	n/a
2	chr14:68141881-68141931	AG04450	lung:	fetal
3	chr14:68141881-68141931	HNPCEpiC	eye:	n/a
4	chr14:68141881-68141931	SK-N-SH_RA	brain:	n/a
5	chr14:68141881-68141931	IMR90	lung:	fetal
6	chr14:68141881-68141931	HepG2	liver:	n/a
7	chr14:68141881-68141931	K562	blood:	n/a
8	chr14:68141881-68141931	AG10803	skin:	n/a
9	chr14:68141881-68141931	HAEpiC	amniotic membrane:	n/a
10	chr14:68141881-68141931	NB4	blood:	n/a
11	chr14:68141881-68141931	ProgFib	skin:	n/a
12	chr14:68141881-68141931	SK-N-MC	brain:	n/a
13	chr14:68141881-68141931	RPTEC	kidney:	n/a
14	chr14:68141881-68141931	HIPEpiC	eye:	n/a
15	chr14:68141881-68141931	HEEpiC	esophagus:	n/a
16	chr14:68141881-68141931	H1-hESC	embryonic stem cell:	embryo
17	chr14:68141881-68141931	Hepatocyte	liver:	n/a
18	chr14:68141881-68141931	A549	lung:	n/a
19	chr14:68141881-68141931	HEK293	kidney:	embryo
20	chr14:68141881-68141931	MCF10A-Er-Src	breast:	n/a
21	chr14:68141881-68141931	HL-60	blood:	n/a
22	chr14:68141881-68141931	Hela-S3	cervix:	n/a
23	chr14:68141881-68141931	NT2-D1	testis:	n/a
24	chr14:68141881-68141931	GM19239	blood:	n/a
25	chr14:68141881-68141931	MCF-7	breast:	n/a
26	chr14:68141881-68141931	HCM	heart:	n/a
27	chr14:68141881-68141931	CMK	blood:	n/a
28	chr14:68141881-68141931	HPAEpiC	pulmonary alveolar:	n/a
29	chr14:68141881-68141931	HRCEpiC	kidney:	n/a
30	chr14:68141881-68141931	PrEC	prostate:	n/a
31	chr14:68141881-68141931	HCT-116	colon:	n/a
32	chr14:68141881-68141931	ovcar-3	ovarian:	n/a
33	chr14:68141881-68141931	ECC-1	luminal epithelium:	n/a
34	chr14:68141881-68141931	GM06990	blood:	n/a
35	chr14:68141881-68141931	AoSMC	blood vessel:	n/a
36	chr14:68141881-68141931	Caco-2	colon:	n/a
37	chr14:68141881-68141931	AG09309	skin:	n/a
38	chr14:68141881-68141931	AG04449	skin:	fetal
39	chr14:68141881-68141931	AG09319	gingival:	n/a
40	chr14:68141881-68141931	SK-N-SH	brain:	n/a
41	chr14:68141881-68141931	BJ	skin:	n/a
42	chr14:68141881-68141931	PANC-1	pancreas:	n/a
43	chr14:68141881-68141931	GM12878	blood:	n/a
44	chr14:68141881-68141931	NH-A	brain:	n/a
45	chr14:68141881-68141931	HRPEpiC	eye:	n/a
46	chr14:68141881-68141931	GM12891	blood:	n/a
47	chr14:68141881-68141931	SAEC	small airway:	n/a
48	chr14:68141881-68141931	GM12892	blood:	n/a
49	chr14:68141881-68141931	Jurkat	blood:	n/a
50	chr14:68141881-68141931	SKMC	muscle:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68140439..68142137-chr14:69262660..69264249,2	MCF-7	breast:
2	chr14:68140783..68142478-chr14:70233794..70235436,2	MCF-7	breast:
3	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
4	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
5	chr14:68139549..68141968-chr9:127622752..127624278,2	MCF-7	breast:
6	chr14:67825454..67827897-chr14:68140364..68142418,2	MCF-7	breast:
7	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
8	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
9	chr14:68084959..68087068-chr14:68141857..68143794,2	K562	blood:
10	chr14:68141666..68146397-chr14:68146586..68151737,7	K562	blood:
11	chr14:68065544..68068481-chr14:68141245..68142843,2	K562	blood:
12	chr1:149856880..149859057-chr14:68139799..68142421,2	MCF-7	breast:
13	chr14:68084933..68087068-chr14:68140888..68143794,2	K562	blood:
14	chr14:68123842..68128225-chr14:68139646..68143249,5	MCF-7	breast:
15	chr14:68064718..68068935-chr14:68139775..68143920,7	MCF-7	breast:
16	chr14:68111577..68114735-chr14:68140017..68142397,5	MCF-7	breast:
17	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
18	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
19	chr14:67825002..67827453-chr14:68141571..68143576,2	K562	blood:

No data

Variant related genes	Relation type
VTI1B	TF binding region
VTI1B	CpG island
ENSG00000184678	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000272253	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000241542	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000136942	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000100564	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68139600-68142000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:68139600-68142400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:68139600-68142400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr14:68139600-68142400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:68139600-68142600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:68139600-68142600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:68139800-68142200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:68139800-68142200	Active TSS	Ovary	ovary
9	chr14:68139800-68142200	Active TSS	NHDF-Ad	bronchial
10	chr14:68139800-68142600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:68140000-68142000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:68140000-68142200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:68140000-68142200	Active TSS	Right Atrium	heart
14	chr14:68140200-68142000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:68140200-68142000	Active TSS	Right Ventricle	heart
16	chr14:68140200-68142200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:68140200-68142200	Active TSS	HSMM	muscle
18	chr14:68140200-68142200	Active TSS	NHLF	lung
19	chr14:68140200-68142400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:68140200-68142400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr14:68140200-68142400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:68140200-68142400	Active TSS	A549	lung
23	chr14:68140400-68142000	Active TSS	Aorta	Aorta
24	chr14:68140400-68142000	Active TSS	Esophagus	oesophagus
25	chr14:68140400-68142000	Active TSS	Fetal Intestine Large	intestine
26	chr14:68140400-68142000	Active TSS	Fetal Muscle Trunk	muscle
27	chr14:68140400-68142000	Active TSS	Rectal Smooth Muscle	rectum
28	chr14:68140400-68142000	Active TSS	Small Intestine	intestine
29	chr14:68140400-68142000	Active TSS	K562	blood
30	chr14:68140400-68142200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:68140400-68142200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:68140400-68142200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:68140400-68142200	Active TSS	Fetal Kidney	kidney
34	chr14:68140400-68142200	Active TSS	Left Ventricle	heart
35	chr14:68140400-68142400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr14:68140400-68142400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:68140400-68142400	Active TSS	Gastric	stomach
38	chr14:68140400-68142600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr14:68140600-68142000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr14:68140600-68142000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:68140600-68142000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr14:68140600-68142000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:68140600-68142000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:68140600-68142000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:68140600-68142000	Active TSS	Colonic Mucosa	Colon
46	chr14:68140600-68142000	Active TSS	Fetal Stomach	stomach
47	chr14:68140600-68142000	Active TSS	Pancreas	Pancrea
48	chr14:68140600-68142000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr14:68140600-68142000	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr14:68140600-68142000	Active TSS	HSMMtube	muscle

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