Variant report

Variant	rs1256147
Chromosome Location	chr14:64932112-64932113
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:64931794-64932465	H1-neurons	neurons:	n/a	n/a
2	MYC	chr14:64931999-64932221	MCF-7	breast:	n/a	n/a
3	CEBPD	chr14:64931940-64932349	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:64931892-64932137	K562	blood:	n/a	n/a
5	MAX	chr14:64931843-64932393	K562	blood:	n/a	n/a
6	POLR2A	chr14:64931210-64932926	A549	lung:	n/a	n/a
7	CTCF	chr14:64932112-64932123	Pancreas_OC	pancreas:	n/a	n/a
8	RUNX3	chr14:64931478-64932249	GM12878	blood:	n/a	n/a
9	SP1	chr14:64931948-64932282	GM12878	blood:	n/a	chr14:64931980-64931989
10	POLR2A	chr14:64932074-64932358	K562	blood:	n/a	n/a
11	CTCF	chr14:64932100-64932250	SAEC	small airway:	n/a	n/a
12	ZBTB7A	chr14:64931888-64932553	HepG2	liver:	n/a	chr14:64932191-64932200
13	ZBTB7A	chr14:64931884-64932430	K562	blood:	n/a	chr14:64932191-64932200
14	TAF1	chr14:64931900-64932411	HepG2	liver:	n/a	n/a
15	MYC	chr14:64932009-64932217	K562	blood:	n/a	n/a
16	PBX3	chr14:64931914-64932376	A549	lung:	n/a	chr14:64932155-64932175
17	CTCF	chr14:64932100-64932250	GM12869	blood:	n/a	n/a
18	CREB1	chr14:64931794-64932567	HepG2	liver:	n/a	n/a
19	CTCF	chr14:64931992-64932469	K562	blood:	n/a	n/a
20	YY1	chr14:64931809-64932155	GM12878	blood:	n/a	chr14:64931943-64931952 chr14:64931930-64931939
21	EBF1	chr14:64931878-64932545	GM12878	blood:	n/a	chr14:64932251-64932260 chr14:64932250-64932261
22	POLR2A	chr14:64931895-64932347	A549	lung:	n/a	n/a
23	CTCF	chr14:64932080-64932370	GM12871	blood:	n/a	n/a
24	MAX	chr14:64931996-64932260	K562	blood:	n/a	n/a
25	POLR2A	chr14:64931924-64932501	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:64932058-64932361	GM12878	blood:	n/a	n/a
27	MAX	chr14:64932034-64932249	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:64932013-64932684	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:64931774-64932524	ProgFib	skin:	n/a	n/a
30	CHD2	chr14:64931988-64932865	H1-hESC	embryonic stem cell:	n/a	chr14:64932359-64932369
31	POLR2A	chr14:64931427-64932347	GM12878	blood:	n/a	n/a
32	E2F6	chr14:64931851-64932375	K562	blood:	n/a	chr14:64931943-64931952 chr14:64932202-64932212 chr14:64932204-64932213 chr14:64931940-64931952
33	POLR2A	chr14:64931872-64932437	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr14:64931188-64932858	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:64931851-64932414	A549	lung:	n/a	n/a
36	TCF3	chr14:64931943-64932264	GM12878	blood:	n/a	chr14:64932068-64932081 chr14:64932071-64932085
37	E2F6	chr14:64931462-64932286	H1-hESC	embryonic stem cell:	n/a	chr14:64931943-64931952 chr14:64932202-64932212 chr14:64932204-64932213 chr14:64931940-64931952 chr14:64931779-64931788
38	NFYB	chr14:64931439-64932330	GM12878	blood:	n/a	n/a
39	CTCF	chr14:64932080-64932230	WERI-Rb-1	eye:	n/a	n/a
40	POLR2A	chr14:64931947-64932319	A549	lung:	n/a	n/a
41	JUND	chr14:64931920-64932359	A549	lung:	n/a	chr14:64931944-64931953 chr14:64931930-64931939
42	POLR2A	chr14:64931930-64932329	HUVEC	blood vessel:	n/a	n/a
43	NFYA	chr14:64932001-64932225	K562	blood:	n/a	n/a
44	HMGN3	chr14:64931928-64932366	K562	blood:	n/a	n/a
45	JUND	chr14:64932063-64932194	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr14:64932080-64932230	GM12866	blood:	n/a	n/a
47	POLR2A	chr14:64931932-64932131	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr14:64931778-64932426	GM12892	blood:	n/a	n/a
49	CTCF	chr14:64932072-64932361	K562	blood:	n/a	n/a
50	MAX	chr14:64931847-64932537	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:64932086-64932136	HRE	kidney:	n/a
2	chr14:64932086-64932136	CMK	blood:	n/a
3	chr14:64932086-64932136	NB4	blood:	n/a
4	chr14:64932086-64932136	K562	blood:	n/a
5	chr14:64932086-64932136	HIPEpiC	eye:	n/a
6	chr14:64932086-64932136	BJ	skin:	n/a
7	chr14:64932086-64932136	LNCaP	prostate:	n/a
8	chr14:64932086-64932136	HMEC	breast:	n/a
9	chr14:64932086-64932136	GM12878	blood:	n/a
10	chr14:64932086-64932136	PANC-1	pancreas:	n/a
11	chr14:64932086-64932136	HUVEC	blood vessel:	n/a
12	chr14:64932086-64932136	H1-hESC	embryonic stem cell:	embryo
13	chr14:64932086-64932136	Jurkat	blood:	n/a
14	chr14:64932086-64932136	ovcar-3	ovarian:	n/a
15	chr14:64932086-64932136	SKMC	muscle:	n/a
16	chr14:64932086-64932136	AG04449	skin:	fetal
17	chr14:64932086-64932136	AG09319	gingival:	n/a
18	chr14:64932086-64932136	AG09309	skin:	n/a
19	chr14:64932086-64932136	Hepatocyte	liver:	n/a
20	chr14:64932086-64932136	HAEpiC	amniotic membrane:	n/a
21	chr14:64932086-64932136	NHBE	bronchial:	n/a
22	chr14:64932086-64932136	BE2_C	brain:	n/a
23	chr14:64932086-64932136	HNPCEpiC	eye:	n/a
24	chr14:64932086-64932136	T-47D	breast:	n/a
25	chr14:64932086-64932136	PrEC	prostate:	n/a
26	chr14:64932086-64932136	U87	brain:	n/a
27	chr14:64932086-64932136	Hela-S3	cervix:	n/a
28	chr14:64932086-64932136	NT2-D1	testis:	n/a
29	chr14:64932086-64932136	HCM	heart:	n/a
30	chr14:64932086-64932136	HEK293	kidney:	embryo
31	chr14:64932086-64932136	AG10803	skin:	n/a
32	chr14:64932086-64932136	HRPEpiC	eye:	n/a
33	chr14:64932086-64932136	GM12892	blood:	n/a
34	chr14:64932086-64932136	IMR90	lung:	fetal
35	chr14:64932086-64932136	SK-N-SH_RA	brain:	n/a
36	chr14:64932086-64932136	RPTEC	kidney:	n/a
37	chr14:64932086-64932136	HCPEpiC	choroid plexus:	n/a
38	chr14:64932086-64932136	PFSK-1	brain:	n/a
39	chr14:64932086-64932136	NHDF-neo	bronchial:	n/a
40	chr14:64932086-64932136	GM12891	blood:	n/a
41	chr14:64932086-64932136	HRCEpiC	kidney:	n/a
42	chr14:64932086-64932136	GM19239	blood:	n/a
43	chr14:64932086-64932136	SAEC	small airway:	n/a
44	chr14:64932086-64932136	HPAEpiC	pulmonary alveolar:	n/a
45	chr14:64932086-64932136	HCF	heart:	n/a
46	chr14:64932086-64932136	HEEpiC	esophagus:	n/a
47	chr14:64932086-64932136	ECC-1	luminal epithelium:	n/a
48	chr14:64932086-64932136	ProgFib	skin:	n/a
49	chr14:64932086-64932136	SK-N-SH	brain:	n/a
50	chr14:64932086-64932136	MCF-7	breast:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64930987..64933079-chr14:64967526..64973126,5	K562	blood:
2	chr14:64803906..64806572-chr14:64931229..64934369,3	MCF-7	breast:
3	chr14:64901956..64903904-chr14:64931044..64932643,2	MCF-7	breast:
4	chr14:64930172..64935199-chr14:64969400..64972494,10	MCF-7	breast:
5	chr14:64930505..64934030-chr14:64968774..64972974,8	MCF-7	breast:
6	chr14:64930987..64933266-chr14:64970240..64972986,3	K562	blood:

No data

Variant related genes	Relation type
AKAP5	TF binding region
AKAP5	CpG island
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000140009	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1256148	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902022	chr14:64926581-64958638	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr14:64928200-64948000	Weak transcription	Hela-S3	cervix
2	chr14:64931200-64933200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:64931400-64932400	Active TSS	Placenta Amnion	Placenta Amnion
4	chr14:64931400-64932800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:64931400-64932800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:64931400-64933000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:64931400-64933000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr14:64931400-64933000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:64931400-64933000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:64931400-64933000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr14:64931400-64933000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:64931400-64933000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:64931400-64933200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:64931400-64933200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:64931400-64933200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:64931600-64932200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:64931600-64932400	Active TSS	GM12878-XiMat	blood
18	chr14:64931600-64932600	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr14:64931600-64932800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:64931600-64932800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:64931600-64932800	Active TSS	Pancreas	Pancrea
22	chr14:64931600-64932800	Active TSS	Stomach Mucosa	stomach
23	chr14:64931600-64932800	Active TSS	NHLF	lung
24	chr14:64931600-64933000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr14:64931600-64933000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:64931600-64933000	Active TSS	Aorta	Aorta
27	chr14:64931600-64933000	Active TSS	Ovary	ovary
28	chr14:64931600-64933000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
29	chr14:64931600-64933200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:64931600-64933200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:64931600-64933200	Active TSS	Colonic Mucosa	Colon
32	chr14:64931600-64933200	Active TSS	NHDF-Ad	bronchial
33	chr14:64931600-64933400	Active TSS	Brain Germinal Matrix	brain
34	chr14:64931600-64933400	Active TSS	Fetal Intestine Large	intestine
35	chr14:64931800-64932200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:64931800-64932200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:64931800-64932200	Active TSS	Psoas Muscle	Psoas
38	chr14:64931800-64932400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:64931800-64932400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:64931800-64932400	Active TSS	Primary B cells from peripheral blood	blood
41	chr14:64931800-64932400	Active TSS	Primary T cells fromperipheralblood	blood
42	chr14:64931800-64932400	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr14:64931800-64932400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:64931800-64932400	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr14:64931800-64932400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:64931800-64932400	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr14:64931800-64932400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:64931800-64932400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr14:64931800-64932400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:64931800-64932400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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