Variant report

Variant	rs8003504
Chromosome Location	chr14:32672554-32672555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:249)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:249 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr14:32672170-32673123	H1-hESC	embryonic stem cell:	n/a	chr14:32672704-32672723 chr14:32672705-32672720
2	ETS1	chr14:32672145-32672584	A549	lung:	n/a	n/a
3	MAFF	chr14:32672211-32672676	HepG2	liver:	n/a	n/a
4	RUNX3	chr14:32672115-32672823	GM12878	blood:	n/a	n/a
5	MYC	chr14:32672554-32672684	K562	blood:	n/a	n/a
6	EBF1	chr14:32672346-32672767	GM12878	blood:	n/a	n/a
7	TEAD4	chr14:32672312-32672765	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA2	chr14:32672241-32672748	HUVEC	blood vessel:	n/a	chr14:32672553-32672563
9	NFIC	chr14:32669857-32673593	HepG2	liver:	n/a	chr14:32670734-32670751
10	GTF3C2	chr14:32671954-32672628	Hela-S3	cervix:	n/a	n/a
11	REST	chr14:32672218-32673357	HepG2	liver:	n/a	chr14:32672791-32672801 chr14:32672841-32672854
12	TBP	chr14:32671734-32673290	GM12878	blood:	n/a	n/a
13	MYC	chr14:32672058-32672958	NB4	blood:	n/a	chr14:32672740-32672750
14	ATF3	chr14:32671952-32672836	A549	lung:	n/a	n/a
15	YY1	chr14:32672094-32672977	HepG2	liver:	n/a	n/a
16	TEAD4	chr14:32671973-32672791	MCF-7	breast:	n/a	n/a
17	RFX5	chr14:32672102-32673742	HepG2	liver:	n/a	n/a
18	FOXP2	chr14:32672551-32672949	PFSK-1	brain:	n/a	n/a
19	MAX	chr14:32672399-32673488	SK-N-SH	brain:	n/a	chr14:32672740-32672750
20	POLR2A	chr14:32672140-32673200	MCF10A-Er-Src	breast:	n/a	n/a
21	BHLHE40	chr14:32672133-32673402	HepG2	liver:	n/a	n/a
22	TBP	chr14:32671865-32673242	Hela-S3	cervix:	n/a	n/a
23	YY1	chr14:32672299-32672924	GM12878	blood:	n/a	n/a
24	ZEB1	chr14:32669719-32673848	HepG2	liver:	n/a	n/a
25	TCF7L2	chr14:32672150-32673013	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr14:32672114-32672657	PANC-1	pancreas:	n/a	n/a
27	ZBTB7A	chr14:32672541-32673046	ECC-1	luminal epithelium:	n/a	n/a
28	RAD21	chr14:32672470-32673013	HepG2	liver:	n/a	n/a
29	JUND	chr14:32672399-32672922	HepG2	liver:	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	TCF12	chr14:32670008-32673441	A549	lung:	n/a	n/a
35	KAP1	chr14:32670030-32673658	HEK293	kidney:	n/a	n/a
36	HEY1	chr14:32672163-32673120	HepG2	liver:	n/a	n/a
37	MAX	chr14:32672232-32673008	K562	blood:	n/a	chr14:32672740-32672750
38	ATF1	chr14:32672124-32672655	K562	blood:	n/a	n/a
39	FOXM1	chr14:32672211-32672965	GM12878	blood:	n/a	n/a
40	MAX	chr14:32669799-32673731	HepG2	liver:	n/a	chr14:32672740-32672750
41	CREB1	chr14:32669939-32673704	HepG2	liver:	n/a	n/a
42	TEAD4	chr14:32672091-32672883	A549	lung:	n/a	n/a
43	MAX	chr14:32672070-32673666	MCF-7	breast:	n/a	chr14:32672740-32672750
44	MYC	chr14:32672474-32672836	H1-hESC	embryonic stem cell:	n/a	chr14:32672740-32672750
45	EP300	chr14:32671516-32672980	HepG2	liver:	n/a	chr14:32672813-32672829
46	POLR2A	chr14:32672061-32672655	GM12892	blood:	n/a	n/a
47	SMC3	chr14:32671930-32673280	Hela-S3	cervix:	n/a	n/a
48	SIN3AK20	chr14:32672238-32673029	SK-N-SH	brain:	n/a	n/a
49	BRCA1	chr14:32672141-32672776	HepG2	liver:	n/a	n/a
50	BCLAF1	chr14:32671973-32672725	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:32672544-32672594	HRCEpiC	kidney:	n/a
2	chr14:32672544-32672594	AG04449	skin:	fetal
3	chr14:32672544-32672594	GM12878	blood:	n/a
4	chr14:32672544-32672594	AG09319	gingival:	n/a
5	chr14:32672544-32672594	PFSK-1	brain:	n/a
6	chr14:32672544-32672594	MCF-7	breast:	n/a
7	chr14:32672544-32672594	ovcar-3	ovarian:	n/a
8	chr14:32672544-32672594	NH-A	brain:	n/a
9	chr14:32672544-32672594	U87	brain:	n/a
10	chr14:32672544-32672594	HCF	heart:	n/a
11	chr14:32672544-32672594	NHBE	bronchial:	n/a
12	chr14:32672544-32672594	HCPEpiC	choroid plexus:	n/a
13	chr14:32672544-32672594	GM12891	blood:	n/a
14	chr14:32672544-32672594	Hela-S3	cervix:	n/a
15	chr14:32672544-32672594	A549	lung:	n/a
16	chr14:32672544-32672594	HRE	kidney:	n/a
17	chr14:32672544-32672594	HPAEpiC	pulmonary alveolar:	n/a
18	chr14:32672544-32672594	Caco-2	colon:	n/a
19	chr14:32672544-32672594	MCF10A-Er-Src	breast:	n/a
20	chr14:32672544-32672594	RPTEC	kidney:	n/a
21	chr14:32672544-32672594	HepG2	liver:	n/a
22	chr14:32672544-32672594	AG09309	skin:	n/a
23	chr14:32672544-32672594	GM19239	blood:	n/a
24	chr14:32672544-32672594	IMR90	lung:	fetal
25	chr14:32672544-32672594	NT2-D1	testis:	n/a
26	chr14:32672544-32672594	SKMC	muscle:	n/a
27	chr14:32672544-32672594	LNCaP	prostate:	n/a
28	chr14:32672544-32672594	Hepatocyte	liver:	n/a
29	chr14:32672544-32672594	HIPEpiC	eye:	n/a
30	chr14:32672544-32672594	NB4	blood:	n/a
31	chr14:32672544-32672594	PANC-1	pancreas:	n/a
32	chr14:32672544-32672594	NHDF-neo	bronchial:	n/a
33	chr14:32672544-32672594	BE2_C	brain:	n/a
34	chr14:32672544-32672594	AG04450	lung:	fetal
35	chr14:32672544-32672594	SK-N-SH_RA	brain:	n/a
36	chr14:32672544-32672594	K562	blood:	n/a
37	chr14:32672544-32672594	ProgFib	skin:	n/a
38	chr14:32672544-32672594	ECC-1	luminal epithelium:	n/a
39	chr14:32672544-32672594	HEK293	kidney:	embryo
40	chr14:32672544-32672594	GM12892	blood:	n/a
41	chr14:32672544-32672594	PrEC	prostate:	n/a
42	chr14:32672544-32672594	HAEpiC	amniotic membrane:	n/a
43	chr14:32672544-32672594	AG10803	skin:	n/a
44	chr14:32672544-32672594	HUVEC	blood vessel:	n/a
45	chr14:32672544-32672594	H1-hESC	embryonic stem cell:	embryo
46	chr14:32672544-32672594	HMEC	breast:	n/a
47	chr14:32672544-32672594	SK-N-MC	brain:	n/a
48	chr14:32672544-32672594	HNPCEpiC	eye:	n/a
49	chr14:32672544-32672594	SK-N-SH	brain:	n/a
50	chr14:32672544-32672594	T-47D	breast:	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
ENSG00000100852	Chromatin interaction
ENSG00000258655	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	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10136523	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10137315	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10138295	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10138397	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10139123	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140813	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10141044	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141207	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10144755	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10872859	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11845870	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11848180	0.92[ASN][1000 genomes]
rs12878800	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17098553	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17098598	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1958367	0.96[ASN][1000 genomes]
rs1958368	0.87[ASN][1000 genomes]
rs2149665	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5002692	0.86[ASN][1000 genomes]
rs7160720	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7160938	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8003494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8005822	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8005842	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8006035	0.94[ASN][1000 genomes]
rs8006774	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8011428	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8013618	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8013984	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8016252	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8017486	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8017665	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8018778	0.92[ASN][1000 genomes]
rs8020915	0.93[ASN][1000 genomes]
rs8020976	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8022007	0.93[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	chr14:32671200-32672600	Weak transcription	Small Intestine	intestine
47	chr14:32671200-32672800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
48	chr14:32671200-32673200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr14:32671400-32672600	Flanking Bivalent TSS/Enh	Osteobl	bone
50	chr14:32671400-32672800	Active TSS	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links