Variant report

Variant	rs563853687
Chromosome Location	chr14:71275538-71275539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:71274832-71276927	GM19193	blood:	n/a	n/a
2	POLR2A	chr14:71275458-71275769	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:71275437-71275851	A549	lung:	n/a	n/a
4	TAF1	chr14:71275433-71275817	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr14:71275445-71275767	SK-N-SH	brain:	n/a	n/a
6	HCFC1	chr14:71274546-71277238	Hela-S3	cervix:	n/a	n/a
7	REST	chr14:71275434-71275861	GM12878	blood:	n/a	n/a
8	ZBTB7A	chr14:71275229-71276892	ECC-1	luminal epithelium:	n/a	n/a
9	MYC	chr14:71275436-71275830	MCF-7	breast:	n/a	n/a
10	REST	chr14:71275401-71275800	U87	brain:	n/a	n/a
11	POLR2A	chr14:71275153-71275784	MCF-7	breast:	n/a	n/a
12	MAX	chr14:71274740-71275874	A549	lung:	n/a	chr14:71275152-71275162
13	POLR2A	chr14:71275472-71275829	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:71275164-71276921	MCF-7	breast:	n/a	n/a
15	NR2F2	chr14:71274809-71277026	MCF-7	breast:	n/a	n/a
16	MAX	chr14:71275353-71275793	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr14:71275276-71275786	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr14:71275451-71275797	A549	lung:	n/a	n/a
19	SIN3AK20	chr14:71274569-71277236	MCF-7	breast:	n/a	n/a
20	POLR2A	chr14:71275431-71275646	HCT-116	colon:	n/a	n/a
21	POLR2A	chr14:71274910-71277014	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:71275224-71275574	ProgFib	skin:	n/a	n/a
23	POLR2A	chr14:71274869-71275774	MCF-7	breast:	n/a	n/a
24	SIN3AK20	chr14:71275472-71275747	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr14:71275403-71275800	U87	brain:	n/a	n/a
26	REST	chr14:71275502-71275778	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr14:71275402-71275695	Gliobla	brain:	n/a	n/a
28	ZNF143	chr14:71275294-71275747	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr14:71274892-71277157	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr14:71275431-71275709	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr14:71274834-71276913	GM18951	blood:	n/a	n/a
32	POLR2A	chr14:71275172-71277088	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:71275289-71275743	A549	lung:	n/a	n/a
34	REST	chr14:71275496-71275715	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr14:71275297-71275694	A549	lung:	n/a	n/a
36	POLR2A	chr14:71275423-71276941	ECC-1	luminal epithelium:	n/a	n/a
37	SIN3AK20	chr14:71275399-71276859	PANC-1	pancreas:	n/a	n/a
38	RCOR1	chr14:71274784-71275826	Hela-S3	cervix:	n/a	n/a
39	TBP	chr14:71275536-71275597	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:71275514-71276935	HEK293	kidney:	n/a	n/a
41	MAX	chr14:71275447-71275903	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr14:71275096-71276929	HepG2	liver:	n/a	n/a
43	REST	chr14:71275453-71275837	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr14:71274925-71275647	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr14:71274916-71276930	Hela-S3	cervix:	n/a	chr14:71276130-71276140
46	CEBPD	chr14:71275306-71275601	HepG2	liver:	n/a	n/a
47	POLR2A	chr14:71274783-71276900	GM12892	blood:	n/a	n/a
48	MAX	chr14:71274553-71277076	MCF-7	breast:	n/a	chr14:71276868-71276877 chr14:71275152-71275162
49	MAX	chr14:71274681-71277091	A549	lung:	n/a	chr14:71276868-71276877 chr14:71275152-71275162
50	ZBTB7A	chr14:71275238-71276508	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:71275530-71275580	MCF-7	breast:	n/a
2	chr14:71275530-71275580	AG09319	gingival:	n/a
3	chr14:71275530-71275580	HNPCEpiC	eye:	n/a
4	chr14:71275530-71275580	ProgFib	skin:	n/a
5	chr14:71275530-71275580	HPAEpiC	pulmonary alveolar:	n/a
6	chr14:71275530-71275580	U87	brain:	n/a
7	chr14:71275530-71275580	NHDF-neo	bronchial:	n/a
8	chr14:71275530-71275580	NB4	blood:	n/a
9	chr14:71275530-71275580	AG09309	skin:	n/a
10	chr14:71275530-71275580	IMR90	lung:	fetal
11	chr14:71275530-71275580	Jurkat	blood:	n/a
12	chr14:71275530-71275580	SK-N-SH_RA	brain:	n/a
13	chr14:71275530-71275580	HUVEC	blood vessel:	n/a
14	chr14:71275530-71275580	ECC-1	luminal epithelium:	n/a
15	chr14:71275530-71275580	HRPEpiC	eye:	n/a
16	chr14:71275530-71275580	BE2_C	brain:	n/a
17	chr14:71275530-71275580	NT2-D1	testis:	n/a
18	chr14:71275530-71275580	NHBE	bronchial:	n/a
19	chr14:71275530-71275580	HIPEpiC	eye:	n/a
20	chr14:71275530-71275580	HMEC	breast:	n/a
21	chr14:71275530-71275580	Hepatocyte	liver:	n/a
22	chr14:71275530-71275580	HCF	heart:	n/a
23	chr14:71275530-71275580	HepG2	liver:	n/a
24	chr14:71275530-71275580	AG04449	skin:	fetal
25	chr14:71275530-71275580	HCPEpiC	choroid plexus:	n/a
26	chr14:71275530-71275580	PANC-1	pancreas:	n/a
27	chr14:71275530-71275580	NH-A	brain:	n/a
28	chr14:71275530-71275580	HRCEpiC	kidney:	n/a
29	chr14:71275530-71275580	HEK293	kidney:	embryo
30	chr14:71275530-71275580	HAEpiC	amniotic membrane:	n/a
31	chr14:71275530-71275580	HL-60	blood:	n/a
32	chr14:71275530-71275580	AG10803	skin:	n/a
33	chr14:71275530-71275580	T-47D	breast:	n/a
34	chr14:71275530-71275580	Caco-2	colon:	n/a
35	chr14:71275530-71275580	H1-hESC	embryonic stem cell:	embryo
36	chr14:71275530-71275580	LNCaP	prostate:	n/a
37	chr14:71275530-71275580	GM12891	blood:	n/a
38	chr14:71275530-71275580	K562	blood:	n/a
39	chr14:71275530-71275580	PFSK-1	brain:	n/a
40	chr14:71275530-71275580	HCT-116	colon:	n/a
41	chr14:71275530-71275580	GM12892	blood:	n/a
42	chr14:71275530-71275580	ovcar-3	ovarian:	n/a
43	chr14:71275530-71275580	MCF10A-Er-Src	breast:	n/a
44	chr14:71275530-71275580	SAEC	small airway:	n/a
45	chr14:71275530-71275580	BJ	skin:	n/a
46	chr14:71275530-71275580	A549	lung:	n/a
47	chr14:71275530-71275580	GM12878	blood:	n/a
48	chr14:71275530-71275580	PrEC	prostate:	n/a
49	chr14:71275530-71275580	AG04450	lung:	fetal
50	chr14:71275530-71275580	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
2	chr14:71076190..71078982-chr14:71275139..71277878,2	MCF-7	breast:
3	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
4	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259153	TF binding region
ENSG00000259153	CpG island
ENSG00000100650	Chromatin interaction
ENSG00000133985	Chromatin interaction
ENSG00000259115	Chromatin interaction
ENSG00000245466	Chromatin interaction
ENSG00000240837	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv3375447	chr14:71274499-71276497	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3376635	chr14:71275024-71277572	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71273000-71280600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:71274200-71278800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:71274200-71279400	Active TSS	HMEC	breast
4	chr14:71274400-71276800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr14:71274400-71277600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:71274400-71277800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr14:71274400-71277800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:71274400-71278200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:71274600-71275600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr14:71274600-71275600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:71274600-71275600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:71274600-71275800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr14:71274600-71276000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:71274600-71277200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr14:71274600-71277200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:71274600-71277200	Active TSS	Psoas Muscle	Psoas
17	chr14:71274600-71277600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr14:71274600-71277600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:71274600-71277800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:71274600-71277800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:71274600-71279400	Active TSS	Esophagus	oesophagus
22	chr14:71274800-71275600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:71274800-71275800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr14:71274800-71276400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:71274800-71276800	Active TSS	Brain Angular Gyrus	brain
26	chr14:71274800-71277000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
27	chr14:71274800-71277400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:71274800-71277400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:71274800-71277400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr14:71274800-71277600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:71274800-71277600	Active TSS	Brain Anterior Caudate	brain
32	chr14:71274800-71277800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:71274800-71277800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:71274800-71278200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr14:71274800-71278600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:71274800-71279400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr14:71275000-71275600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr14:71275000-71275800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:71275000-71275800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr14:71275000-71276000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr14:71275000-71276000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:71275000-71276000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:71275000-71276400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
44	chr14:71275000-71276600	Active TSS	Primary T cells from cord blood	blood
45	chr14:71275000-71276600	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr14:71275000-71276600	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr14:71275000-71276600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr14:71275000-71276600	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr14:71275000-71276600	Bivalent/Poised TSS	Osteobl	bone
50	chr14:71275000-71276800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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