Variant report

Variant	rs8015548
Chromosome Location	chr14:47121179-47121180
allele	A/G
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	CTCF	chr14:47121100-47121250	HCFaa	heart:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
2	CTCF	chr14:47121159-47121268	GM19238	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
3	CTCF	chr14:47121126-47121267	GM12878	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
4	CTCF	chr14:47121142-47121289	HepG2	liver:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
5	CTCF	chr14:47121175-47121256	Fibrobl	skin:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
6	CTCF	chr14:47121120-47121270	GM12867	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
7	CTCF	chr14:47121140-47121290	A549	lung:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
8	CTCF	chr14:47121153-47121259	HUVEC	blood vessel:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
9	CTCF	chr14:47121140-47121290	AG09309	skin:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
10	CTCF	chr14:47121140-47121290	GM12874	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
11	CTCF	chr14:47121120-47121270	SK-N-SH_RA	brain:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
12	CTCF	chr14:47121080-47121230	SAEC	small airway:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
13	CTCF	chr14:47121149-47121275	MCF-7	breast:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
14	CTCF	chr14:47121140-47121290	GM12871	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
15	RAD21	chr14:47120947-47121294	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr14:47121140-47121290	Caco-2	colon:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
17	ZNF143	chr14:47121009-47121331	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr14:47121089-47121317	A549	lung:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
19	CTCF	chr14:47121140-47121290	HRE	kidney:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
20	CTCF	chr14:47121120-47121270	WERI-Rb-1	eye:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
21	CTCF	chr14:47121160-47121310	HBMEC	blood vessel:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
22	CTCF	chr14:47121100-47121250	GM12878	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
23	CTCF	chr14:47121160-47121310	HRPEpiC	eye:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
24	CTCF	chr14:47121060-47121210	GM12878	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
25	CTCF	chr14:47121100-47121250	A549	lung:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
26	CTCF	chr14:47120968-47121362	H1-hESC	embryonic stem cell:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
27	ZNF143	chr14:47121087-47121302	K562	blood:	n/a	n/a
28	CTCF	chr14:47121008-47121353	SK-N-SH	brain:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
29	RAD21	chr14:47121056-47121313	K562	blood:	n/a	n/a
30	CTCF	chr14:47121159-47121229	GM12892	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
31	CTCF	chr14:47121119-47121293	K562	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
32	CTCF	chr14:47121126-47121276	GM12891	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
33	CTCF	chr14:47121100-47121250	GM12873	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
34	CTCF	chr14:47121043-47121293	K562	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
35	CTCF	chr14:47121120-47121270	GM12873	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
36	CTCF	chr14:47121171-47121252	Hela-S3	cervix:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
37	CTCF	chr14:47121160-47121310	HMF	breast:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
38	RAD21	chr14:47121120-47121239	K562	blood:	n/a	n/a
39	CTCF	chr14:47121100-47121250	WI-38	lung:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
40	CTCF	chr14:47121160-47121310	GM12868	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
41	CTCF	chr14:47121160-47121310	HCT-116	colon:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
42	CTCF	chr14:47121160-47121310	BE2_C	brain:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
43	CTCF	chr14:47121120-47121270	GM12864	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
44	GTF2F1	chr14:47121172-47121274	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr14:47121140-47121290	GM06990	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
46	CTCF	chr14:47121100-47121250	HAc	cerebellar:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
47	CTCF	chr14:47121120-47121270	GM12874	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
48	CTCF	chr14:47121111-47121336	LNCaP	prostate:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
49	CTCF	chr14:47121100-47121250	AG04449	skin:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
50	CTCF	chr14:47121131-47121276	MCF-7	breast:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:47121132-47121182	AG09309	skin:	n/a
2	chr14:47121156-47121206	IMR90	lung:	fetal
3	chr14:47121132-47121182	NHDF-neo	bronchial:	n/a
4	chr14:47121132-47121182	ovcar-3	ovarian:	n/a
5	chr14:47121132-47121182	SK-N-SH	brain:	n/a
6	chr14:47121156-47121206	AG04449	skin:	fetal
7	chr14:47121156-47121206	CMK	blood:	n/a
8	chr14:47121158-47121208	RPTEC	kidney:	n/a
9	chr14:47121156-47121206	HL-60	blood:	n/a
10	chr14:47121132-47121182	BJ	skin:	n/a
11	chr14:47121158-47121208	SAEC	small airway:	n/a
12	chr14:47121156-47121206	MCF10A-Er-Src	breast:	n/a
13	chr14:47121156-47121206	ProgFib	skin:	n/a
14	chr14:47121132-47121182	HepG2	liver:	n/a
15	chr14:47121156-47121206	HCM	heart:	n/a
16	chr14:47121158-47121208	PFSK-1	brain:	n/a
17	chr14:47121156-47121206	SK-N-MC	brain:	n/a
18	chr14:47121158-47121208	AG10803	skin:	n/a
19	chr14:47121132-47121182	HMEC	breast:	n/a
20	chr14:47121132-47121182	PFSK-1	brain:	n/a
21	chr14:47121132-47121182	Hela-S3	cervix:	n/a
22	chr14:47121156-47121206	SK-N-SH	brain:	n/a
23	chr14:47121156-47121206	NHBE	bronchial:	n/a
24	chr14:47121158-47121208	H1-hESC	embryonic stem cell:	embryo
25	chr14:47121132-47121182	A549	lung:	n/a
26	chr14:47121156-47121206	A549	lung:	n/a
27	chr14:47121156-47121206	U87	brain:	n/a
28	chr14:47121156-47121206	HNPCEpiC	eye:	n/a
29	chr14:47121158-47121208	HIPEpiC	eye:	n/a
30	chr14:47121132-47121182	RPTEC	kidney:	n/a
31	chr14:47121132-47121182	CMK	blood:	n/a
32	chr14:47121156-47121206	HMEC	breast:	n/a
33	chr14:47121158-47121208	AG04449	skin:	fetal
34	chr14:47121158-47121208	HCT-116	colon:	n/a
35	chr14:47121132-47121182	NHBE	bronchial:	n/a
36	chr14:47121156-47121206	NB4	blood:	n/a
37	chr14:47121132-47121182	U87	brain:	n/a
38	chr14:47121132-47121182	GM19239	blood:	n/a
39	chr14:47121132-47121182	NT2-D1	testis:	n/a
40	chr14:47121156-47121206	HRCEpiC	kidney:	n/a
41	chr14:47121156-47121206	AoSMC	blood vessel:	n/a
42	chr14:47121158-47121208	GM06990	blood:	n/a
43	chr14:47121156-47121206	ovcar-3	ovarian:	n/a
44	chr14:47121158-47121208	ovcar-3	ovarian:	n/a
45	chr14:47121158-47121208	A549	lung:	n/a
46	chr14:47121156-47121206	Hela-S3	cervix:	n/a
47	chr14:47121158-47121208	BE2_C	brain:	n/a
48	chr14:47121156-47121206	HCT-116	colon:	n/a
49	chr14:47121132-47121182	MCF10A-Er-Src	breast:	n/a
50	chr14:47121156-47121206	LNCaP	prostate:	n/a

Variant related genes	Relation type
RPL10L	TF binding region
RPL10L	CpG island

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10134127	0.90[EUR][1000 genomes]
rs10141379	0.90[EUR][1000 genomes]
rs10147858	0.91[EUR][1000 genomes]
rs1020897	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10467720	0.90[EUR][1000 genomes]
rs10782412	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11847234	0.90[EUR][1000 genomes]
rs12887038	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12887571	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12896331	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381641	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1462390	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1462398	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1472242	0.80[ASN][1000 genomes]
rs1494091	0.86[EUR][1000 genomes]
rs1599585	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1602993	0.90[EUR][1000 genomes]
rs2045745	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2167583	0.91[EUR][1000 genomes]
rs2199459	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2219684	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2642088	0.90[EUR][1000 genomes]
rs2817527	0.81[EUR][1000 genomes]
rs2817536	0.85[EUR][1000 genomes]
rs360181	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs360182	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs360183	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs360184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs360185	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs360192	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs360193	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs414929	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4459473	0.88[EUR][1000 genomes]
rs7156303	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8003496	0.80[ASN][1000 genomes]
rs8012230	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8014441	0.90[EUR][1000 genomes]
rs8021656	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751278	chr14:46718250-47225891	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv901863	chr14:46797353-47247399	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2829996	chr14:46799990-47344432	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901870	chr14:46825242-47125523	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv542086	chr14:46905406-47662394	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv517764	chr14:47083005-47419867	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv983821	chr14:47120439-47121203	Strong transcription Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47111400-47123200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:47119400-47121200	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr14:47120600-47121400	ZNF genes & repeats	Fetal Intestine Small	intestine

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