Variant report

Variant	rs1271563
Chromosome Location	chr14:64009489-64009490
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:64009030-64010730	Hela-S3	cervix:	n/a	n/a
2	SIN3A	chr14:64008754-64010969	H1-hESC	embryonic stem cell:	n/a	chr14:64010095-64010104 chr14:64010523-64010534
3	POLR2A	chr14:64009198-64010639	ECC-1	luminal epithelium:	n/a	n/a
4	FOXM1	chr14:64009475-64010858	MCF-7	breast:	n/a	n/a
5	EGR1	chr14:64009416-64009723	K562	blood:	n/a	chr14:64009568-64009582
6	POLR2A	chr14:64008897-64010587	Hela-S3	cervix:	n/a	n/a
7	PML	chr14:64008954-64009544	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:64009338-64010820	HepG2	liver:	n/a	n/a
9	JUND	chr14:64009434-64010789	MCF-7	breast:	n/a	chr14:64009821-64009830
10	CHD2	chr14:64009061-64010683	Hela-S3	cervix:	n/a	chr14:64009281-64009291 chr14:64009463-64009473
11	UBTF	chr14:64009366-64010708	K562	blood:	n/a	n/a
12	ELF1	chr14:64009300-64010789	MCF-7	breast:	n/a	chr14:64009858-64009867 chr14:64009852-64009861 chr14:64010320-64010329 chr14:64009723-64009732 chr14:64009855-64009864 chr14:64009853-64009865 chr14:64010098-64010110 chr14:64010102-64010111 chr14:64009718-64009730
13	TAF1	chr14:64008936-64010955	H1-hESC	embryonic stem cell:	n/a	n/a
14	MXI1	chr14:64008142-64011104	IMR90	lung:	n/a	n/a
15	SMARCB1	chr14:64009279-64010807	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr14:64009439-64011265	HUVEC	blood vessel:	n/a	n/a
17	CCNT2	chr14:64009341-64010572	K562	blood:	n/a	chr14:64009369-64009378 chr14:64010495-64010504
18	TCF7L2	chr14:64009319-64010612	HCT-116	colon:	n/a	n/a
19	TAF1	chr14:64009471-64010529	HepG2	liver:	n/a	n/a
20	GATA3	chr14:64008635-64010744	MCF-7	breast:	n/a	chr14:64008823-64008833 chr14:64008821-64008831 chr14:64008824-64008833 chr14:64008820-64008836 chr14:64008824-64008831 chr14:64008817-64008838
21	POLR2A	chr14:64009474-64010653	A549	lung:	n/a	n/a
22	POLR2A	chr14:64009337-64010832	K562	blood:	n/a	n/a
23	UBTF	chr14:64009266-64010579	K562	blood:	n/a	n/a
24	POLR2A	chr14:64009077-64010693	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr14:64009041-64010741	A549	lung:	n/a	n/a
26	POLR2A	chr14:64009149-64010835	MCF-7	breast:	n/a	n/a
27	POLR2A	chr14:64009213-64010683	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr14:64009341-64010690	MCF-7	breast:	n/a	n/a
29	POLR2A	chr14:64009005-64009543	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr14:64009090-64010622	K562	blood:	n/a	n/a
31	HDAC2	chr14:64009408-64010874	MCF-7	breast:	n/a	chr14:64009447-64009461
32	POLR2A	chr14:64009258-64009569	ProgFib	skin:	n/a	n/a
33	POLR2A	chr14:64009450-64010613	NB4	blood:	n/a	n/a
34	MAX	chr14:64008804-64010740	MCF-7	breast:	n/a	n/a
35	SIN3AK20	chr14:64009470-64010732	MCF-7	breast:	n/a	n/a
36	POLR2A	chr14:64009364-64010997	GM18505	blood:	n/a	n/a
37	EGR1	chr14:64009465-64009698	GM12878	blood:	n/a	chr14:64009568-64009582
38	MAZ	chr14:64009076-64010694	GM12878	blood:	n/a	n/a
39	SIN3AK20	chr14:64008561-64011141	MCF-7	breast:	n/a	n/a
40	RUNX3	chr14:64009306-64009662	GM12878	blood:	n/a	n/a
41	EGR1	chr14:64008861-64009652	MCF-7	breast:	n/a	chr14:64009216-64009229 chr14:64009216-64009229 chr14:64009217-64009228 chr14:64009216-64009229 chr14:64009216-64009229 chr14:64009217-64009226 chr14:64009568-64009582 chr14:64009283-64009296 chr14:64009215-64009229 chr14:64009215-64009230 chr14:64009216-64009226
42	HCFC1	chr14:64009196-64011098	Hela-S3	cervix:	n/a	n/a
43	HMGN3	chr14:64009373-64010567	K562	blood:	n/a	n/a
44	ZBTB7A	chr14:64009484-64009650	K562	blood:	n/a	n/a
45	EGR1	chr14:64009358-64009658	K562	blood:	n/a	chr14:64009568-64009582
46	POLR2A	chr14:64009067-64010693	H1-neurons	neurons:	n/a	n/a
47	REST	chr14:64008542-64011077	H1-neurons	neurons:	n/a	chr14:64009471-64009481 chr14:64009469-64009483
48	POLR2A	chr14:64009406-64010838	GM18951	blood:	n/a	n/a
49	MXI1	chr14:64007959-64011998	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr14:64009129-64011126	SK-N-MC	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:64009472-64009522	HPAEpiC	pulmonary alveolar:	n/a
2	chr14:64009472-64009522	HL-60	blood:	n/a
3	chr14:64009472-64009522	AG04450	lung:	fetal
4	chr14:64009472-64009522	MCF-7	breast:	n/a
5	chr14:64009472-64009522	MCF10A-Er-Src	breast:	n/a
6	chr14:64009472-64009522	PANC-1	pancreas:	n/a
7	chr14:64009472-64009522	HMEC	breast:	n/a
8	chr14:64009472-64009522	BJ	skin:	n/a
9	chr14:64009472-64009522	GM19239	blood:	n/a
10	chr14:64009472-64009522	SK-N-SH	brain:	n/a
11	chr14:64009472-64009522	NH-A	brain:	n/a
12	chr14:64009472-64009522	AG10803	skin:	n/a
13	chr14:64009472-64009522	HRCEpiC	kidney:	n/a
14	chr14:64009472-64009522	AG09319	gingival:	n/a
15	chr14:64009472-64009522	HIPEpiC	eye:	n/a
16	chr14:64009472-64009522	GM12892	blood:	n/a
17	chr14:64009472-64009522	HEK293	kidney:	embryo
18	chr14:64009472-64009522	LNCaP	prostate:	n/a
19	chr14:64009472-64009522	NHDF-neo	bronchial:	n/a
20	chr14:64009472-64009522	HUVEC	blood vessel:	n/a
21	chr14:64009472-64009522	SK-N-SH_RA	brain:	n/a
22	chr14:64009472-64009522	HAEpiC	amniotic membrane:	n/a
23	chr14:64009472-64009522	RPTEC	kidney:	n/a
24	chr14:64009472-64009522	SAEC	small airway:	n/a
25	chr14:64009472-64009522	HCT-116	colon:	n/a
26	chr14:64009472-64009522	BE2_C	brain:	n/a
27	chr14:64009472-64009522	GM06990	blood:	n/a
28	chr14:64009472-64009522	SK-N-MC	brain:	n/a
29	chr14:64009472-64009522	HEEpiC	esophagus:	n/a
30	chr14:64009472-64009522	IMR90	lung:	fetal
31	chr14:64009472-64009522	ECC-1	luminal epithelium:	n/a
32	chr14:64009472-64009522	AG04449	skin:	fetal
33	chr14:64009472-64009522	T-47D	breast:	n/a
34	chr14:64009472-64009522	Jurkat	blood:	n/a
35	chr14:64009472-64009522	Hela-S3	cervix:	n/a
36	chr14:64009472-64009522	CMK	blood:	n/a
37	chr14:64009472-64009522	NT2-D1	testis:	n/a
38	chr14:64009472-64009522	SKMC	muscle:	n/a
39	chr14:64009472-64009522	Hepatocyte	liver:	n/a
40	chr14:64009472-64009522	NHBE	bronchial:	n/a
41	chr14:64009472-64009522	GM12891	blood:	n/a
42	chr14:64009472-64009522	GM12878	blood:	n/a
43	chr14:64009472-64009522	HRPEpiC	eye:	n/a
44	chr14:64009472-64009522	HRE	kidney:	n/a
45	chr14:64009472-64009522	HCF	heart:	n/a
46	chr14:64009472-64009522	H1-hESC	embryonic stem cell:	embryo
47	chr14:64009472-64009522	K562	blood:	n/a
48	chr14:64009472-64009522	Caco-2	colon:	n/a
49	chr14:64009472-64009522	PrEC	prostate:	n/a
50	chr14:64009472-64009522	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:76428210..76428948-chr14:64008897..64009613,2	HCT-116	colon:
2	chr14:64007697..64011476-chr14:64104829..64109373,5	K562	blood:
3	chr14:64008866..64010910-chr14:64088046..64091397,3	MCF-7	breast:
4	chr14:64008001..64011840-chr14:64106623..64112419,9	MCF-7	breast:
5	chr14:64008641..64011329-chr14:64106976..64109877,3	K562	blood:

Variant related genes	Relation type
ENSG00000261242	TF binding region
ENSG00000261242	CpG island
ENSG00000140006	Chromatin interaction
ENSG00000206822	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10129891	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1152449	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12232206	0.95[ASN][1000 genomes]
rs1255631	0.92[YRI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1255635	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1255638	0.82[CEU][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1255639	0.82[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1255718	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255720	0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1255721	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255722	1.00[CEU][hapmap];0.90[GIH][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1255723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1255730	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1255733	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1255737	0.95[ASN][1000 genomes]
rs1255739	0.82[ASN][1000 genomes]
rs1255741	0.83[ASW][hapmap];0.84[MKK][hapmap];0.81[TSI][hapmap]
rs1255742	0.92[ASW][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];0.84[YRI][hapmap];0.82[ASN][1000 genomes]
rs1255743	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1255746	0.92[ASN][1000 genomes]
rs1255771	0.89[CHB][hapmap];0.80[CHD][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1255777	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255788	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2754223	0.92[ASW][hapmap];0.95[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573522	0.82[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7143992	0.95[ASN][1000 genomes]
rs964954	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv3372681	chr14:64008624-64011172	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr14:64007800-64011400	Active TSS	NHLF	lung
2	chr14:64007800-64011600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:64008000-64011200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:64008000-64011200	Active TSS	Fetal Intestine Small	intestine
5	chr14:64008000-64011600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:64008000-64011600	Active TSS	Right Ventricle	heart
7	chr14:64008200-64010800	Active TSS	Fetal Brain Male	brain
8	chr14:64008200-64011200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr14:64008200-64011200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr14:64008200-64011200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:64008200-64011200	Active TSS	Right Atrium	heart
12	chr14:64008200-64011400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:64008200-64011600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:64008200-64011600	Active TSS	HMEC	breast
15	chr14:64008200-64011800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:64008200-64011800	Active TSS	Stomach Smooth Muscle	stomach
17	chr14:64008400-64009600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:64008400-64010800	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr14:64008400-64010800	Active TSS	Brain Angular Gyrus	brain
20	chr14:64008400-64010800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr14:64008400-64011000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:64008400-64011000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr14:64008400-64011200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:64008400-64011200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:64008400-64011200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr14:64008400-64011200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:64008400-64011200	Active TSS	Fetal Kidney	kidney
28	chr14:64008400-64011200	Active TSS	Fetal Stomach	stomach
29	chr14:64008400-64011200	Active TSS	HSMM	muscle
30	chr14:64008400-64011400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr14:64008400-64011400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr14:64008400-64011600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:64008400-64011600	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr14:64008400-64011600	Active TSS	A549	lung
35	chr14:64008400-64011600	Active TSS	K562	blood
36	chr14:64008400-64011600	Active TSS	NH-A	brain
37	chr14:64008400-64011600	Active TSS	NHDF-Ad	bronchial
38	chr14:64008400-64011800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:64008600-64009600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr14:64008600-64009600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr14:64008600-64010000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:64008600-64011000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr14:64008600-64011000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:64008600-64011000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:64008600-64011000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr14:64008600-64011000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:64008600-64011000	Active TSS	Aorta	Aorta
48	chr14:64008600-64011000	Active TSS	Brain Hippocampus Middle	brain
49	chr14:64008600-64011200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:64008600-64011200	Active TSS	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links