Variant report

Variant	rs2305884
Chromosome Location	chr16:30970741-30970742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:30967331..30971455-chr16:31189672..31193521,14	K562	blood:
2	chr16:30969849..30973969-chr16:31007050..31010528,3	MCF-7	breast:
3	chr16:30933332..30935559-chr16:30969303..30971318,2	K562	blood:
4	chr16:30932533..30935734-chr16:30966751..30970803,5	K562	blood:
5	chr16:30968063..30971621-chr16:31128915..31132343,4	K562	blood:
6	chr16:30967183..30971961-chr16:31469060..31471569,4	MCF-7	breast:
7	chr16:30936648..30939511-chr16:30968022..30970933,3	MCF-7	breast:
8	chr16:30967386..30971624-chr16:31189375..31193961,9	K562	blood:
9	chr16:30967600..30970776-chr16:31084507..31087266,4	MCF-7	breast:
10	chr16:30968251..30971465-chr16:31104162..31108928,5	MCF-7	breast:
11	chr16:30968345..30970795-chr16:30996661..31000962,4	MCF-7	breast:
12	chr16:30967393..30971949-chr16:31083830..31088417,7	K562	blood:
13	chr16:30661294..30664208-chr16:30968481..30971665,3	MCF-7	breast:
14	chr16:30967074..30970924-chr16:31469051..31472537,7	K562	blood:
15	chr16:30968024..30972662-chr16:31101043..31106214,4	MCF-7	breast:
16	chr16:30967179..30972282-chr16:31082507..31088894,13	MCF-7	breast:
17	chr16:30931053..30936697-chr16:30966530..30971104,6	MCF-7	breast:
18	chr16:30969131..30970956-chr16:31201908..31204585,2	MCF-7	breast:
19	chr16:30785225..30786834-chr16:30968758..30970807,2	K562	blood:
20	chr16:30967074..30970924-chr16:31469051..31472279,6	K562	blood:
21	chr16:30933863..30936209-chr16:30967329..30971439,5	MCF-7	breast:
22	chr16:30969242..30970758-chr16:31007667..31009607,2	K562	blood:
23	chr16:30968978..30971725-chr16:31006942..31010708,4	K562	blood:
24	chr16:30969010..30970888-chr16:31043555..31045829,3	K562	blood:
25	chr16:30967393..30971385-chr16:31083259..31086232,6	K562	blood:
26	chr16:30708936..30712121-chr16:30967511..30970972,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000089280	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000099365	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1046276	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1060506	0.89[JPT][hapmap]
rs10782001	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10782002	0.93[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10871454	0.89[JPT][hapmap]
rs11076	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150599	0.92[CHD][hapmap]
rs11150600	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11150601	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150604	0.89[JPT][hapmap]
rs11640534	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11640961	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11649653	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11862744	0.91[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap]
rs11864839	0.82[JPT][hapmap]
rs11865038	0.83[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap]
rs11865499	0.89[JPT][hapmap]
rs12445568	1.00[CEU][hapmap];0.97[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs12445650	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs12447930	0.83[EUR][1000 genomes]
rs12597511	0.89[JPT][hapmap]
rs12599631	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12716978	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12917722	0.95[ASN][1000 genomes]
rs12924903	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12926295	0.92[CHD][hapmap]
rs12928852	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12930545	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12930657	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12931046	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12934900	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13336347	0.95[ASN][1000 genomes]
rs13708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14235	0.89[JPT][hapmap]
rs1458201	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap]
rs1458202	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1549293	0.89[JPT][hapmap]
rs1870293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978487	0.89[JPT][hapmap]
rs2032915	0.89[JPT][hapmap]
rs2054213	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2199036	0.84[EUR][1000 genomes]
rs2303222	0.89[JPT][hapmap]
rs2303223	0.89[JPT][hapmap]
rs2305880	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2359612	0.89[JPT][hapmap]
rs28360557	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2855475	0.89[JPT][hapmap]
rs34873012	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35468353	0.91[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap]
rs35675346	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs35733741	0.95[ASN][1000 genomes]
rs3751855	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs3813020	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4346218	0.81[AMR][1000 genomes]
rs4468641	0.83[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap]
rs4502227	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4527034	0.89[JPT][hapmap]
rs4889514	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889525	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889571	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889599	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889603	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4889604	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889606	1.00[JPT][hapmap]
rs4889609	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap]
rs4889651	0.83[CHD][hapmap]
rs4889653	0.83[CHD][hapmap]
rs4889685	0.89[EUR][1000 genomes]
rs61239537	0.81[EUR][1000 genomes]
rs62055866	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6565217	0.83[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap]
rs6950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184567	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs7196726	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs7197717	0.83[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap]
rs7199949	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs7200879	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs7203999	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs7204459	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7206511	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72799341	0.84[ASN][1000 genomes]
rs7294	0.83[CEU][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs729482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap]
rs732172	0.91[CEU][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs749670	0.88[JPT][hapmap]
rs749671	0.89[JPT][hapmap]
rs749767	0.89[JPT][hapmap]
rs750952	0.83[CEU][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs8046707	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs8050588	0.80[ASW][hapmap];0.83[CEU][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8050894	0.89[JPT][hapmap]
rs8052245	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8056842	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs8060857	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs881929	0.89[JPT][hapmap]
rs889548	0.89[JPT][hapmap]
rs889555	0.89[JPT][hapmap]
rs897986	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9319588	0.83[CEU][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9923231	0.89[JPT][hapmap]
rs9926533	1.00[JPT][hapmap]
rs9933843	1.00[CHD][hapmap]
rs9934438	0.89[JPT][hapmap]
rs9936329	0.89[JPT][hapmap]
rs9938050	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9938550	0.93[ASW][hapmap];0.95[CEU][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939417	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	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
5	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
6	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
7	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	112 gene(s)	inside rSNPs	diseases
8	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
9	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription 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	95 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv905738	chr16:30906274-30973926	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
17	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
18	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription 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	109 gene(s)	inside rSNPs	diseases
19	esv3508669	chr16:30968201-30971099	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	n/a
20	esv3508670	chr16:30968201-30971099	Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	n/a
21	esv3359616	chr16:30968476-30971024	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	n/a

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2305884	HSD3B7	cis	Skin Sun Exposed Lower leg	GTEx
rs2305884	RABEP2	cis	cerebellum	SCAN
rs2305884	HSD3B7	cis	Muscle Skeletal	GTEx
rs2305884	FBRS	cis	cerebellum	SCAN
rs2305884	MYST1	cis	parietal	SCAN
rs2305884	PHKG2	cis	parietal	SCAN
rs2305884	C15orf57	trans	cerebellum	SCAN
rs2305884	MYST1	cis	cerebellum	SCAN
rs2305884	HSD3B7	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30969200-30984800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:30969800-30970800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr16:30969800-30970800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:30969800-30970800	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr16:30970000-30970800	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
6	chr16:30970000-30970800	Transcr. at gene 5' and 3'	Hela-S3	cervix
7	chr16:30970000-30970800	Transcr. at gene 5' and 3'	NHEK	skin
8	chr16:30970000-30971000	Transcr. at gene 5' and 3'	Fetal Lung	lung
9	chr16:30970000-30971000	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr16:30970000-30971400	Enhancers	Fetal Heart	heart
11	chr16:30970200-30970800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:30970200-30970800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:30970200-30970800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
14	chr16:30970200-30970800	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr16:30970200-30970800	Enhancers	Pancreas	Pancrea
16	chr16:30970200-30970800	Transcr. at gene 5' and 3'	HMEC	breast
17	chr16:30970200-30970800	Transcr. at gene 5' and 3'	HSMM	muscle
18	chr16:30970200-30971000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr16:30970200-30971000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:30970200-30971000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:30970200-30971000	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr16:30970200-30971000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr16:30970200-30971000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:30970200-30971000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:30970200-30971000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:30970200-30971000	Genic enhancers	Right Ventricle	heart
27	chr16:30970200-30980600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:30970400-30970800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:30970400-30970800	Genic enhancers	Primary B cells from cord blood	blood
30	chr16:30970400-30970800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr16:30970400-30970800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:30970400-30970800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:30970400-30970800	Genic enhancers	Brain Angular Gyrus	brain
34	chr16:30970400-30970800	Genic enhancers	Brain Hippocampus Middle	brain
35	chr16:30970400-30970800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
36	chr16:30970400-30970800	Genic enhancers	Fetal Thymus	thymus
37	chr16:30970400-30970800	Enhancers	Gastric	stomach
38	chr16:30970400-30970800	Weak transcription	Small Intestine	intestine
39	chr16:30970400-30970800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
40	chr16:30970400-30970800	Genic enhancers	K562	blood
41	chr16:30970400-30970800	Genic enhancers	Monocytes-CD14+_RO01746	blood
42	chr16:30970400-30971000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr16:30970400-30971000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:30970400-30971000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr16:30970400-30971000	Genic enhancers	Lung	lung
46	chr16:30970400-30971000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr16:30970400-30971000	Genic enhancers	NHDF-Ad	bronchial
48	chr16:30970400-30971400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr16:30970400-30971400	Genic enhancers	Brain Inferior Temporal Lobe	brain
50	chr16:30970400-30971600	Genic enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links