Variant report

Variant	rs1063391
Chromosome Location	chr14:65008251-65008252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:65008160-65008310	HFF	foreskin:	n/a	n/a
2	CTCF	chr14:65008180-65008330	HRE	kidney:	n/a	n/a
3	CTCF	chr14:65008160-65008310	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr14:65008180-65008330	SAEC	small airway:	n/a	n/a
5	ZNF263	chr14:65006895-65008475	HEK293-T-REx	kidney:	n/a	chr14:65007038-65007059 chr14:65007052-65007061
6	CTCF	chr14:65008180-65008330	AG10803	skin:	n/a	n/a
7	ELF1	chr14:65006533-65009416	MCF-7	breast:	n/a	chr14:65007278-65007290
8	POLR2A	chr14:65006017-65008275	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:65008180-65008330	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr14:65008240-65008390	HBMEC	blood vessel:	n/a	n/a
11	SETDB1	chr14:65007073-65009454	U2OS	brain:	n/a	n/a
12	POLR2A	chr14:65006689-65008640	IMR90	lung:	n/a	n/a
13	CTCF	chr14:65008160-65008310	AG10803	skin:	n/a	n/a
14	CTCF	chr14:65008180-65008330	BJ	skin:	n/a	n/a
15	CTCF	chr14:65008240-65008390	NHEK	skin:	n/a	n/a
16	CTCF	chr14:65008201-65008433	NHEK	skin:	n/a	n/a
17	CTCF	chr14:65008240-65008390	GM12870	blood:	n/a	n/a
18	CTCF	chr14:65008120-65008270	AG04449	skin:	n/a	n/a
19	CTCF	chr14:65008220-65008370	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr14:65008180-65008330	HCPEpiC	choroid plexus:	n/a	n/a
21	POLR2A	chr14:65006011-65009255	MCF-7	breast:	n/a	n/a
22	MAX	chr14:65005732-65008534	A549	lung:	n/a	n/a
23	CTCF	chr14:65008180-65008330	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr14:65008200-65008350	BJ	skin:	n/a	n/a
25	CTCF	chr14:65008160-65008310	NHEK	skin:	n/a	n/a
26	CTCF	chr14:65008120-65008270	AG09309	skin:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65006961..65009286-chr14:65016299..65018796,2	K562	blood:
2	chr14:65007817..65010307-chr14:65107845..65109704,2	MCF-7	breast:
3	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
4	chr14:65006752..65008464-chr14:65051582..65054161,2	MCF-7	breast:
5	chr14:64803941..64806112-chr14:65005957..65008329,2	MCF-7	breast:
6	chr14:65005373..65008937-chr14:65014849..65020282,8	MCF-7	breast:
7	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259116	TF binding region
ENSG00000165807	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000214770	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10143672	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10143906	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11848114	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12432891	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256146	0.85[CHB][hapmap]
rs1256148	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs12589307	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs12889677	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13329053	0.88[LWK][hapmap]
rs1542312	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038272	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2045022	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2100362	0.96[CEU][hapmap];0.84[JPT][hapmap]
rs2123461	0.96[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs2123463	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[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];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2167765	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2218994	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs35790370	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4313734	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151976	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154937	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8006695	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8011038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8018735	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020083	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020783	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8022447	0.85[CHB][hapmap];0.81[CHD][hapmap]

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	esv3390097	chr14:65002586-65009255	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1063391	CEP70	trans	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65005800-65010200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:65005800-65011600	Active TSS	Brain Anterior Caudate	brain
3	chr14:65005800-65012000	Active TSS	Brain Angular Gyrus	brain
4	chr14:65005800-65012000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:65006000-65008600	Active TSS	Right Atrium	heart
6	chr14:65006000-65010400	Active TSS	Aorta	Aorta
7	chr14:65006000-65011400	Active TSS	Colon Smooth Muscle	Colon
8	chr14:65006000-65012000	Active TSS	Brain Substantia Nigra	brain
9	chr14:65006200-65010200	Active TSS	Psoas Muscle	Psoas
10	chr14:65006400-65012000	Active TSS	Brain Cingulate Gyrus	brain
11	chr14:65006400-65012400	Active TSS	Brain Hippocampus Middle	brain
12	chr14:65007200-65008400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:65007400-65009000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:65007400-65009200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:65007400-65009200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr14:65007400-65009400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr14:65007400-65009400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr14:65007400-65009400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr14:65007400-65009400	Flanking Active TSS	Pancreas	Pancrea
20	chr14:65007400-65009400	Flanking Active TSS	Right Ventricle	heart
21	chr14:65007400-65009600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:65007400-65009600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr14:65007400-65009600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr14:65007400-65009600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr14:65007400-65010200	Bivalent/Poised TSS	Fetal Kidney	kidney
26	chr14:65007600-65008400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:65007600-65008600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:65007600-65008600	Flanking Bivalent TSS/Enh	Placenta	Placenta
29	chr14:65007600-65008600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr14:65007600-65008600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr14:65007600-65008600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr14:65007600-65008600	Bivalent/Poised TSS	NHDF-Ad	bronchial
33	chr14:65007600-65008800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:65007600-65009000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr14:65007600-65009000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:65007600-65009000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr14:65007600-65009000	ZNF genes & repeats	HSMM	muscle
38	chr14:65007600-65009200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:65007600-65009200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:65007600-65009200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:65007600-65009200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr14:65007600-65009200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:65007600-65009200	Flanking Active TSS	Gastric	stomach
44	chr14:65007600-65009200	Flanking Active TSS	Lung	lung
45	chr14:65007600-65009400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr14:65007600-65009400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr14:65007600-65009400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr14:65007600-65009400	Flanking Bivalent TSS/Enh	Spleen	Spleen
49	chr14:65007600-65009400	Bivalent/Poised TSS	NHLF	lung
50	chr14:65007600-65009600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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