Variant report

Variant	rs12930545
Chromosome Location	chr16:30938811-30938812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr16:30938673-30939971	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:30938476-30939112	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30936648..30939511-chr16:30968022..30970933,3	MCF-7	breast:
2	chr16:30886810..30888437-chr16:30936878..30938954,2	MCF-7	breast:
3	chr16:30670480..30673279-chr16:30937544..30939603,2	MCF-7	breast:
4	chr16:30661732..30664446-chr16:30938564..30940681,2	K562	blood:
5	chr16:30938629..30940379-chr16:30958640..30960295,2	K562	blood:
6	chr16:30902664..30909579-chr16:30931454..30940613,20	MCF-7	breast:
7	chr16:30937529..30940123-chr16:30958565..30961650,4	MCF-7	breast:
8	chr16:30885246..30888347-chr16:30937148..30940794,5	MCF-7	breast:
9	chr16:30781804..30783683-chr16:30937508..30939491,2	MCF-7	breast:
10	chr16:30905565..30908473-chr16:30937870..30939495,2	MCF-7	breast:
11	chr16:30938156..30939659-chr16:31190413..31192070,2	K562	blood:
12	chr16:30917528..30919524-chr16:30937722..30939647,2	MCF-7	breast:
13	chr16:30455436..30457236-chr16:30937622..30939684,2	MCF-7	breast:
14	chr16:30796619..30799090-chr16:30937955..30940704,3	MCF-7	breast:
15	chr16:30938159..30940672-chr16:31190570..31193541,2	K562	blood:
16	chr16:30937215..30939704-chr16:30958762..30961942,3	MCF-7	breast:

No data

Variant related genes	Relation type
FBXL19-AS1	TF binding region
ENSG00000175938	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000261487	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1046276	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10782001	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782002	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11076	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11150599	0.87[CEU][hapmap];0.84[CHD][hapmap]
rs11150600	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150601	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11640534	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640961	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs11649653	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs11862744	0.88[GIH][hapmap];0.85[TSI][hapmap]
rs11865038	0.88[GIH][hapmap]
rs12445568	1.00[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs12599631	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12716978	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12917722	1.00[ASN][1000 genomes]
rs12924903	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12926295	0.87[CEU][hapmap];0.84[CHD][hapmap]
rs12928852	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12930657	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12931046	0.93[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12934900	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13336347	1.00[ASN][1000 genomes]
rs13708	1.00[CHB][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1458201	1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap]
rs1458202	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870293	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054213	0.93[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2199036	0.81[EUR][1000 genomes]
rs2305880	0.93[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2305884	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]
rs28360557	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34873012	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35468353	0.88[GIH][hapmap];0.85[TSI][hapmap]
rs35675346	1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap];0.90[ASN][1000 genomes]
rs35733741	1.00[ASN][1000 genomes]
rs3813020	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468641	0.88[GIH][hapmap]
rs4502227	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4889514	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889525	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889571	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889599	0.92[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889603	0.92[CHD][hapmap];0.95[ASN][1000 genomes]
rs4889604	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889609	1.00[CHB][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap]
rs4889685	0.94[EUR][1000 genomes]
rs62055866	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6565217	0.88[GIH][hapmap]
rs6950	1.00[CHB][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7184567	1.00[CHB][hapmap]
rs7185007	0.84[ASN][1000 genomes]
rs7197717	0.88[GIH][hapmap]
rs7200879	1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.90[ASN][1000 genomes]
rs7203999	1.00[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs7204459	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7206511	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799341	0.90[ASN][1000 genomes]
rs7294	0.85[GIH][hapmap]
rs729482	1.00[CHB][hapmap];0.97[GIH][hapmap];0.81[TSI][hapmap]
rs732172	0.85[GIH][hapmap]
rs750952	0.85[GIH][hapmap]
rs8046707	1.00[CHB][hapmap];0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs8050588	0.80[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052245	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8060857	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8062719	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs897986	0.93[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9319588	0.95[CEU][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9933843	0.87[CEU][hapmap];0.92[CHD][hapmap]
rs9938050	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9938550	0.93[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
9	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12930545	HSD3B7	cis	Muscle Skeletal	GTEx
rs12930545	HSD3B7	cis	Skin Sun Exposed Lower leg	GTEx
rs12930545	HSD3B7	cis	Esophagus Mucosa	GTEx
rs12930545	FBRS	cis	cerebellum	SCAN
rs12930545	MYST1	cis	parietal	SCAN
rs12930545	ZNF785	cis	lymphoblastoid	seeQTL
rs12930545	MYST1	cis	cerebellum	SCAN
rs12930545	RABEP2	cis	cerebellum	SCAN
rs12930545	RP11-196G11.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30935200-30941600	Weak transcription	Brain Substantia Nigra	brain
2	chr16:30935600-30943400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr16:30935800-30939800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:30935800-30941200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:30936000-30939600	Enhancers	Fetal Brain Male	brain
6	chr16:30936000-30940000	Enhancers	Fetal Heart	heart
7	chr16:30936000-30953400	Weak transcription	Right Atrium	heart
8	chr16:30936200-30941800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:30936400-30940200	Weak transcription	HSMMtube	muscle
10	chr16:30936400-30940600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr16:30936400-30941200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:30936400-30941400	Weak transcription	Left Ventricle	heart
13	chr16:30936400-30941600	Weak transcription	Aorta	Aorta
14	chr16:30936400-30941600	Weak transcription	Psoas Muscle	Psoas
15	chr16:30936400-30941800	Weak transcription	Primary B cells from cord blood	blood
16	chr16:30936400-30942000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr16:30936400-30942600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr16:30936400-30955200	Weak transcription	Fetal Kidney	kidney
19	chr16:30936400-30955800	Weak transcription	Small Intestine	intestine
20	chr16:30936600-30939600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:30936600-30939600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr16:30936600-30941400	Weak transcription	Colonic Mucosa	Colon
23	chr16:30936600-30941400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:30936600-30941800	Strong transcription	Fetal Intestine Small	intestine
25	chr16:30936600-30941800	Weak transcription	HUVEC	blood vessel
26	chr16:30936600-30942200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:30936600-30942200	Weak transcription	Brain Angular Gyrus	brain
28	chr16:30936600-30946400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:30936600-30952800	Weak transcription	Hela-S3	cervix
30	chr16:30936600-30953000	Weak transcription	Stomach Mucosa	stomach
31	chr16:30936800-30939200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:30936800-30939200	Weak transcription	HepG2	liver
33	chr16:30936800-30939400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:30936800-30940000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:30936800-30940400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:30936800-30940400	Weak transcription	A549	lung
37	chr16:30936800-30941400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr16:30936800-30941600	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:30936800-30942000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr16:30936800-30942000	Weak transcription	HSMM	muscle
41	chr16:30936800-30942200	Weak transcription	NHDF-Ad	bronchial
42	chr16:30936800-30944000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr16:30936800-30946200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr16:30937000-30939000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:30937000-30939200	Genic enhancers	Dnd41	blood
46	chr16:30937000-30940400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:30937000-30940400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr16:30937000-30941200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:30937000-30941400	Weak transcription	Primary T cells from cord blood	blood
50	chr16:30937000-30941800	Weak transcription	NH-A	brain

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