Variant report

Variant	rs12878800
Chromosome Location	chr14:32672710-32672711
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr14:32672596-32672987	A549	lung:	n/a	n/a
2	YY1	chr14:32672689-32672944	HCT-116	colon:	n/a	n/a
3	ZNF143	chr14:32672170-32673123	H1-hESC	embryonic stem cell:	n/a	chr14:32672704-32672723 chr14:32672705-32672720
4	RUNX3	chr14:32672115-32672823	GM12878	blood:	n/a	n/a
5	EBF1	chr14:32672346-32672767	GM12878	blood:	n/a	n/a
6	TEAD4	chr14:32672312-32672765	H1-hESC	embryonic stem cell:	n/a	n/a
7	GATA2	chr14:32672241-32672748	HUVEC	blood vessel:	n/a	chr14:32672553-32672563
8	HEY1	chr14:32672667-32672988	K562	blood:	n/a	n/a
9	NFIC	chr14:32669857-32673593	HepG2	liver:	n/a	chr14:32670734-32670751
10	REST	chr14:32672218-32673357	HepG2	liver:	n/a	chr14:32672791-32672801 chr14:32672841-32672854
11	TBP	chr14:32671734-32673290	GM12878	blood:	n/a	n/a
12	MYC	chr14:32672058-32672958	NB4	blood:	n/a	chr14:32672740-32672750
13	ATF3	chr14:32671952-32672836	A549	lung:	n/a	n/a
14	YY1	chr14:32672094-32672977	HepG2	liver:	n/a	n/a
15	TEAD4	chr14:32671973-32672791	MCF-7	breast:	n/a	n/a
16	RFX5	chr14:32672102-32673742	HepG2	liver:	n/a	n/a
17	FOXP2	chr14:32672551-32672949	PFSK-1	brain:	n/a	n/a
18	MAX	chr14:32672399-32673488	SK-N-SH	brain:	n/a	chr14:32672740-32672750
19	POLR2A	chr14:32672140-32673200	MCF10A-Er-Src	breast:	n/a	n/a
20	BHLHE40	chr14:32672133-32673402	HepG2	liver:	n/a	n/a
21	TBP	chr14:32671865-32673242	Hela-S3	cervix:	n/a	n/a
22	YY1	chr14:32672299-32672924	GM12878	blood:	n/a	n/a
23	ZEB1	chr14:32669719-32673848	HepG2	liver:	n/a	n/a
24	TCF7L2	chr14:32672150-32673013	Hela-S3	cervix:	n/a	n/a
25	ZBTB7A	chr14:32672541-32673046	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr14:32672667-32672968	HepG2	liver:	n/a	n/a
27	RAD21	chr14:32672470-32673013	HepG2	liver:	n/a	n/a
28	JUND	chr14:32672399-32672922	HepG2	liver:	n/a	n/a
29	MYC	chr14:32672654-32672717	MCF-7	breast:	n/a	n/a
30	ELK1	chr14:32672345-32672905	Hela-S3	cervix:	n/a	n/a
31	BACH1	chr14:32672500-32672798	H1-hESC	embryonic stem cell:	n/a	n/a
32	ETS1	chr14:32672008-32672754	A549	lung:	n/a	n/a
33	HCFC1	chr14:32672135-32673020	K562	blood:	n/a	n/a
34	CCNT2	chr14:32672601-32673103	K562	blood:	n/a	n/a
35	TCF12	chr14:32670008-32673441	A549	lung:	n/a	n/a
36	KAP1	chr14:32670030-32673658	HEK293	kidney:	n/a	n/a
37	PAX5	chr14:32672695-32672939	GM12892	blood:	n/a	n/a
38	HEY1	chr14:32672163-32673120	HepG2	liver:	n/a	n/a
39	MAX	chr14:32672232-32673008	K562	blood:	n/a	chr14:32672740-32672750
40	POLR2A	chr14:32672651-32672996	Hela-S3	cervix:	n/a	n/a
41	FOXM1	chr14:32672211-32672965	GM12878	blood:	n/a	n/a
42	MAX	chr14:32669799-32673731	HepG2	liver:	n/a	chr14:32672740-32672750
43	CREB1	chr14:32669939-32673704	HepG2	liver:	n/a	n/a
44	TEAD4	chr14:32672091-32672883	A549	lung:	n/a	n/a
45	MAX	chr14:32672600-32673012	H1-hESC	embryonic stem cell:	n/a	chr14:32672740-32672750
46	MAX	chr14:32672070-32673666	MCF-7	breast:	n/a	chr14:32672740-32672750
47	MYC	chr14:32672474-32672836	H1-hESC	embryonic stem cell:	n/a	chr14:32672740-32672750
48	POLR2A	chr14:32672629-32672963	HCT-116	colon:	n/a	n/a
49	EP300	chr14:32671516-32672980	HepG2	liver:	n/a	chr14:32672813-32672829
50	SMC3	chr14:32671930-32673280	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	chr14:32672705-32672755	A549	lung:	n/a
2	chr14:32672705-32672755	NHDF-neo	bronchial:	n/a
3	chr14:32672705-32672755	HNPCEpiC	eye:	n/a
4	chr14:32672705-32672755	SK-N-SH	brain:	n/a
5	chr14:32672705-32672755	AG09319	gingival:	n/a
6	chr14:32672705-32672755	HEK293	kidney:	embryo
7	chr14:32672705-32672755	ovcar-3	ovarian:	n/a
8	chr14:32672705-32672755	PFSK-1	brain:	n/a
9	chr14:32672705-32672755	HCF	heart:	n/a
10	chr14:32672705-32672755	HCT-116	colon:	n/a
11	chr14:32672705-32672755	LNCaP	prostate:	n/a
12	chr14:32672705-32672755	IMR90	lung:	fetal
13	chr14:32672705-32672755	GM12878	blood:	n/a
14	chr14:32672705-32672755	H1-hESC	embryonic stem cell:	embryo
15	chr14:32672705-32672755	HL-60	blood:	n/a
16	chr14:32672705-32672755	NT2-D1	testis:	n/a
17	chr14:32672705-32672755	GM06990	blood:	n/a
18	chr14:32672705-32672755	HCPEpiC	choroid plexus:	n/a
19	chr14:32672705-32672755	NHBE	bronchial:	n/a
20	chr14:32672705-32672755	HEEpiC	esophagus:	n/a
21	chr14:32672705-32672755	Hepatocyte	liver:	n/a
22	chr14:32672705-32672755	ProgFib	skin:	n/a
23	chr14:32672705-32672755	AG04449	skin:	fetal
24	chr14:32672705-32672755	HepG2	liver:	n/a
25	chr14:32672705-32672755	HUVEC	blood vessel:	n/a
26	chr14:32672705-32672755	PrEC	prostate:	n/a
27	chr14:32672705-32672755	Caco-2	colon:	n/a
28	chr14:32672705-32672755	HPAEpiC	pulmonary alveolar:	n/a
29	chr14:32672705-32672755	SK-N-MC	brain:	n/a
30	chr14:32672705-32672755	T-47D	breast:	n/a
31	chr14:32672705-32672755	Jurkat	blood:	n/a
32	chr14:32672705-32672755	GM19239	blood:	n/a
33	chr14:32672705-32672755	PANC-1	pancreas:	n/a
34	chr14:32672705-32672755	AG04450	lung:	fetal
35	chr14:32672705-32672755	HMEC	breast:	n/a
36	chr14:32672705-32672755	Hela-S3	cervix:	n/a
37	chr14:32672705-32672755	SKMC	muscle:	n/a
38	chr14:32672705-32672755	HRPEpiC	eye:	n/a
39	chr14:32672705-32672755	U87	brain:	n/a
40	chr14:32672705-32672755	HRCEpiC	kidney:	n/a
41	chr14:32672705-32672755	HAEpiC	amniotic membrane:	n/a
42	chr14:32672705-32672755	AoSMC	blood vessel:	n/a
43	chr14:32672705-32672755	SK-N-SH_RA	brain:	n/a
44	chr14:32672705-32672755	GM12891	blood:	n/a
45	chr14:32672705-32672755	HIPEpiC	eye:	n/a
46	chr14:32672705-32672755	BE2_C	brain:	n/a
47	chr14:32672705-32672755	RPTEC	kidney:	n/a
48	chr14:32672705-32672755	HCM	heart:	n/a
49	chr14:32672705-32672755	AG10803	skin:	n/a
50	chr14:32672705-32672755	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:32544618..32548147-chr14:32668083..32673759,9	K562	blood:
2	chr14:32545768..32548128-chr14:32672317..32675290,2	MCF-7	breast:
3	chr14:32544948..32548496-chr14:32669195..32673537,9	MCF-7	breast:
4	chr14:32544500..32547770-chr14:32669959..32673759,8	K562	blood:

No data

Variant related genes	Relation type
RNU6-8	TF binding region
RNU6-8	CpG island
ENSG00000258655	Chromatin interaction
ENSG00000100852	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10130218	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10136523	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10137315	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10138295	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10138397	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139123	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10140813	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10141044	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10141207	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10144755	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10872859	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11845870	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11848180	0.93[ASN][1000 genomes]
rs17098553	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17098598	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1958367	0.97[ASN][1000 genomes]
rs1958368	0.88[ASN][1000 genomes]
rs2149665	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5002692	0.87[ASN][1000 genomes]
rs7160720	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7160938	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8003494	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003504	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8005822	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8005842	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006035	0.95[ASN][1000 genomes]
rs8006774	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8011428	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8013618	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8013984	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8016252	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8017486	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8017665	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8018778	0.92[ASN][1000 genomes]
rs8020915	0.94[ASN][1000 genomes]
rs8020976	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022007	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr14:32669400-32673600	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr14:32669600-32673600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr14:32669600-32674000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:32669800-32673400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr14:32669800-32673400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr14:32669800-32673400	Active TSS	Fetal Heart	heart
7	chr14:32669800-32673800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:32669800-32673800	Active TSS	Brain Anterior Caudate	brain
9	chr14:32669800-32674000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:32670000-32673200	Active TSS	Brain Cingulate Gyrus	brain
11	chr14:32670000-32673200	Active TSS	Thymus	Thymus
12	chr14:32670000-32673400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:32670000-32673400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:32670000-32673400	Active TSS	Fetal Brain Male	brain
15	chr14:32670000-32673400	Active TSS	Fetal Kidney	kidney
16	chr14:32670000-32673400	Active TSS	Left Ventricle	heart
17	chr14:32670000-32673400	Active TSS	Psoas Muscle	Psoas
18	chr14:32670000-32673400	Active TSS	Right Ventricle	heart
19	chr14:32670000-32673600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr14:32670000-32673600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:32670000-32673600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:32670000-32673600	Active TSS	Ovary	ovary
23	chr14:32670000-32673600	Active TSS	Right Atrium	heart
24	chr14:32670000-32673800	Active TSS	Brain Angular Gyrus	brain
25	chr14:32670000-32673800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr14:32670000-32673800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:32670000-32673800	Active TSS	Fetal Muscle Leg	muscle
28	chr14:32670200-32673400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:32670200-32673400	Active TSS	Aorta	Aorta
30	chr14:32670200-32673400	Active TSS	Lung	lung
31	chr14:32670200-32673600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:32670200-32673600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:32670200-32673600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:32670200-32673600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:32670200-32673600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:32670400-32673200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:32670400-32673400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:32670400-32673400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:32670400-32673400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr14:32670600-32673400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:32670600-32673600	Active TSS	HSMM	muscle
42	chr14:32670800-32673400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:32670800-32673400	Active TSS	Fetal Muscle Trunk	muscle
44	chr14:32671000-32673200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:32671000-32673600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:32671200-32672800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
47	chr14:32671200-32673200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr14:32671400-32672800	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr14:32671600-32673200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:32671600-32673400	Active TSS	Esophagus	oesophagus

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