Variant report

Variant	rs143814256
Chromosome Location	chr14:21567336-21567337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21566713-21567429	MCF10A-Er-Src	breast:	n/a	n/a
2	MAX	chr14:21567174-21567355	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:21566661-21567343	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:21566611-21567376	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:21567305-21567501	IMR90	lung:	n/a	n/a
6	POLR2A	chr14:21566628-21567374	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:21566727-21567447	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr14:21566603-21567338	SK-N-MC	brain:	n/a	n/a
9	MAZ	chr14:21565837-21567596	IMR90	lung:	n/a	chr14:21565867-21565877 chr14:21566942-21566952 chr14:21567574-21567581
10	MYC	chr14:21566907-21567470	MCF10A-Er-Src	breast:	n/a	chr14:21566942-21566952
11	GATA2	chr14:21566701-21567565	SH-SY5Y	brain:	n/a	n/a
12	TCF12	chr14:21566625-21567400	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21567333-21567383	AG09309	skin:	n/a
2	chr14:21567333-21567383	GM12892	blood:	n/a
3	chr14:21567333-21567383	PrEC	prostate:	n/a
4	chr14:21567333-21567383	CMK	blood:	n/a
5	chr14:21567333-21567383	ovcar-3	ovarian:	n/a
6	chr14:21567333-21567383	HAEpiC	amniotic membrane:	n/a
7	chr14:21567333-21567383	NHBE	bronchial:	n/a
8	chr14:21567333-21567383	SK-N-SH_RA	brain:	n/a
9	chr14:21567333-21567383	T-47D	breast:	n/a
10	chr14:21567333-21567383	NT2-D1	testis:	n/a
11	chr14:21567333-21567383	AG09319	gingival:	n/a
12	chr14:21567333-21567383	HPAEpiC	pulmonary alveolar:	n/a
13	chr14:21567333-21567383	HCM	heart:	n/a
14	chr14:21567333-21567383	IMR90	lung:	fetal
15	chr14:21567333-21567383	HRE	kidney:	n/a
16	chr14:21567333-21567383	HIPEpiC	eye:	n/a
17	chr14:21567333-21567383	LNCaP	prostate:	n/a
18	chr14:21567333-21567383	AG10803	skin:	n/a
19	chr14:21567333-21567383	HRPEpiC	eye:	n/a
20	chr14:21567333-21567383	SK-N-SH	brain:	n/a
21	chr14:21567333-21567383	HepG2	liver:	n/a
22	chr14:21567333-21567383	GM19239	blood:	n/a
23	chr14:21567333-21567383	K562	blood:	n/a
24	chr14:21567333-21567383	PFSK-1	brain:	n/a
25	chr14:21567333-21567383	GM12891	blood:	n/a
26	chr14:21567333-21567383	HMEC	breast:	n/a
27	chr14:21567333-21567383	GM12878	blood:	n/a
28	chr14:21567333-21567383	SKMC	muscle:	n/a
29	chr14:21567333-21567383	Hela-S3	cervix:	n/a
30	chr14:21567333-21567383	Caco-2	colon:	n/a
31	chr14:21567333-21567383	GM06990	blood:	n/a
32	chr14:21567333-21567383	SK-N-MC	brain:	n/a
33	chr14:21567333-21567383	MCF10A-Er-Src	breast:	n/a
34	chr14:21567333-21567383	BJ	skin:	n/a
35	chr14:21567333-21567383	BE2_C	brain:	n/a
36	chr14:21567333-21567383	RPTEC	kidney:	n/a
37	chr14:21567333-21567383	AG04449	skin:	fetal
38	chr14:21567333-21567383	HCF	heart:	n/a
39	chr14:21567333-21567383	H1-hESC	embryonic stem cell:	embryo
40	chr14:21567333-21567383	HL-60	blood:	n/a
41	chr14:21567333-21567383	U87	brain:	n/a
42	chr14:21567333-21567383	PANC-1	pancreas:	n/a
43	chr14:21567333-21567383	A549	lung:	n/a
44	chr14:21567333-21567383	NB4	blood:	n/a
45	chr14:21567333-21567383	MCF-7	breast:	n/a
46	chr14:21567333-21567383	Hepatocyte	liver:	n/a
47	chr14:21567333-21567383	SAEC	small airway:	n/a
48	chr14:21567333-21567383	HCPEpiC	choroid plexus:	n/a
49	chr14:21567333-21567383	HRCEpiC	kidney:	n/a
50	chr14:21567333-21567383	HUVEC	blood vessel:	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
ZNF219	TF binding region
TMEM253	TF binding region
TMEM253	CpG island
ZNF219	CpG island
ENSG00000165795	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000091009	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:126 , 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	chr14:21565400-21567400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:21565400-21568000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr14:21565600-21567400	Active TSS	Right Ventricle	heart
7	chr14:21565600-21567400	Active TSS	Hela-S3	cervix
8	chr14:21565600-21567600	Active TSS	Aorta	Aorta
9	chr14:21565600-21567600	Active TSS	Esophagus	oesophagus
10	chr14:21565600-21567800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr14:21565600-21567800	Active TSS	Right Atrium	heart
12	chr14:21565800-21567400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:21565800-21567400	Active TSS	Lung	lung
14	chr14:21565800-21567400	Active TSS	Ovary	ovary
15	chr14:21565800-21567600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:21565800-21567600	Active TSS	Colonic Mucosa	Colon
17	chr14:21566000-21567400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:21566000-21567400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:21566000-21567400	Active TSS	Psoas Muscle	Psoas
20	chr14:21566000-21567400	Active TSS	Small Intestine	intestine
21	chr14:21566000-21567600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:21566000-21567600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:21566000-21567600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:21566000-21570400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:21566200-21567400	Active TSS	Left Ventricle	heart
26	chr14:21566400-21567400	Bivalent/Poised TSS	GM12878-XiMat	blood
27	chr14:21566600-21567600	Active TSS	A549	lung
28	chr14:21566800-21567400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr14:21566800-21567400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr14:21566800-21567400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr14:21566800-21567400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr14:21566800-21567400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:21566800-21567400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr14:21566800-21567400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
35	chr14:21566800-21567400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:21566800-21567400	Active TSS	Brain Cingulate Gyrus	brain
37	chr14:21566800-21567400	Active TSS	Colon Smooth Muscle	Colon
38	chr14:21566800-21567400	Active TSS	Fetal Kidney	kidney
39	chr14:21566800-21567600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr14:21566800-21567600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:21566800-21567600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:21566800-21567600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
43	chr14:21566800-21567600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr14:21566800-21567800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:21566800-21567800	Enhancers	Spleen	Spleen
46	chr14:21567000-21567400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr14:21567000-21567400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:21567000-21567400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr14:21567000-21567400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:21567000-21567400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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