Variant report

Variant	rs369147747
Chromosome Location	chr14:65016520-65016521
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:65016435-65016712	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr14:65015787-65016676	Hela-S3	cervix:	n/a	n/a
3	MAX	chr14:65016507-65016901	A549	lung:	n/a	n/a
4	MAX	chr14:65016460-65016902	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:65016326-65016680	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr14:65016419-65016767	Hela-S3	cervix:	n/a	n/a
7	HA-E2F1	chr14:65016447-65016870	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:65016456-65016883	H1-hESC	embryonic stem cell:	n/a	n/a
9	TFAP2A	chr14:65016306-65016943	Hela-S3	cervix:	n/a	chr14:65016643-65016651 chr14:65016896-65016904 chr14:65016643-65016651 chr14:65016643-65016651 chr14:65016896-65016904 chr14:65016896-65016904
10	MAX	chr14:65016468-65017093	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAFK	chr14:65016509-65016826	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr14:65015748-65016753	Hela-S3	cervix:	n/a	chr14:65015925-65015936
13	TAF1	chr14:65016435-65016857	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr14:65016465-65016824	H1-hESC	embryonic stem cell:	n/a	chr14:65016596-65016610
15	RFX5	chr14:65016345-65016755	Hela-S3	cervix:	n/a	n/a
16	MAX	chr14:65016382-65016914	A549	lung:	n/a	n/a
17	POLR2A	chr14:65016394-65016733	Hela-S3	cervix:	n/a	n/a
18	RAD21	chr14:65016472-65016752	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF7L2	chr14:65016474-65016684	Hela-S3	cervix:	n/a	n/a
20	TBP	chr14:65016358-65016604	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr14:65016418-65016760	Hela-S3	cervix:	n/a	chr14:65016637-65016647 chr14:65016625-65016635
22	TAF7	chr14:65016443-65016794	H1-hESC	embryonic stem cell:	n/a	n/a
23	SMC3	chr14:65016222-65016740	Hela-S3	cervix:	n/a	n/a
24	MAZ	chr14:65016516-65016783	Hela-S3	cervix:	n/a	n/a
25	RAD21	chr14:65016476-65016638	Hela-S3	cervix:	n/a	n/a
26	TFAP2C	chr14:65016191-65016972	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr14:65016277-65016871	A549	lung:	n/a	n/a
28	POLR2A	chr14:65016253-65016917	Hela-S3	cervix:	n/a	n/a
29	E2F1	chr14:65016451-65016831	Hela-S3	cervix:	n/a	n/a
30	UBTF	chr14:65016464-65016720	K562	blood:	n/a	n/a
31	HA-E2F1	chr14:65016336-65016984	MCF-7	breast:	n/a	n/a
32	ELK4	chr14:65016252-65016764	Hela-S3	cervix:	n/a	n/a
33	E2F6	chr14:65016431-65016947	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr14:65016344-65016854	Hela-S3	cervix:	n/a	n/a
35	RCOR1	chr14:65016450-65016650	Hela-S3	cervix:	n/a	n/a
36	E2F6	chr14:65016482-65017304	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr14:65016400-65017057	MCF-7	breast:	n/a	n/a
38	POLR2A	chr14:65016441-65016680	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65016517-65016567	ovcar-3	ovarian:	n/a
2	chr14:65016517-65016567	NT2-D1	testis:	n/a
3	chr14:65016517-65016567	HEEpiC	esophagus:	n/a
4	chr14:65016517-65016567	HCPEpiC	choroid plexus:	n/a
5	chr14:65016517-65016567	AG04449	skin:	fetal
6	chr14:65016517-65016567	HepG2	liver:	n/a
7	chr14:65016517-65016567	HRPEpiC	eye:	n/a
8	chr14:65016517-65016567	H1-hESC	embryonic stem cell:	embryo
9	chr14:65016517-65016567	Caco-2	colon:	n/a
10	chr14:65016517-65016567	NB4	blood:	n/a
11	chr14:65016517-65016567	PFSK-1	brain:	n/a
12	chr14:65016517-65016567	HCF	heart:	n/a
13	chr14:65016517-65016567	NHBE	bronchial:	n/a
14	chr14:65016517-65016567	NH-A	brain:	n/a
15	chr14:65016517-65016567	HPAEpiC	pulmonary alveolar:	n/a
16	chr14:65016517-65016567	AG10803	skin:	n/a
17	chr14:65016517-65016567	GM12878	blood:	n/a
18	chr14:65016517-65016567	K562	blood:	n/a
19	chr14:65016517-65016567	BE2_C	brain:	n/a
20	chr14:65016517-65016567	PANC-1	pancreas:	n/a
21	chr14:65016517-65016567	HRE	kidney:	n/a
22	chr14:65016517-65016567	HUVEC	blood vessel:	n/a
23	chr14:65016517-65016567	GM19239	blood:	n/a
24	chr14:65016517-65016567	MCF-7	breast:	n/a
25	chr14:65016517-65016567	SK-N-MC	brain:	n/a
26	chr14:65016517-65016567	AG09319	gingival:	n/a
27	chr14:65016517-65016567	SKMC	muscle:	n/a
28	chr14:65016517-65016567	IMR90	lung:	fetal
29	chr14:65016517-65016567	CMK	blood:	n/a
30	chr14:65016517-65016567	MCF10A-Er-Src	breast:	n/a
31	chr14:65016517-65016567	GM12891	blood:	n/a
32	chr14:65016517-65016567	HNPCEpiC	eye:	n/a
33	chr14:65016517-65016567	HMEC	breast:	n/a
34	chr14:65016517-65016567	ECC-1	luminal epithelium:	n/a
35	chr14:65016517-65016567	LNCaP	prostate:	n/a
36	chr14:65016517-65016567	AG09309	skin:	n/a
37	chr14:65016517-65016567	AG04450	lung:	fetal
38	chr14:65016517-65016567	ProgFib	skin:	n/a
39	chr14:65016517-65016567	HEK293	kidney:	embryo
40	chr14:65016517-65016567	A549	lung:	n/a
41	chr14:65016517-65016567	SK-N-SH_RA	brain:	n/a
42	chr14:65016517-65016567	GM12892	blood:	n/a
43	chr14:65016517-65016567	Hepatocyte	liver:	n/a
44	chr14:65016517-65016567	Hela-S3	cervix:	n/a
45	chr14:65016517-65016567	Jurkat	blood:	n/a
46	chr14:65016517-65016567	RPTEC	kidney:	n/a
47	chr14:65016517-65016567	SAEC	small airway:	n/a
48	chr14:65016517-65016567	HCT-116	colon:	n/a
49	chr14:65016517-65016567	T-47D	breast:	n/a
50	chr14:65016517-65016567	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
2	chr14:65006961..65009286-chr14:65016299..65018796,2	K562	blood:
3	chr14:64971147..64972847-chr14:65015662..65018406,2	MCF-7	breast:
4	chr14:65015799..65018122-chr20:55818007..55820214,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1R36	TF binding region
PPP1R36	CpG island
ENSG00000259116	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564907	chr14:65011509-65018663	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv12236	chr14:65014784-65020415	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv442343	chr14:65015653-65019529	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv564908	chr14:65015655-65017474	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv564909	chr14:65015655-65020267	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65009400-65016600	Weak transcription	Gastric	stomach
2	chr14:65010400-65016600	Weak transcription	Aorta	Aorta
3	chr14:65012000-65016600	Weak transcription	Brain Angular Gyrus	brain
4	chr14:65013800-65016600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:65015800-65017200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:65016000-65016600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
7	chr14:65016000-65017000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr14:65016000-65017200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr14:65016000-65017200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr14:65016000-65017200	Bivalent Enhancer	Fetal Lung	lung
11	chr14:65016200-65016600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr14:65016200-65016600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:65016200-65016600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:65016200-65016600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:65016200-65016600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr14:65016200-65016600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
17	chr14:65016200-65016600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr14:65016200-65016600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr14:65016200-65016600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:65016200-65016600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:65016200-65016600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr14:65016200-65016600	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr14:65016200-65016600	Active TSS	Brain Cingulate Gyrus	brain
24	chr14:65016200-65016600	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr14:65016200-65016600	Enhancers	Esophagus	oesophagus
26	chr14:65016200-65016600	Bivalent Enhancer	Fetal Kidney	kidney
27	chr14:65016200-65016600	Enhancers	Placenta	Placenta
28	chr14:65016200-65016600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr14:65016200-65016600	Active TSS	Right Ventricle	heart
30	chr14:65016200-65016600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr14:65016200-65016600	Enhancers	HSMM	muscle
32	chr14:65016200-65016800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:65016200-65016800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:65016200-65016800	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr14:65016200-65017000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:65016200-65017000	Enhancers	HMEC	breast
37	chr14:65016200-65017200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
38	chr14:65016200-65017200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr14:65016200-65017200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:65016200-65017200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr14:65016200-65017200	Flanking Active TSS	Hela-S3	cervix
42	chr14:65016200-65017400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:65016200-65017400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:65016200-65017400	Bivalent Enhancer	Liver	Liver
45	chr14:65016200-65017400	Bivalent Enhancer	Fetal Thymus	thymus
46	chr14:65016200-65017400	Enhancers	Spleen	Spleen
47	chr14:65016200-65017400	Flanking Active TSS	NHEK	skin
48	chr14:65016200-65017600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr14:65016400-65016600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:65016400-65016600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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