Variant report

Variant	rs13134106
Chromosome Location	chr4:1302902-1302903
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	MAZ	chr4:1302815-1304116	IMR90	lung:	n/a	chr4:1303183-1303194 chr4:1303183-1303194 chr4:1303184-1303193
2	RFX5	chr4:1302818-1302974	HepG2	liver:	n/a	n/a
3	MTA3	chr4:1302859-1303514	GM12878	blood:	n/a	n/a
4	MXI1	chr4:1302485-1304021	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr4:1302885-1303437	GM12878	blood:	n/a	n/a
6	USF2	chr4:1302835-1303467	H1-hESC	embryonic stem cell:	n/a	chr4:1303183-1303192 chr4:1303184-1303193 chr4:1303274-1303290 chr4:1303184-1303193
7	USF1	chr4:1302855-1303530	SK-N-SH	brain:	n/a	chr4:1303183-1303192 chr4:1303182-1303193 chr4:1303184-1303193 chr4:1303274-1303290 chr4:1303184-1303193
8	TAF1	chr4:1302843-1303675	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr4:1302887-1304052	HepG2	liver:	n/a	chr4:1303183-1303194 chr4:1303183-1303194 chr4:1303184-1303193
10	POLR2A	chr4:1302796-1303939	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr4:1302901-1303527	SK-N-SH	brain:	n/a	n/a
12	MAX	chr4:1302825-1303574	SK-N-SH	brain:	n/a	chr4:1303183-1303194 chr4:1303183-1303194 chr4:1303184-1303193
13	GABPA	chr4:1302793-1303616	SK-N-SH	brain:	n/a	chr4:1303390-1303404
14	BHLHE40	chr4:1302742-1303785	HepG2	liver:	n/a	chr4:1303183-1303192 chr4:1303184-1303193 chr4:1303274-1303290 chr4:1303184-1303193
15	CTCF	chr4:1302840-1302990	AoAF	blood vessel:	n/a	n/a
16	POLR2A	chr4:1302733-1303994	PFSK-1	brain:	n/a	n/a
17	TEAD4	chr4:1302871-1303287	H1-hESC	embryonic stem cell:	n/a	n/a
18	GABPA	chr4:1302881-1303453	SK-N-SH	brain:	n/a	chr4:1303390-1303404
19	POLR2A	chr4:1302895-1303581	GM12891	blood:	n/a	n/a
20	POLR2A	chr4:1302584-1303838	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr4:1302887-1303779	HepG2	liver:	n/a	n/a
22	USF1	chr4:1302837-1303534	SK-N-SH	brain:	n/a	chr4:1303183-1303192 chr4:1303182-1303193 chr4:1303184-1303193 chr4:1303274-1303290 chr4:1303184-1303193
23	POLR2A	chr4:1302783-1303158	K562	blood:	n/a	n/a
24	POLR2A	chr4:1302230-1303927	HepG2	liver:	n/a	n/a
25	USF1	chr4:1302869-1303431	SK-N-SH_RA	brain:	n/a	chr4:1303183-1303192 chr4:1303182-1303193 chr4:1303184-1303193 chr4:1303274-1303290 chr4:1303184-1303193
26	TBP	chr4:1302760-1303571	HepG2	liver:	n/a	n/a
27	MAX	chr4:1302873-1304012	HepG2	liver:	n/a	chr4:1303183-1303194 chr4:1303183-1303194 chr4:1303184-1303193
28	SP1	chr4:1302900-1303552	H1-hESC	embryonic stem cell:	n/a	chr4:1303208-1303219 chr4:1303506-1303515 chr4:1303246-1303256 chr4:1303504-1303516 chr4:1303505-1303514 chr4:1303258-1303269 chr4:1303357-1303371 chr4:1303376-1303390 chr4:1303504-1303516

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1300397..1304694-chr4:1319400..1323043,4	K562	blood:

Variant related genes	Relation type
MAEA	TF binding region
ENSG00000090316	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11247983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11247984	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11247986	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11247987	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11247994	0.83[JPT][hapmap]
rs11247996	0.83[JPT][hapmap]
rs11721789	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs11726778	0.81[EUR][1000 genomes]
rs11727167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11730939	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11735340	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12499546	0.86[CEU][hapmap]
rs12502916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12508446	0.92[CEU][hapmap]
rs12509700	0.88[EUR][1000 genomes]
rs12512607	1.00[YRI][hapmap]
rs12641735	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs12642396	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12642410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12647145	0.89[CHB][hapmap]
rs13108904	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13109112	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13110563	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs13112706	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];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13115173	0.92[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs13119532	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13124383	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13124847	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13125338	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13125842	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13128045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13135102	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13141992	0.83[JPT][hapmap]
rs13142772	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13149575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs13149715	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13149952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13150571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1316393	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1316394	0.80[ASN][1000 genomes]
rs1316419	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1564508	0.85[CEU][hapmap]
rs1618072	0.81[EUR][1000 genomes]
rs1680073	0.86[CEU][hapmap]
rs1680074	0.86[CEU][hapmap]
rs1732100	0.86[CEU][hapmap]
rs1732107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1732123	0.81[EUR][1000 genomes]
rs1732124	0.81[EUR][1000 genomes]
rs1960426	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2199956	0.85[CEU][hapmap]
rs2279281	0.85[CEU][hapmap]
rs2291199	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs2293633	0.83[EUR][1000 genomes]
rs2293635	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2335855	0.85[CEU][hapmap]
rs28811276	0.81[EUR][1000 genomes]
rs35201724	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35233550	0.85[ASN][1000 genomes]
rs3755920	0.85[CEU][hapmap]
rs3775099	1.00[YRI][hapmap]
rs3796616	0.84[JPT][hapmap];1.00[YRI][hapmap]
rs3915420	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4045131	1.00[YRI][hapmap]
rs4246685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4405964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4428235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4493483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4493484	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4516656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4519749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4591539	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4642180	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4974574	1.00[YRI][hapmap]
rs4974582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4974594	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs4974596	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4974602	0.84[JPT][hapmap];1.00[YRI][hapmap]
rs4974603	0.84[JPT][hapmap]
rs6822570	0.84[JPT][hapmap];1.00[YRI][hapmap]
rs6826029	0.89[EUR][1000 genomes]
rs6826415	0.83[JPT][hapmap]
rs6851528	0.84[EUR][1000 genomes]
rs7668661	0.89[EUR][1000 genomes]
rs7670046	0.85[EUR][1000 genomes]
rs7671242	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7673398	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs7695691	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs900027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs900028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs900029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs922698	0.85[CEU][hapmap]
rs9631804	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
6	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
9	nsv997971	chr4:1191256-1518521	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv461155	chr4:1203265-1352685	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
11	nsv593281	chr4:1203265-1352685	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv1002097	chr4:1212573-1320086	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv536986	chr4:1212573-1320086	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
14	nsv593298	chr4:1244267-1342521	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv461156	chr4:1254930-1312394	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv593299	chr4:1254930-1312394	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv593300	chr4:1272664-1312394	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv878338	chr4:1277826-1358449	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
19	nsv878339	chr4:1277826-1363886	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	nsv878340	chr4:1277826-1386570	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv878341	chr4:1277826-1391400	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
22	nsv1002635	chr4:1282603-1402761	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
23	nsv878342	chr4:1291337-1363886	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
24	nsv878343	chr4:1291337-1391400	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
25	nsv878344	chr4:1291337-1414684	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
26	nsv878345	chr4:1291337-1563920	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
27	nsv461157	chr4:1300077-1352685	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
28	nsv593301	chr4:1300077-1352685	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
29	nsv878346	chr4:1300077-1363886	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
30	nsv878347	chr4:1300077-1866358	Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
31	esv3440400	chr4:1301202-1303700	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs13134106	UVSSA	cis	Thyroid	GTEx
rs13134106	CRIPAK	cis	Thyroid	GTEx
rs13134106	MAEA	cis	Thyroid	GTEx
rs13134106	UVSSA	cis	Whole Blood	GTEx
rs13134106	UVSSA	cis	Stomach	GTEx
rs13134106	CTBP1	cis	multi-tissue	Pritchard
rs13134106	UVSSA	cis	Skin Sun Exposed Lower leg	GTEx
rs13134106	CTBP1	Cis_1M	lymphoblastoid	RTeQTL
rs13134106	MAEA	cis	Nerve Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1285200-1303400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:1292000-1303400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:1293200-1312000	Weak transcription	Hela-S3	cervix
4	chr4:1293800-1303400	Weak transcription	Aorta	Aorta
5	chr4:1295200-1303400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:1295200-1303400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:1299000-1306400	Weak transcription	A549	lung
8	chr4:1301800-1303000	Enhancers	Left Ventricle	heart
9	chr4:1301800-1303000	Enhancers	Right Ventricle	heart
10	chr4:1301800-1303400	Enhancers	Esophagus	oesophagus
11	chr4:1301800-1305800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr4:1301800-1306000	Genic enhancers	Spleen	Spleen
13	chr4:1302000-1303000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr4:1302000-1303000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:1302000-1303000	Enhancers	Placenta	Placenta
16	chr4:1302000-1303400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:1302200-1303000	Enhancers	Primary B cells from peripheral blood	blood
18	chr4:1302200-1303000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:1302200-1303000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:1302200-1303000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:1302200-1303200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:1302200-1303200	Enhancers	Small Intestine	intestine
23	chr4:1302200-1303400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:1302200-1304000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:1302200-1305200	Enhancers	Fetal Heart	heart
26	chr4:1302400-1303000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:1302400-1303000	Enhancers	Fetal Muscle Leg	muscle
28	chr4:1302400-1303200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:1302400-1303200	Enhancers	Gastric	stomach
30	chr4:1302400-1303200	Weak transcription	Lung	lung
31	chr4:1302400-1303200	Enhancers	Pancreas	Pancrea
32	chr4:1302400-1303200	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr4:1302400-1303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:1302400-1303600	Enhancers	Fetal Brain Male	brain
35	chr4:1302400-1304400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr4:1302400-1304400	Enhancers	Stomach Mucosa	stomach
37	chr4:1302400-1304600	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr4:1302400-1305200	Weak transcription	Dnd41	blood
39	chr4:1302600-1303000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:1302600-1303000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:1302600-1303000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr4:1302600-1303000	Genic enhancers	Fetal Intestine Small	intestine
43	chr4:1302600-1303000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr4:1302600-1303000	Flanking Active TSS	HSMMtube	muscle
45	chr4:1302600-1303200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:1302600-1303200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr4:1302600-1303200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:1302600-1303200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr4:1302600-1303200	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr4:1302600-1303200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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