Variant report

Variant	rs551445571
Chromosome Location	chr14:21567195-21567196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:21567064-21567210	HepG2	liver:	n/a	n/a
2	PML	chr14:21566748-21567213	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:21566713-21567429	MCF10A-Er-Src	breast:	n/a	n/a
4	ELF1	chr14:21566697-21567302	MCF-7	breast:	n/a	n/a
5	RCOR1	chr14:21566730-21567231	Hela-S3	cervix:	n/a	n/a
6	MAX	chr14:21567174-21567355	HepG2	liver:	n/a	n/a
7	TEAD4	chr14:21566667-21567279	HepG2	liver:	n/a	n/a
8	ELF1	chr14:21566636-21567214	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:21566661-21567343	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:21566611-21567376	HepG2	liver:	n/a	n/a
11	GABPA	chr14:21566677-21567329	MCF-7	breast:	n/a	n/a
12	POLR2A	chr14:21566491-21567197	H1-neurons	neurons:	n/a	n/a
13	TAF7	chr14:21566605-21567195	H1-hESC	embryonic stem cell:	n/a	n/a
14	NR2F2	chr14:21566609-21567239	MCF-7	breast:	n/a	n/a
15	REST	chr14:21566737-21567197	A549	lung:	n/a	chr14:21566791-21566801
16	POLR2A	chr14:21566628-21567374	Hela-S3	cervix:	n/a	n/a
17	TEAD4	chr14:21566679-21567279	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr14:21566727-21567447	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr14:21566603-21567338	SK-N-MC	brain:	n/a	n/a
20	MAZ	chr14:21566639-21567221	Hela-S3	cervix:	n/a	chr14:21566942-21566952
21	POLR2A	chr14:21566582-21567304	PFSK-1	brain:	n/a	n/a
22	TBL1XR1	chr14:21566923-21567233	K562	blood:	n/a	n/a
23	POLR2A	chr14:21566432-21567231	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr14:21566715-21567215	Hela-S3	cervix:	n/a	n/a
25	MAX	chr14:21566584-21567296	A549	lung:	n/a	chr14:21566942-21566952
26	GATA3	chr14:21566603-21567245	MCF-7	breast:	n/a	n/a
27	MAX	chr14:21566689-21567253	MCF-7	breast:	n/a	chr14:21566942-21566952
28	MAZ	chr14:21565837-21567596	IMR90	lung:	n/a	chr14:21565867-21565877 chr14:21566942-21566952 chr14:21567574-21567581
29	MYC	chr14:21566907-21567470	MCF10A-Er-Src	breast:	n/a	chr14:21566942-21566952
30	HEY1	chr14:21566613-21567236	HepG2	liver:	n/a	n/a
31	MAX	chr14:21566789-21567204	SK-N-SH	brain:	n/a	chr14:21566942-21566952
32	GATA2	chr14:21566701-21567565	SH-SY5Y	brain:	n/a	n/a
33	SP1	chr14:21566751-21567199	A549	lung:	n/a	chr14:21566787-21566797 chr14:21567084-21567098 chr14:21566788-21566797 chr14:21566786-21566798 chr14:21566788-21566797 chr14:21566786-21566798 chr14:21566787-21566796 chr14:21567087-21567099
34	TCF12	chr14:21566625-21567400	A549	lung:	n/a	n/a
35	POLR2A	chr14:21566663-21567249	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21567164-21567214	HNPCEpiC	eye:	n/a
2	chr14:21567164-21567214	HRPEpiC	eye:	n/a
3	chr14:21567164-21567214	GM12891	blood:	n/a
4	chr14:21567164-21567214	SAEC	small airway:	n/a
5	chr14:21567164-21567214	PrEC	prostate:	n/a
6	chr14:21567164-21567214	SK-N-SH	brain:	n/a
7	chr14:21567164-21567214	HCPEpiC	choroid plexus:	n/a
8	chr14:21567164-21567214	T-47D	breast:	n/a
9	chr14:21567164-21567214	PANC-1	pancreas:	n/a
10	chr14:21567164-21567214	ECC-1	luminal epithelium:	n/a
11	chr14:21567164-21567214	GM12878	blood:	n/a
12	chr14:21567164-21567214	LNCaP	prostate:	n/a
13	chr14:21567164-21567214	HL-60	blood:	n/a
14	chr14:21567164-21567214	HCF	heart:	n/a
15	chr14:21567164-21567214	NHDF-neo	bronchial:	n/a
16	chr14:21567164-21567214	MCF10A-Er-Src	breast:	n/a
17	chr14:21567164-21567214	HEK293	kidney:	embryo
18	chr14:21567164-21567214	RPTEC	kidney:	n/a
19	chr14:21567164-21567214	H1-hESC	embryonic stem cell:	embryo
20	chr14:21567164-21567214	HIPEpiC	eye:	n/a
21	chr14:21567164-21567214	BJ	skin:	n/a
22	chr14:21567164-21567214	HAEpiC	amniotic membrane:	n/a
23	chr14:21567164-21567214	A549	lung:	n/a
24	chr14:21567164-21567214	CMK	blood:	n/a
25	chr14:21567164-21567214	GM06990	blood:	n/a
26	chr14:21567164-21567214	HUVEC	blood vessel:	n/a
27	chr14:21567164-21567214	HPAEpiC	pulmonary alveolar:	n/a
28	chr14:21567164-21567214	AoSMC	blood vessel:	n/a
29	chr14:21567164-21567214	NB4	blood:	n/a
30	chr14:21567164-21567214	BE2_C	brain:	n/a
31	chr14:21567164-21567214	IMR90	lung:	fetal
32	chr14:21567164-21567214	AG10803	skin:	n/a
33	chr14:21567164-21567214	NH-A	brain:	n/a
34	chr14:21567164-21567214	SKMC	muscle:	n/a
35	chr14:21567164-21567214	HMEC	breast:	n/a
36	chr14:21567164-21567214	Hepatocyte	liver:	n/a
37	chr14:21567164-21567214	AG04450	lung:	fetal
38	chr14:21567164-21567214	HEEpiC	esophagus:	n/a
39	chr14:21567164-21567214	HRCEpiC	kidney:	n/a
40	chr14:21567164-21567214	AG09319	gingival:	n/a
41	chr14:21567164-21567214	HepG2	liver:	n/a
42	chr14:21567164-21567214	HRE	kidney:	n/a
43	chr14:21567164-21567214	AG04449	skin:	fetal
44	chr14:21567164-21567214	U87	brain:	n/a
45	chr14:21567164-21567214	GM19239	blood:	n/a
46	chr14:21567164-21567214	K562	blood:	n/a
47	chr14:21567164-21567214	NHBE	bronchial:	n/a
48	chr14:21567164-21567214	SK-N-MC	brain:	n/a
49	chr14:21567164-21567214	PFSK-1	brain:	n/a
50	chr14:21567164-21567214	ovcar-3	ovarian:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21538435..21540879-chr14:21565246..21568452,4	K562	blood:
2	chr14:21566818..21567426-chr5:145582956..145583681,2	Hela-S3	cervix:
3	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
4	chr14:21534879..21542621-chr14:21563384..21568050,9	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM253	TF binding region
ZNF219	TF binding region
ZNF219	CpG island
TMEM253	CpG island
ENSG00000165795	Chromatin interaction
ENSG00000091009	Chromatin interaction
ENSG00000165801	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription 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	15 gene(s)	inside rSNPs	diseases
9	esv3490839	chr14:21565112-21567760	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3490842	chr14:21565112-21567760	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3423964	chr14:21565137-21567985	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3324236	chr14:21565662-21567360	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr14:21565000-21567400	Active TSS	Sigmoid Colon	Sigmoid Colon
2	chr14:21565200-21567400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:21565200-21567400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:21565400-21567200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:21565400-21567200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr14:21565400-21567400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:21565400-21568000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr14:21565600-21567200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:21565600-21567200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:21565600-21567200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:21565600-21567200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:21565600-21567200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr14:21565600-21567200	Active TSS	HSMMtube	muscle
14	chr14:21565600-21567400	Active TSS	Right Ventricle	heart
15	chr14:21565600-21567400	Active TSS	Hela-S3	cervix
16	chr14:21565600-21567600	Active TSS	Aorta	Aorta
17	chr14:21565600-21567600	Active TSS	Esophagus	oesophagus
18	chr14:21565600-21567800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:21565600-21567800	Active TSS	Right Atrium	heart
20	chr14:21565800-21567200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:21565800-21567200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr14:21565800-21567200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:21565800-21567200	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr14:21565800-21567200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:21565800-21567200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:21565800-21567200	Active TSS	Brain Germinal Matrix	brain
27	chr14:21565800-21567200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr14:21565800-21567200	Active TSS	Fetal Intestine Large	intestine
29	chr14:21565800-21567200	Active TSS	Pancreas	Pancrea
30	chr14:21565800-21567200	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr14:21565800-21567200	Active TSS	NHEK	skin
32	chr14:21565800-21567400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:21565800-21567400	Active TSS	Lung	lung
34	chr14:21565800-21567400	Active TSS	Ovary	ovary
35	chr14:21565800-21567600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:21565800-21567600	Active TSS	Colonic Mucosa	Colon
37	chr14:21566000-21567200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:21566000-21567200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:21566000-21567200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:21566000-21567200	Active TSS	Brain Anterior Caudate	brain
41	chr14:21566000-21567200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr14:21566000-21567200	Active TSS	Fetal Intestine Small	intestine
43	chr14:21566000-21567200	Active TSS	Fetal Muscle Trunk	muscle
44	chr14:21566000-21567200	Active TSS	Fetal Muscle Leg	muscle
45	chr14:21566000-21567200	Active TSS	Stomach Smooth Muscle	stomach
46	chr14:21566000-21567200	Active TSS	HMEC	breast
47	chr14:21566000-21567400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:21566000-21567400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:21566000-21567400	Active TSS	Psoas Muscle	Psoas
50	chr14:21566000-21567400	Active TSS	Small Intestine	intestine

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