Variant report

Variant	rs12891283
Chromosome Location	chr14:35452160-35452161
allele	C/T
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	TCF12	chr14:35451434-35452416	GM12878	blood:	n/a	n/a
2	CHD2	chr14:35451317-35452461	H1-hESC	embryonic stem cell:	n/a	n/a
3	PBX3	chr14:35451367-35452510	SK-N-SH	brain:	n/a	chr14:35451593-35451613
4	MAX	chr14:35451081-35452563	K562	blood:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
5	POLR2A	chr14:35451025-35452539	GM12892	blood:	n/a	n/a
6	POLR2A	chr14:35451112-35452534	HepG2	liver:	n/a	n/a
7	RAD21	chr14:35451471-35452341	H1-hESC	embryonic stem cell:	n/a	chr14:35452231-35452245
8	YY1	chr14:35451898-35452474	SK-N-SH_RA	brain:	n/a	n/a
9	EGR1	chr14:35451933-35452317	K562	blood:	n/a	n/a
10	GABPA	chr14:35451598-35452367	GM12878	blood:	n/a	chr14:35451772-35451786 chr14:35452139-35452146 chr14:35451774-35451783 chr14:35451772-35451781 chr14:35451769-35451783 chr14:35451772-35451783
11	TAF1	chr14:35451230-35452331	SK-N-SH	brain:	n/a	n/a
12	REST	chr14:35451504-35452406	HepG2	liver:	n/a	chr14:35451922-35451935 chr14:35451794-35451807
13	NFIC	chr14:35451401-35452493	ECC-1	luminal epithelium:	n/a	n/a
14	SPI1	chr14:35452043-35452192	K562	blood:	n/a	chr14:35452137-35452150 chr14:35452139-35452148 chr14:35452136-35452149
15	TBP	chr14:35451336-35452731	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr14:35451369-35452713	HepG2	liver:	n/a	n/a
17	IRF1	chr14:35451495-35452461	K562	blood:	n/a	chr14:35451835-35451849 chr14:35452049-35452063 chr14:35452044-35452064 chr14:35452048-35452062 chr14:35452050-35452070 chr14:35452052-35452063 chr14:35452049-35452066 chr14:35452051-35452068 chr14:35452050-35452063 chr14:35452052-35452062 chr14:35452050-35452064 chr14:35452051-35452063 chr14:35452050-35452063 chr14:35452050-35452063 chr14:35452053-35452064 chr14:35452052-35452066 chr14:35452051-35452065 chr14:35452056-35452069 chr14:35452050-35452063
18	POLR2A	chr14:35451015-35452569	GM12892	blood:	n/a	n/a
19	SP2	chr14:35451387-35452950	HepG2	liver:	n/a	n/a
20	CHD2	chr14:35451361-35452683	HepG2	liver:	n/a	n/a
21	ELF1	chr14:35451390-35452569	HepG2	liver:	n/a	chr14:35452139-35452148 chr14:35452134-35452143
22	ELF1	chr14:35451032-35452552	GM12878	blood:	n/a	chr14:35452139-35452148 chr14:35452134-35452143
23	FOSL2	chr14:35451766-35452173	A549	lung:	n/a	n/a
24	MYC	chr14:35451030-35452613	K562	blood:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
25	EP300	chr14:35451451-35452267	T-47D	breast:	n/a	n/a
26	FOXA1	chr14:35451343-35452594	HepG2	liver:	n/a	n/a
27	EP300	chr14:35451466-35452338	A549	lung:	n/a	n/a
28	ZEB1	chr14:35451464-35452323	GM12878	blood:	n/a	chr14:35452095-35452103
29	POLR2A	chr14:35449987-35452510	HepG2	liver:	n/a	n/a
30	MXI1	chr14:35450443-35452921	GM12878	blood:	n/a	n/a
31	CUX1	chr14:35451395-35452409	GM12878	blood:	n/a	n/a
32	HA-E2F1	chr14:35451123-35452656	MCF-7	breast:	n/a	chr14:35452436-35452443 chr14:35452436-35452443 chr14:35452431-35452446 chr14:35452435-35452447 chr14:35452435-35452444 chr14:35451773-35451782 chr14:35452436-35452443
33	BRCA1	chr14:35451531-35452399	GM12878	blood:	n/a	n/a
34	FOXP2	chr14:35451670-35452322	SK-N-MC	brain:	n/a	n/a
35	TAF1	chr14:35451494-35452266	GM12892	blood:	n/a	n/a
36	POLR2A	chr14:35451298-35452651	HL-60	blood:	n/a	n/a
37	RAD21	chr14:35450487-35452602	IMR90	lung:	n/a	chr14:35452231-35452245
38	ZNF143	chr14:35451001-35452390	K562	blood:	n/a	n/a
39	MAX	chr14:35451135-35452411	Hela-S3	cervix:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
40	RAD21	chr14:35451287-35452427	HepG2	liver:	n/a	chr14:35452231-35452245
41	POLR2A	chr14:35451194-35452577	GM15510	blood:	n/a	n/a
42	MAX	chr14:35450382-35452619	NB4	blood:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
43	POLR2A	chr14:35450835-35453495	H1-hESC	embryonic stem cell:	n/a	n/a
44	MXI1	chr14:35451579-35452467	K562	blood:	n/a	n/a
45	IRF4	chr14:35451509-35452452	GM12878	blood:	n/a	chr14:35452050-35452064
46	MAX	chr14:35451270-35452571	H1-hESC	embryonic stem cell:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
47	USF1	chr14:35451576-35452292	SK-N-SH	brain:	n/a	chr14:35451857-35451870 chr14:35451658-35451674
48	POLR2A	chr14:35451287-35452785	HepG2	liver:	n/a	n/a
49	ZNF143	chr14:35451479-35452514	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF3	chr14:35451382-35452359	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:35452110-35452160	NH-A	brain:	n/a
2	chr14:35452110-35452160	HUVEC	blood vessel:	n/a
3	chr14:35452110-35452160	SK-N-SH	brain:	n/a
4	chr14:35452110-35452160	HRE	kidney:	n/a
5	chr14:35452110-35452160	Hepatocyte	liver:	n/a
6	chr14:35452110-35452160	K562	blood:	n/a
7	chr14:35452110-35452160	ProgFib	skin:	n/a
8	chr14:35452110-35452160	MCF10A-Er-Src	breast:	n/a
9	chr14:35452110-35452160	PFSK-1	brain:	n/a
10	chr14:35452110-35452160	HL-60	blood:	n/a
11	chr14:35452110-35452160	GM06990	blood:	n/a
12	chr14:35452110-35452160	HEEpiC	esophagus:	n/a
13	chr14:35452110-35452160	SAEC	small airway:	n/a
14	chr14:35452110-35452160	MCF-7	breast:	n/a
15	chr14:35452110-35452160	U87	brain:	n/a
16	chr14:35452110-35452160	AG09319	gingival:	n/a
17	chr14:35452110-35452160	AG04449	skin:	fetal
18	chr14:35452110-35452160	PrEC	prostate:	n/a
19	chr14:35452110-35452160	HCT-116	colon:	n/a
20	chr14:35452110-35452160	SK-N-SH_RA	brain:	n/a
21	chr14:35452110-35452160	A549	lung:	n/a
22	chr14:35452110-35452160	HMEC	breast:	n/a
23	chr14:35452110-35452160	HCPEpiC	choroid plexus:	n/a
24	chr14:35452110-35452160	AoSMC	blood vessel:	n/a
25	chr14:35452110-35452160	AG09309	skin:	n/a
26	chr14:35452110-35452160	PANC-1	pancreas:	n/a
27	chr14:35452110-35452160	Hela-S3	cervix:	n/a
28	chr14:35452110-35452160	NB4	blood:	n/a
29	chr14:35452110-35452160	HEK293	kidney:	embryo
30	chr14:35452110-35452160	ovcar-3	ovarian:	n/a
31	chr14:35452110-35452160	SK-N-MC	brain:	n/a
32	chr14:35452110-35452160	IMR90	lung:	fetal
33	chr14:35452110-35452160	HCM	heart:	n/a
34	chr14:35452110-35452160	T-47D	breast:	n/a
35	chr14:35452110-35452160	GM12878	blood:	n/a
36	chr14:35452110-35452160	GM12892	blood:	n/a
37	chr14:35452110-35452160	NHDF-neo	bronchial:	n/a
38	chr14:35452110-35452160	BE2_C	brain:	n/a
39	chr14:35452110-35452160	GM12891	blood:	n/a
40	chr14:35452110-35452160	SKMC	muscle:	n/a
41	chr14:35452110-35452160	Caco-2	colon:	n/a
42	chr14:35452110-35452160	HRCEpiC	kidney:	n/a
43	chr14:35452110-35452160	NHBE	bronchial:	n/a
44	chr14:35452110-35452160	AG04450	lung:	fetal
45	chr14:35452110-35452160	GM19239	blood:	n/a
46	chr14:35452110-35452160	ECC-1	luminal epithelium:	n/a
47	chr14:35452110-35452160	HRPEpiC	eye:	n/a
48	chr14:35452110-35452160	LNCaP	prostate:	n/a
49	chr14:35452110-35452160	HNPCEpiC	eye:	n/a
50	chr14:35452110-35452160	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35449513..35454029-chr14:35868261..35874094,7	MCF-7	breast:
2	chr14:35449656..35453109-chr14:35514529..35517063,4	MCF-7	breast:
3	chr14:35450596..35455465-chr14:35514082..35520003,7	MCF-7	breast:
4	chr14:35452133..35453716-chr14:35873041..35875070,2	K562	blood:
5	chr12:46766054..46766614-chr14:35451546..35452273,2	Hela-S3	cervix:
6	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
7	chr14:35451626..35452173-chr16:74734654..74735645,2	Hela-S3	cervix:
8	chr14:35451886..35454032-chr4:69771560..69773312,2	MCF-7	breast:
9	chr14:35450099..35453742-chr14:35513316..35517237,10	K562	blood:
10	chr14:35450376..35452323-chr14:35627573..35629639,2	K562	blood:
11	chr1:161147107..161147971-chr14:35451769..35452587,2	Hela-S3	cervix:
12	chr14:35341948..35345853-chr14:35449382..35453241,7	K562	blood:
13	chr14:35450245..35452169-chr14:35590215..35593362,3	MCF-7	breast:
14	chr14:35450146..35454994-chr14:35588530..35593322,8	MCF-7	breast:
15	chr14:35451366..35453471-chr14:35871625..35875238,3	MCF-7	breast:
16	chr14:35450042..35454830-chr14:35589505..35593708,8	K562	blood:
17	chr1:6452943..6453799-chr14:35451965..35452803,2	Hela-S3	cervix:
18	chr14:35341141..35345954-chr14:35450498..35453739,11	K562	blood:
19	chr14:35450019..35452754-chr14:35591061..35594828,4	K562	blood:
20	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
21	chr14:35452096..35452608-chr5:38845624..38846439,2	Hela-S3	cervix:
22	chr14:35451354..35452438-chr14:64971301..64972306,3	Hela-S3	cervix:
23	chr14:35449839..35454578-chr14:35513316..35515954,7	K562	blood:
24	chr1:116518333..116519266-chr14:35451605..35452534,2	Hela-S3	cervix:
25	chr14:35451762..35452508-chr19:18111810..18112416,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000258704	TF binding region
SRP54	TF binding region
SRP54	CpG island
ENSG00000258704	CpG island
ENSG00000258790	Chromatin interaction
ENSG00000272626	Chromatin interaction
ENSG00000168404	Chromatin interaction
ENSG00000163393	Chromatin interaction
ENSG00000145623	Chromatin interaction
ENSG00000249740	Chromatin interaction
ENSG00000097021	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000271746	Chromatin interaction
ENSG00000151327	Chromatin interaction
ENSG00000105643	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000259090	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000092020	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10130702	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10130877	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10130911	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10132452	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10133628	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10135024	0.97[ASN][1000 genomes]
rs10135457	0.96[ASN][1000 genomes]
rs10135654	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10143040	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10143749	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10145490	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10147046	0.96[ASN][1000 genomes]
rs10148463	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10149083	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10151096	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151445	0.98[ASN][1000 genomes]
rs1028447	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12050394	0.84[ASN][1000 genomes]
rs12433712	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12434719	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437158	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12586945	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589238	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12590905	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12878315	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12878685	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12878970	0.95[ASN][1000 genomes]
rs12881501	0.86[ASN][1000 genomes]
rs12882728	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12886340	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12887073	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12887279	0.96[ASN][1000 genomes]
rs12891473	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17102982	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1955437	0.94[ASN][1000 genomes]
rs2250579	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2273155	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2383691	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2383692	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2383694	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28373866	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28479817	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs28627922	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28656938	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs34793309	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35523754	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35768136	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3759549	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4386037	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4981256	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4981257	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4982231	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4982232	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55670220	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs57787567	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6571691	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7144898	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7147346	0.96[ASN][1000 genomes]
rs7154181	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7158547	0.95[ASN][1000 genomes]
rs7159696	0.97[ASN][1000 genomes]
rs72474105	0.89[ASN][1000 genomes]
rs8004237	0.95[ASN][1000 genomes]
rs8005641	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8006578	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8006908	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8009854	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012308	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8015059	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8015200	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8017611	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8018702	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8018761	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8020050	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8021502	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9322942	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
2	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
14	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12891283	SRP54	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35449600-35452800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr14:35449600-35453000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:35449800-35452800	Active TSS	Hela-S3	cervix
4	chr14:35449800-35453000	Active TSS	NHEK	skin
5	chr14:35449800-35453000	Active TSS	Osteobl	bone
6	chr14:35449800-35453200	Active TSS	NHDF-Ad	bronchial
7	chr14:35449800-35453400	Active TSS	GM12878-XiMat	blood
8	chr14:35449800-35453600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:35449800-35453600	Active TSS	NHLF	lung
10	chr14:35449800-35455400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:35450000-35452800	Active TSS	HMEC	breast
12	chr14:35450000-35453000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr14:35450000-35453000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:35450000-35453000	Active TSS	Brain Angular Gyrus	brain
15	chr14:35450000-35453000	Active TSS	Fetal Intestine Large	intestine
16	chr14:35450000-35453000	Active TSS	A549	lung
17	chr14:35450000-35453200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:35450000-35453200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:35450000-35453200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr14:35450000-35453200	Active TSS	NH-A	brain
21	chr14:35450000-35453400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr14:35450000-35453600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:35450000-35453600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr14:35450200-35452800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:35450200-35453000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:35450200-35453000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:35450200-35453000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr14:35450200-35453000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:35450200-35453000	Active TSS	Fetal Intestine Small	intestine
30	chr14:35450200-35453000	Active TSS	Stomach Mucosa	stomach
31	chr14:35450200-35453000	Bivalent/Poised TSS	HepG2	liver
32	chr14:35450200-35453200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr14:35450200-35453200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:35450200-35453200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr14:35450200-35453200	Active TSS	Aorta	Aorta
36	chr14:35450200-35453200	Active TSS	HSMM	muscle
37	chr14:35450200-35453400	Active TSS	Right Atrium	heart
38	chr14:35450200-35453600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:35450200-35453600	Active TSS	Colonic Mucosa	Colon
40	chr14:35450200-35453800	Active TSS	K562	blood
41	chr14:35450400-35452200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:35450400-35452400	Active TSS	Thymus	Thymus
43	chr14:35450400-35452800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:35450400-35452800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr14:35450400-35453000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:35450400-35453000	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr14:35450400-35453000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:35450400-35453000	Active TSS	Fetal Stomach	stomach
49	chr14:35450400-35453000	Active TSS	Fetal Thymus	thymus
50	chr14:35450400-35453000	Active TSS	Sigmoid Colon	Sigmoid Colon

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