Variant report

Variant	rs12445650
Chromosome Location	chr16:31044897-31044898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:350)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:31044148-31045088	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:31044291-31044915	A549	lung:	n/a	n/a
3	ELF1	chr16:31043905-31046036	GM12878	blood:	n/a	chr16:31045257-31045270 chr16:31045260-31045269
4	MAX	chr16:31044284-31045001	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF1	chr16:31044212-31044922	A549	lung:	n/a	chr16:31044613-31044624
6	GABPA	chr16:31044384-31044970	H1-hESC	embryonic stem cell:	n/a	chr16:31044845-31044856
7	POLR2A	chr16:31044463-31045103	PFSK-1	brain:	n/a	n/a
8	EGR1	chr16:31043967-31044944	MCF-7	breast:	n/a	chr16:31044357-31044371
9	JUN	chr16:31044021-31044926	K562	blood:	n/a	n/a
10	MYC	chr16:31044498-31044924	MCF10A-Er-Src	breast:	n/a	n/a
11	NFATC1	chr16:31044442-31044931	GM12878	blood:	n/a	n/a
12	RUNX3	chr16:31043976-31044950	GM12878	blood:	n/a	n/a
13	EP300	chr16:31044100-31044919	GM12878	blood:	n/a	n/a
14	HCFC1	chr16:31043716-31046587	Hela-S3	cervix:	n/a	n/a
15	ATF3	chr16:31044343-31044929	A549	lung:	n/a	n/a
16	HDAC2	chr16:31044067-31045048	HepG2	liver:	n/a	n/a
17	BRCA1	chr16:31044474-31044916	Hela-S3	cervix:	n/a	n/a
18	ELF1	chr16:31044477-31045029	SK-N-SH	brain:	n/a	n/a
19	BRCA1	chr16:31044516-31044905	H1-hESC	embryonic stem cell:	n/a	n/a
20	KAP1	chr16:31044227-31044913	HEK293	kidney:	n/a	n/a
21	RCOR1	chr16:31044118-31045177	GM12878	blood:	n/a	n/a
22	SIX5	chr16:31044403-31045021	A549	lung:	n/a	n/a
23	E2F6	chr16:31044133-31044988	A549	lung:	n/a	n/a
24	POLR2A	chr16:31043994-31045047	GM18526	blood:	n/a	n/a
25	NFIC	chr16:31044158-31044977	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:31043886-31045826	K562	blood:	n/a	n/a
27	POLR2A	chr16:31043952-31045771	GM18505	blood:	n/a	n/a
28	MAX	chr16:31043944-31045950	K562	blood:	n/a	n/a
29	POLR2A	chr16:31043931-31045894	PBDE	blood:	n/a	n/a
30	E2F6	chr16:31044088-31044940	H1-hESC	embryonic stem cell:	n/a	n/a
31	ELK1	chr16:31044219-31044962	K562	blood:	n/a	n/a
32	MAX	chr16:31044081-31044992	ECC-1	luminal epithelium:	n/a	n/a
33	YY1	chr16:31044278-31045221	A549	lung:	n/a	n/a
34	MEF2A	chr16:31044321-31044953	GM12878	blood:	n/a	n/a
35	MXI1	chr16:31043913-31044926	GM12878	blood:	n/a	n/a
36	CREB1	chr16:31043908-31045079	HepG2	liver:	n/a	n/a
37	ETS1	chr16:31043958-31044942	GM12878	blood:	n/a	n/a
38	NR2F2	chr16:31043840-31045000	K562	blood:	n/a	n/a
39	POLR2A	chr16:31044313-31044923	GM12878	blood:	n/a	n/a
40	BCLAF1	chr16:31044242-31044904	GM12878	blood:	n/a	n/a
41	POLR2A	chr16:31043946-31045810	GM19193	blood:	n/a	n/a
42	ELF1	chr16:31044477-31044998	A549	lung:	n/a	n/a
43	USF1	chr16:31044333-31044943	A549	lung:	n/a	chr16:31044613-31044624
44	POLR2A	chr16:31043990-31045765	GM18951	blood:	n/a	n/a
45	BCL3	chr16:31044375-31045071	A549	lung:	n/a	n/a
46	SIN3A	chr16:31043929-31045937	GM12878	blood:	n/a	n/a
47	MBD4	chr16:31044151-31044910	HepG2	liver:	n/a	n/a
48	NFIC	chr16:31044424-31044979	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr16:31044367-31044967	A549	lung:	n/a	n/a
50	MAX	chr16:31044332-31045863	Hela-S3	cervix:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31005622..31010168-chr16:31042261..31047356,7	K562	blood:
2	chr16:31043007..31053782-chr16:31072765..31087431,40	MCF-7	breast:
3	chr16:31043517..31045569-chr16:31127733..31129312,2	K562	blood:
4	chr16:31041879..31046302-chr16:31191388..31194694,4	K562	blood:
5	chr16:31043215..31044919-chr16:31118800..31122188,4	K562	blood:
6	chr16:31005622..31009984-chr16:31042414..31045630,5	K562	blood:
7	chr16:31043530..31046862-chr16:31190161..31192908,5	K562	blood:
8	chr16:31007115..31010903-chr16:31041705..31047571,13	MCF-7	breast:
9	chr16:31043682..31045721-chr16:31190311..31192147,2	MCF-7	breast:
10	chr16:31044600..31045234-chr22:45705640..45706204,2	Hela-S3	cervix:
11	chr16:31043013..31046253-chr16:31082389..31087326,7	K562	blood:
12	chr16:31044055..31045706-chr16:31104803..31106842,2	K562	blood:
13	chr16:30994885..31002476-chr16:31041204..31046530,9	MCF-7	breast:
14	chr16:31011772..31015018-chr16:31043547..31045573,3	MCF-7	breast:
15	chr16:30969010..30970888-chr16:31043555..31045829,3	K562	blood:
16	chr16:30994248..30997173-chr16:31043016..31046845,4	K562	blood:
17	chr16:31044085..31045715-chr16:31191109..31192645,2	MCF-7	breast:
18	chr16:31043716..31047464-chr16:31083118..31086519,10	MCF-7	breast:
19	chr16:31043970..31045853-chr16:31053165..31057721,4	K562	blood:
20	chr16:31004363..31015645-chr16:31042809..31047717,18	MCF-7	breast:
21	chr16:31044379..31046301-chr16:31075916..31077490,2	MCF-7	breast:
22	chr16:31044131..31046037-chr16:31153461..31155105,2	K562	blood:
23	chr16:31043013..31047219-chr16:31082783..31087326,13	K562	blood:
24	chr16:30996405..31000424-chr16:31042886..31047088,8	MCF-7	breast:
25	chr16:31043165..31047105-chr16:31102487..31107326,5	MCF-7	breast:
26	chr16:31043806..31046145-chr16:31195048..31197092,2	K562	blood:
27	chr16:31043723..31046982-chr16:31104763..31108455,4	MCF-7	breast:
28	chr16:31042749..31045217-chr16:31199190..31201398,2	K562	blood:
29	chr16:31043673..31046674-chr16:31119786..31122161,3	MCF-7	breast:
30	chr16:31018219..31021809-chr16:31044070..31046311,3	K562	blood:
31	chr16:31043294..31046227-chr16:31119706..31121913,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC135050.1-4	chr16:31044878-31045156	NONHSAT141833

No data

Variant related genes	Relation type
STX4	TF binding region
ENSG00000100376	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000261124	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000260911	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000232748	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000252809	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs1046276	1.00[JPT][hapmap]
rs1060506	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10782001	0.88[JPT][hapmap]
rs10782002	0.88[JPT][hapmap]
rs10871454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11076	0.86[JPT][hapmap]
rs1108431	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150599	0.86[JPT][hapmap]
rs11150600	0.88[JPT][hapmap]
rs11150601	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs11150604	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11640534	0.88[JPT][hapmap]
rs11640767	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11640957	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11640961	0.88[JPT][hapmap]
rs11642192	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11647284	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11647442	0.84[ASN][1000 genomes]
rs11649653	1.00[JPT][hapmap]
rs11862744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864806	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11864839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11865038	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11865499	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12445568	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs12447930	0.82[EUR][1000 genomes]
rs12448321	1.00[ASN][1000 genomes]
rs12597511	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12716981	0.84[ASN][1000 genomes]
rs12716982	0.84[ASN][1000 genomes]
rs12924903	1.00[JPT][hapmap]
rs12926295	0.86[JPT][hapmap]
rs12928852	0.88[JPT][hapmap]
rs12931046	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs12934418	1.00[ASN][1000 genomes]
rs13708	0.92[CEU][hapmap];0.88[JPT][hapmap]
rs14235	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1458201	0.88[JPT][hapmap]
rs1458202	0.88[JPT][hapmap]
rs1549293	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17839567	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17839568	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1870293	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs1978485	0.84[ASN][1000 genomes]
rs1978487	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2032915	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2054213	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs2288004	1.00[ASN][1000 genomes]
rs2303222	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2303223	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2305880	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs2305884	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs2359612	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2855475	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs28725459	0.81[ASN][1000 genomes]
rs28814987	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2884738	0.84[ASN][1000 genomes]
rs34649473	0.83[ASN][1000 genomes]
rs34898535	0.87[ASN][1000 genomes]
rs35351013	0.82[ASN][1000 genomes]
rs35468353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35675346	1.00[JPT][hapmap]
rs35713203	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35961830	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3751855	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4468641	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4527034	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4889525	0.83[CEU][hapmap];0.88[JPT][hapmap]
rs4889526	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4889530	0.89[ASN][1000 genomes]
rs4889599	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs4889603	0.88[JPT][hapmap]
rs4889604	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs4889606	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4889609	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4889620	0.84[ASN][1000 genomes]
rs4889651	0.86[JPT][hapmap]
rs4889653	0.86[JPT][hapmap]
rs55766044	0.84[ASN][1000 genomes]
rs55979739	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284083	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56314408	0.84[ASN][1000 genomes]
rs56813533	0.82[ASN][1000 genomes]
rs57434408	0.93[ASN][1000 genomes]
rs57576577	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58726213	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59061704	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59735493	0.84[ASN][1000 genomes]
rs60996860	0.81[ASN][1000 genomes]
rs61162043	0.89[ASN][1000 genomes]
rs61320757	0.84[ASN][1000 genomes]
rs6565217	0.92[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6950	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs7184567	1.00[CEU][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes]
rs7187995	0.82[ASN][1000 genomes]
rs7196161	0.89[ASN][1000 genomes]
rs7196726	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7197717	0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7199949	0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7200879	1.00[JPT][hapmap]
rs7203999	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7204459	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs7206511	0.88[JPT][hapmap]
rs7294	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs729482	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs732172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732173	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530203	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs749670	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs749671	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs749767	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7500176	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750952	0.92[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8046707	0.88[JPT][hapmap]
rs8047803	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8050588	0.88[JPT][hapmap]
rs8050894	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8056842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8060857	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs8061047	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8062719	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs8063565	0.86[JPT][hapmap]
rs881929	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs889548	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs889555	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs897986	0.91[CEU][hapmap];0.88[JPT][hapmap]
rs9673641	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9923231	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9925964	0.84[ASN][1000 genomes]
rs9926533	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs9929899	0.98[ASN][1000 genomes]
rs9933843	0.86[JPT][hapmap]
rs9934438	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9936329	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9938550	0.87[CEU][hapmap]
rs9939417	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9939558	1.00[ASN][1000 genomes]
rs9972727	0.84[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	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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12445650	RP11-196G11.2	cis	lung	GTEx
rs12445650	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs12445650	KAT8	cis	Skin Sun Exposed Lower leg	GTEx
rs12445650	STX1B	cis	Thyroid	GTEx
rs12445650	HSD3B7	cis	Muscle Skeletal	GTEx
rs12445650	KAT8	cis	Artery Tibial	GTEx
rs12445650	RP11-196G11.2	cis	Esophagus Muscularis	GTEx
rs12445650	STX4	Cis_1M	lymphoblastoid	RTeQTL
rs12445650	HSD3B7	cis	Esophagus Mucosa	GTEx
rs12445650	MYST1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31043400-31045600	Active TSS	Brain Angular Gyrus	brain
2	chr16:31043400-31045600	Active TSS	NHLF	lung
3	chr16:31043800-31045600	Active TSS	Muscle Satellite Cultured Cells	--
4	chr16:31043800-31045600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:31043800-31045600	Active TSS	Rectal Smooth Muscle	rectum
6	chr16:31043800-31045800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr16:31043800-31045800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr16:31043800-31045800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr16:31043800-31045800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:31043800-31045800	Active TSS	Colonic Mucosa	Colon
11	chr16:31043800-31045800	Active TSS	Colon Smooth Muscle	Colon
12	chr16:31043800-31045800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr16:31043800-31045800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr16:31043800-31045800	Active TSS	Fetal Lung	lung
15	chr16:31043800-31045800	Active TSS	NHDF-Ad	bronchial
16	chr16:31043800-31046000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:31043800-31046000	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr16:31043800-31046000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr16:31044000-31045600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr16:31044000-31045600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:31044000-31045600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:31044000-31045600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr16:31044000-31045600	Active TSS	Fetal Intestine Large	intestine
24	chr16:31044000-31045600	Active TSS	Fetal Kidney	kidney
25	chr16:31044000-31045600	Active TSS	Left Ventricle	heart
26	chr16:31044000-31045600	Active TSS	Ovary	ovary
27	chr16:31044000-31045600	Active TSS	Small Intestine	intestine
28	chr16:31044000-31045800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr16:31044000-31045800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:31044000-31045800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:31044000-31045800	Active TSS	Aorta	Aorta
32	chr16:31044000-31045800	Active TSS	Fetal Intestine Small	intestine
33	chr16:31044000-31045800	Active TSS	Gastric	stomach
34	chr16:31044000-31045800	Active TSS	Placenta Amnion	Placenta Amnion
35	chr16:31044000-31045800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr16:31044000-31046000	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr16:31044200-31045200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:31044200-31045600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr16:31044200-31045600	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr16:31044200-31045600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:31044200-31045600	Active TSS	Liver	Liver
42	chr16:31044200-31045600	Active TSS	Brain Anterior Caudate	brain
43	chr16:31044200-31045600	Active TSS	Brain Hippocampus Middle	brain
44	chr16:31044200-31045600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr16:31044200-31045600	Active TSS	Esophagus	oesophagus
46	chr16:31044200-31045600	Active TSS	Fetal Brain Male	brain
47	chr16:31044200-31045600	Active TSS	Fetal Heart	heart
48	chr16:31044200-31045600	Active TSS	Fetal Stomach	stomach
49	chr16:31044200-31045600	Active TSS	Lung	lung
50	chr16:31044200-31045600	Active TSS	HSMMtube	muscle

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