Variant report

Variant	rs1549293
Chromosome Location	chr16:31141993-31141994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr16:31141580-31142879	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:31141975-31142033	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:31141968-31142616	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr16:31141920-31142783	HCT-116	colon:	n/a	n/a
5	SPI1	chr16:31141510-31142035	HL-60	blood:	n/a	chr16:31141751-31141764 chr16:31141752-31141765 chr16:31141753-31141762
6	POLR2A	chr16:31141881-31142498	MCF-7	breast:	n/a	n/a
7	POLR2A	chr16:31141904-31142701	H1-hESC	embryonic stem cell:	n/a	n/a
8	NR2F2	chr16:31141713-31142763	MCF-7	breast:	n/a	n/a
9	USF1	chr16:31141716-31142667	HCT-116	colon:	n/a	n/a
10	POLR2A	chr16:31141954-31142883	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:31139753-31142012	HL-60	blood:	n/a	n/a
12	USF1	chr16:31141903-31142663	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr16:31141847-31142725	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr16:31141896-31142649	MCF-7	breast:	n/a	n/a
15	TCF12	chr16:31141934-31142862	ECC-1	luminal epithelium:	n/a	chr16:31142026-31142036
16	ZBTB7A	chr16:31141892-31142868	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr16:31141957-31142649	HCT-116	colon:	n/a	n/a
18	JUND	chr16:31141940-31142264	HepG2	liver:	n/a	n/a
19	HDAC2	chr16:31141899-31142671	MCF-7	breast:	n/a	n/a
20	USF1	chr16:31141894-31142700	ECC-1	luminal epithelium:	n/a	n/a
21	JUND	chr16:31141910-31142227	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF1	chr16:31141941-31142484	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZBTB7A	chr16:31141884-31142954	ECC-1	luminal epithelium:	n/a	n/a
24	ELF1	chr16:31141672-31142580	MCF-7	breast:	n/a	n/a
25	GATA3	chr16:31141938-31142720	MCF-7	breast:	n/a	n/a
26	EP300	chr16:31141813-31142793	ECC-1	luminal epithelium:	n/a	chr16:31141941-31141957
27	USF1	chr16:31141905-31142637	HCT-116	colon:	n/a	n/a
28	POLR2A	chr16:31141805-31142684	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr16:31139821-31142122	HL-60	blood:	n/a	n/a
30	MAX	chr16:31141904-31142721	MCF-7	breast:	n/a	n/a
31	JUN	chr16:31141966-31142200	HepG2	liver:	n/a	chr16:31142089-31142102
32	MAX	chr16:31141935-31142699	ECC-1	luminal epithelium:	n/a	n/a
33	USF1	chr16:31141959-31142492	H1-hESC	embryonic stem cell:	n/a	n/a
34	NR2F2	chr16:31141988-31142754	MCF-7	breast:	n/a	n/a
35	POLR2A	chr16:31141679-31143002	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr16:31141925-31142765	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr16:31141978-31142654	K562	blood:	n/a	n/a
38	TCF12	chr16:31141928-31142900	ECC-1	luminal epithelium:	n/a	chr16:31142026-31142036
39	POLR2A	chr16:31141730-31143206	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr16:31141906-31142593	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31140279..31143875-chr16:31189793..31193230,5	MCF-7	breast:
2	chr16:31141207..31143921-chr16:31201382..31203908,3	MCF-7	breast:
3	chr16:31141772..31145245-chr16:31195885..31201101,4	MCF-7	breast:
4	chr16:31085582..31087599-chr16:31140621..31143082,2	MCF-7	breast:
5	chr16:30996340..30997914-chr16:31141373..31143883,2	K562	blood:
6	chr16:31140382..31143325-chr16:31190204..31192069,2	K562	blood:
7	chr16:31138688..31143325-chr16:31188339..31193663,6	K562	blood:
8	chr16:31139340..31148115-chr16:31189133..31193213,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261385	TF binding region
ENSG00000089280	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000268863	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1060506	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10782001	0.89[JPT][hapmap]
rs10782002	0.89[JPT][hapmap]
rs10871454	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.80[ASN][1000 genomes]
rs11076	0.88[JPT][hapmap]
rs1108431	0.84[ASN][1000 genomes]
rs11150601	0.89[JPT][hapmap]
rs11150604	1.00[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs11640534	0.89[JPT][hapmap]
rs11640767	0.82[ASN][1000 genomes]
rs11640957	0.82[ASN][1000 genomes]
rs11640961	0.87[CEU][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs11642192	0.93[ASN][1000 genomes]
rs11647284	0.95[ASN][1000 genomes]
rs11647442	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11862744	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11864806	0.95[ASN][1000 genomes]
rs11864839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11865038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11865499	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12102776	0.82[CHB][hapmap];0.92[CHD][hapmap]
rs12445650	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12448321	0.84[ASN][1000 genomes]
rs12597511	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12716981	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12716982	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928852	0.89[JPT][hapmap]
rs12931046	0.89[JPT][hapmap]
rs12934418	0.84[ASN][1000 genomes]
rs13708	0.89[JPT][hapmap]
rs14235	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1458202	0.89[JPT][hapmap]
rs17839567	0.84[ASN][1000 genomes]
rs17839568	0.95[ASN][1000 genomes]
rs1870293	0.89[JPT][hapmap]
rs1978485	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054213	0.89[JPT][hapmap]
rs2288004	0.84[ASN][1000 genomes]
rs2303222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[ASN][1000 genomes]
rs2303223	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2305880	0.89[JPT][hapmap]
rs2305884	0.89[JPT][hapmap]
rs2359612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2855475	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28725459	0.96[ASN][1000 genomes]
rs28814987	0.95[ASN][1000 genomes]
rs2884738	1.00[ASN][1000 genomes]
rs34649473	0.81[ASN][1000 genomes]
rs35351013	0.89[ASN][1000 genomes]
rs35468353	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs35713203	0.95[ASN][1000 genomes]
rs3751855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4468641	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4527034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889525	0.89[JPT][hapmap]
rs4889530	0.82[ASN][1000 genomes]
rs4889599	0.89[JPT][hapmap]
rs4889603	0.84[CEU][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap]
rs4889604	0.89[JPT][hapmap]
rs4889606	0.96[CEU][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap]
rs4889609	1.00[JPT][hapmap]
rs4889619	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889620	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889623	0.82[CHB][hapmap]
rs55766044	1.00[ASN][1000 genomes]
rs55979739	0.84[ASN][1000 genomes]
rs56284083	0.84[ASN][1000 genomes]
rs56314408	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56813533	0.89[ASN][1000 genomes]
rs57434408	0.86[ASN][1000 genomes]
rs58726213	0.82[ASN][1000 genomes]
rs59061704	0.82[ASN][1000 genomes]
rs59735493	1.00[ASN][1000 genomes]
rs60996860	0.96[ASN][1000 genomes]
rs61162043	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61320757	1.00[ASN][1000 genomes]
rs6565217	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6950	0.89[JPT][hapmap]
rs7187995	0.89[ASN][1000 genomes]
rs7190802	0.82[CHB][hapmap]
rs7196161	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7196726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7197717	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7199949	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7200879	1.00[JPT][hapmap]
rs7203999	0.82[CHD][hapmap];0.89[JPT][hapmap]
rs7204459	0.89[JPT][hapmap]
rs7206511	0.89[JPT][hapmap]
rs7294	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs729482	1.00[JPT][hapmap]
rs732172	1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs732173	0.84[ASN][1000 genomes]
rs73530203	0.93[ASN][1000 genomes]
rs749670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs749671	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs749767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7500176	0.84[ASN][1000 genomes]
rs750952	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8047803	0.95[ASN][1000 genomes]
rs8050894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8056842	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8060857	0.89[JPT][hapmap]
rs8061047	0.89[ASN][1000 genomes]
rs8062719	0.89[JPT][hapmap]
rs881929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.95[ASN][1000 genomes]
rs889548	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889555	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs897986	0.89[JPT][hapmap]
rs9923231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9925964	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926533	0.96[CEU][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap]
rs9929899	0.82[ASN][1000 genomes]
rs9934438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9936329	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939417	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.84[ASN][1000 genomes]
rs9939558	0.84[ASN][1000 genomes]
rs9972727	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
13	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs1549293	MYST1	cis	cerebellum	SCAN
rs1549293	STX1B	cis	cerebellum	SCAN
rs1549293	ZNF668	cis	cerebellum	SCAN
rs1549293	KAT8	cis	Artery Tibial	GTEx
rs1549293	YPEL3	cis	cerebellum	SCAN
rs1549293	MYST1	cis	parietal	SCAN
rs1549293	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs1549293	KAT8	cis	Skin Sun Exposed Lower leg	GTEx
rs1549293	KAT8	cis	Nerve Tibial	GTEx
rs1549293	HSD3B7	cis	Whole Blood	GTEx
rs1549293	NCRNA00095	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31130400-31145000	Strong transcription	Fetal Brain Female	brain
2	chr16:31130400-31153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:31130600-31144400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr16:31130600-31144800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:31130600-31144800	Strong transcription	Thymus	Thymus
6	chr16:31130600-31145000	Weak transcription	Fetal Heart	heart
7	chr16:31130600-31145200	Strong transcription	Fetal Stomach	stomach
8	chr16:31130800-31143800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr16:31130800-31144200	Strong transcription	Liver	Liver
10	chr16:31130800-31145000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:31132400-31145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:31132400-31146000	Weak transcription	Hela-S3	cervix
13	chr16:31133800-31146200	Weak transcription	Fetal Brain Male	brain
14	chr16:31134000-31144200	Weak transcription	HUVEC	blood vessel
15	chr16:31134000-31145600	Weak transcription	Fetal Kidney	kidney
16	chr16:31134200-31142000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:31134600-31144400	Strong transcription	Brain Germinal Matrix	brain
18	chr16:31135400-31144800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:31135800-31143200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:31135800-31153000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr16:31136400-31142000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:31136600-31143800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:31137200-31144200	Strong transcription	Dnd41	blood
24	chr16:31137200-31144400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr16:31137400-31143800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr16:31137400-31144600	Strong transcription	Spleen	Spleen
27	chr16:31137800-31142200	Genic enhancers	Fetal Lung	lung
28	chr16:31138000-31142600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr16:31138000-31144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:31138200-31143400	Strong transcription	Aorta	Aorta
31	chr16:31138200-31143800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:31138200-31143800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:31138200-31144200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr16:31138200-31144200	Strong transcription	Left Ventricle	heart
35	chr16:31138200-31144400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr16:31138200-31144600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:31138200-31145200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:31138400-31143800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:31138400-31144000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:31138400-31144200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:31138400-31144800	Strong transcription	Colon Smooth Muscle	Colon
42	chr16:31138600-31142200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:31138600-31142600	Genic enhancers	Fetal Intestine Small	intestine
44	chr16:31138600-31144400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:31138600-31144600	Strong transcription	Rectal Smooth Muscle	rectum
46	chr16:31138800-31142600	Genic enhancers	Fetal Intestine Large	intestine
47	chr16:31139000-31142000	Genic enhancers	Brain Hippocampus Middle	brain
48	chr16:31139000-31142200	Genic enhancers	Fetal Thymus	thymus
49	chr16:31139000-31142800	Strong transcription	HepG2	liver
50	chr16:31139000-31145000	Genic enhancers	Placenta	Placenta

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