Variant report

Variant	esv34131
Chromosome Location	chr16:65137094-65379496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr16:65147949-65148031	K562	blood:	n/a	n/a
2	ATF2	chr16:65261934-65263743	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr16:65259923-65260594	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr16:65260879-65261827	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr16:65156827-65157833	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr16:65155487-65156279	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr16:65154762-65154923	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr16:65151988-65152175	GM12878	blood:	n/a	n/a
9	BRCA1	chr16:65259709-65259713	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr16:65342499-65342848	IMR90	lung:	n/a	chr16:65342665-65342674 chr16:65342664-65342675 chr16:65342663-65342674
11	CEBPB	chr16:65153864-65154608	IMR90	lung:	n/a	n/a
12	CEBPB	chr16:65180494-65180751	HepG2	liver:	n/a	chr16:65180628-65180639
13	CEBPB	chr16:65159915-65160140	H1-hESC	embryonic stem cell:	n/a	chr16:65160022-65160033 chr16:65160020-65160037 chr16:65160021-65160034
14	CEBPB	chr16:65151658-65152211	IMR90	lung:	n/a	n/a
15	CEBPB	chr16:65182728-65183089	HepG2	liver:	n/a	chr16:65182904-65182915
16	CEBPB	chr16:65159839-65160224	IMR90	lung:	n/a	chr16:65160022-65160033 chr16:65160020-65160037 chr16:65160021-65160034
17	CEBPB	chr16:65143740-65143915	HepG2	liver:	n/a	chr16:65143840-65143851
18	CEBPB	chr16:65318728-65319070	IMR90	lung:	n/a	n/a
19	CEBPB	chr16:65277559-65277787	A549	lung:	n/a	chr16:65277714-65277727 chr16:65277716-65277725 chr16:65277714-65277725 chr16:65277716-65277725 chr16:65277716-65277725 chr16:65277714-65277727 chr16:65277716-65277725 chr16:65277688-65277701
20	CEBPB	chr16:65151763-65152111	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr16:65277562-65277865	K562	blood:	n/a	chr16:65277714-65277727 chr16:65277716-65277725 chr16:65277714-65277725 chr16:65277716-65277725 chr16:65277716-65277725 chr16:65277714-65277727 chr16:65277716-65277725 chr16:65277688-65277701
22	CEBPB	chr16:65159888-65160205	A549	lung:	n/a	chr16:65160022-65160033 chr16:65160020-65160037 chr16:65160021-65160034
23	CEBPB	chr16:65316473-65316805	HepG2	liver:	n/a	chr16:65316632-65316643
24	CEBPB	chr16:65203632-65203658	HepG2	liver:	n/a	n/a
25	CEBPB	chr16:65150853-65151210	IMR90	lung:	n/a	n/a
26	CEBPB	chr16:65263125-65263403	HepG2	liver:	n/a	chr16:65263228-65263239
27	CEBPB	chr16:65248130-65248461	IMR90	lung:	n/a	chr16:65248193-65248204 chr16:65248193-65248204 chr16:65248269-65248281
28	CEBPB	chr16:65182755-65183100	A549	lung:	n/a	chr16:65182904-65182915
29	CEBPB	chr16:65182813-65183037	K562	blood:	n/a	chr16:65182904-65182915
30	CEBPB	chr16:65159869-65160196	HepG2	liver:	n/a	chr16:65160022-65160033 chr16:65160020-65160037 chr16:65160021-65160034
31	CEBPB	chr16:65340401-65340645	IMR90	lung:	n/a	n/a
32	CEBPB	chr16:65277192-65277826	HepG2	liver:	n/a	chr16:65277714-65277727 chr16:65277716-65277725 chr16:65277714-65277725 chr16:65277716-65277725 chr16:65277716-65277725 chr16:65277714-65277727 chr16:65277368-65277379 chr16:65277716-65277725 chr16:65277688-65277701
33	CEBPB	chr16:65155792-65155828	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr16:65277539-65277817	IMR90	lung:	n/a	chr16:65277714-65277727 chr16:65277716-65277725 chr16:65277714-65277725 chr16:65277716-65277725 chr16:65277716-65277725 chr16:65277714-65277727 chr16:65277716-65277725 chr16:65277688-65277701
35	CEBPB	chr16:65342527-65342801	A549	lung:	n/a	chr16:65342665-65342674 chr16:65342664-65342675 chr16:65342663-65342674
36	CEBPB	chr16:65234788-65235063	K562	blood:	n/a	chr16:65234947-65234958 chr16:65234949-65234958 chr16:65234947-65234960 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234960
37	CEBPB	chr16:65158944-65159169	A549	lung:	n/a	chr16:65159055-65159066
38	CEBPB	chr16:65234772-65235134	IMR90	lung:	n/a	chr16:65234947-65234958 chr16:65234949-65234958 chr16:65234947-65234960 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234960
39	CEBPB	chr16:65182724-65183081	IMR90	lung:	n/a	chr16:65182904-65182915
40	CEBPB	chr16:65342502-65342766	H1-hESC	embryonic stem cell:	n/a	chr16:65342665-65342674 chr16:65342664-65342675 chr16:65342663-65342674
41	CEBPB	chr16:65158869-65159224	IMR90	lung:	n/a	chr16:65159055-65159066
42	CEBPB	chr16:65158911-65159232	HepG2	liver:	n/a	chr16:65159055-65159066
43	CEBPB	chr16:65370185-65370540	IMR90	lung:	n/a	n/a
44	CEBPB	chr16:65153180-65153388	HepG2	liver:	n/a	chr16:65153263-65153274
45	CEBPB	chr16:65346613-65346935	IMR90	lung:	n/a	chr16:65346622-65346634 chr16:65346613-65346626 chr16:65346624-65346635
46	CEBPB	chr16:65234774-65235134	HepG2	liver:	n/a	chr16:65234947-65234958 chr16:65234949-65234958 chr16:65234947-65234960 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234960
47	CEBPB	chr16:65318711-65319058	HepG2	liver:	n/a	n/a
48	CEBPB	chr16:65176086-65176246	HepG2	liver:	n/a	chr16:65176108-65176119
49	CEBPB	chr16:65234791-65235118	Hela-S3	cervix:	n/a	chr16:65234947-65234958 chr16:65234949-65234958 chr16:65234947-65234960 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234958 chr16:65234949-65234960
50	CEBPB	chr16:65263041-65263616	IMR90	lung:	n/a	chr16:65263228-65263239

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:65317824-65317874	HUVEC	blood vessel:	n/a
2	chr16:65157839-65157889	GM06990	blood:	n/a
3	chr16:65155639-65155689	SKMC	muscle:	n/a
4	chr16:65317824-65317874	HUVEC	blood vessel:	n/a
5	chr16:65157839-65157889	GM06990	blood:	n/a
6	chr16:65155639-65155689	SKMC	muscle:	n/a
7	chr16:65157663-65157713	MCF-7	breast:	n/a
8	chr16:65155639-65155689	BJ	skin:	n/a
9	chr16:65315918-65315968	HCM	heart:	n/a
10	chr16:65317824-65317874	SK-N-MC	brain:	n/a
11	chr16:65155639-65155689	MCF-7	breast:	n/a
12	chr16:65236094-65236144	RPTEC	kidney:	n/a
13	chr16:65155841-65155891	HUVEC	blood vessel:	n/a
14	chr16:65149083-65149133	HEK293	kidney:	embryo
15	chr16:65157663-65157713	HRPEpiC	eye:	n/a
16	chr16:65160241-65160291	NHDF-neo	bronchial:	n/a
17	chr16:65256595-65256645	A549	lung:	n/a
18	chr16:65158052-65158102	BJ	skin:	n/a
19	chr16:65154657-65154707	Caco-2	colon:	n/a
20	chr16:65157428-65157478	SK-N-SH_RA	brain:	n/a
21	chr16:65317824-65317874	PrEC	prostate:	n/a
22	chr16:65152965-65153015	ProgFib	skin:	n/a
23	chr16:65155141-65155191	AoSMC	blood vessel:	n/a
24	chr16:65157839-65157889	GM19239	blood:	n/a
25	chr16:65315918-65315968	NH-A	brain:	n/a
26	chr16:65157428-65157478	HUVEC	blood vessel:	n/a
27	chr16:65152097-65152147	PANC-1	pancreas:	n/a
28	chr16:65315918-65315968	A549	lung:	n/a
29	chr16:65160241-65160291	A549	lung:	n/a
30	chr16:65312403-65312453	HCF	heart:	n/a
31	chr16:65269452-65269502	GM19239	blood:	n/a
32	chr16:65341412-65341462	HEEpiC	esophagus:	n/a
33	chr16:65155639-65155689	NB4	blood:	n/a
34	chr16:65256595-65256645	GM12878	blood:	n/a
35	chr16:65152097-65152147	K562	blood:	n/a
36	chr16:65155141-65155191	HepG2	liver:	n/a
37	chr16:65154657-65154707	ProgFib	skin:	n/a
38	chr16:65152097-65152147	IMR90	lung:	fetal
39	chr16:65157050-65157100	Caco-2	colon:	n/a
40	chr16:65155141-65155191	ovcar-3	ovarian:	n/a
41	chr16:65149083-65149133	GM12878	blood:	n/a
42	chr16:65157050-65157100	HepG2	liver:	n/a
43	chr16:65312403-65312453	NB4	blood:	n/a
44	chr16:65155141-65155191	ProgFib	skin:	n/a
45	chr16:65158052-65158102	Hepatocyte	liver:	n/a
46	chr16:65261243-65261293	SAEC	small airway:	n/a
47	chr16:65317824-65317874	AG10803	skin:	n/a
48	chr16:65152965-65153015	NHDF-neo	bronchial:	n/a
49	chr16:65155639-65155689	ProgFib	skin:	n/a
50	chr16:65149083-65149133	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:64404046..64406542-chr16:65151136..65153056,2	MCF-7	breast:
2	chr16:65284590..65286307-chr16:65286570..65288207,2	MCF-7	breast:
3	chr16:65373890..65374390-chr3:143136393..143136917,2	Hela-S3	cervix:
4	chr16:65284590..65286307-chr16:65286570..65288207,2	MCF-7	breast:
5	chr16:65375577..65377983-chr16:65379328..65381832,3	MCF-7	breast:
6	chr16:65134846..65136786-chr16:65138250..65139943,2	MCF-7	breast:
7	chr16:65375577..65377983-chr16:65379328..65381832,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH11-1	chr16:65175263-65175886	XLOC_011976
2	lnc-TK2-12	chr16:65157577-65158091	NONHSAT142964
3	lnc-CDH11-2	chr16:65261690-65261924	NONHSAT142974
4	lnc-CDH11-3	chr16:65318402-65319342	XLOC_011977
5	lnc-CDH11-3	chr16:65318927-65319342	ENSG00000261742.1
6	lnc-CDH11-3	chr16:65318402-65319342	XLOC_011977
7	lnc-CDH11-1	chr16:65210358-65210616	ENSG00000259847.1
8	lnc-CDH11-1	chr16:65210131-65210664	XLOC_011976
9	lnc-CDH11-1	chr16:65210054-65210103	ENSG00000259847.1
10	lnc-TK2-11	chr16:65143829-65143882	l_1350_chr16:65142762-65143882_testes
11	lnc-CDH11-3	chr16:65318402-65319342	ENSG00000250685
12	lnc-CDH11-1	chr16:65210358-65210476	ENSG00000259847.1
13	lnc-CDH11-3	chr16:65345317-65345450	ENSG00000250685
14	lnc-CDH11-2	chr16:65263884-65264121	NONHSAT142974
15	lnc-CDH11-1	chr16:65209069-65209222	XLOC_011976
16	lnc-CDH5-3	chr16:65285627-65285772	ENSG00000260364.1
17	lnc-CDH11-2	chr16:65261798-65261924	ENSG00000260834.1
18	lnc-CDH11-1	chr16:65209971-65210103	XLOC_011976
19	lnc-TK2-11	chr16:65142763-65143053	l_1350_chr16:65142762-65143882_testes
20	lnc-CDH5-4	chr16:65172004-65173706	XLOC_011753
21	lnc-CDH11-1	chr16:65175531-65175886	XLOC_011976
22	lnc-CDH11-2	chr16:65310215-65310258	NONHSAT142974
23	lnc-CDH5-3	chr16:65266959-65267083	ENSG00000260364.1
24	lnc-CDH5-4	chr16:65166561-65171710	FPKM1_group_11739_transcript_2
25	lnc-CDH11-1	chr16:65175659-65176002	ENSG00000259847.1
26	lnc-CDH5-4	chr16:65166561-65171710	NONHSAT142967
27	lnc-CDH11-3	chr16:65318854-65319342	XLOC_011977
28	lnc-CDH11-2	chr16:65264160-65264260	NONHSAT142974
29	lnc-TK2-12	chr16:65159673-65160015	NONHSAT142963
30	lnc-CDH11-3	chr16:65345317-65345336	XLOC_011977
31	lnc-TK2-12	chr16:65152704-65153064	NONHSAT142966
32	lnc-TK2-12	chr16:65155783-65155949	NONHSAT142962
33	lnc-CDH11-1	chr16:65175531-65175886	XLOC_011976
34	lnc-CDH11-3	chr16:65345317-65345450	XLOC_011977
35	lnc-CDH11-1	chr16:65209069-65209222	XLOC_011976
36	lnc-CDH11-2	chr16:65266918-65267013	NONHSAT142974
37	lnc-CDH11-1	chr16:65209971-65210103	ENSG00000259847.1
38	lnc-CDH11-2	chr16:65264636-65264782	NONHSAT142974
39	lnc-CDH11-2	chr16:65268789-65268807	ENSG00000260834.1
40	lnc-CDH11-3	chr16:65345317-65345450	ENSG00000250685
41	lnc-CDH11-2	chr16:65309694-65309808	NONHSAT142974
42	lnc-CDH5-4	chr16:65171566-65171710	XLOC_011753
43	lnc-CDH5-4	chr16:65167093-65168918	FPKM1_group_11739_transcript_2
44	lnc-TK2-12	chr16:65158137-65158189	NONHSAT142961
45	lnc-TK2-12	chr16:65155783-65155960	NONHSAT142966
46	lnc-TK2-12	chr16:65157577-65157723	NONHSAT142961
47	lnc-CDH11-3	chr16:65319100-65319342	XLOC_011977
48	lnc-CDH11-3	chr16:65318927-65319342	ENSG00000250685
49	lnc-CDH11-3	chr16:65345317-65345450	XLOC_011977
50	lnc-CDH11-1	chr16:65210358-65210664	XLOC_011976

Variant related genes	Relation type
ENSG00000260364	TF binding region
CDH11	TF binding region
ENSG00000259847	TF binding region
ENSG00000260834	TF binding region
ENSG00000260364	CpG island
CDH11	CpG island
ENSG00000259847	CpG island
ENSG00000260834	CpG island
EZH2	miRNA target sites
KCNJ2	miRNA target sites
TUB	miRNA target sites
HNF4A	miRNA target sites
RANBP17	miRNA target sites
RERE	miRNA target sites
SLC20A1	miRNA target sites
MAGI1	miRNA target sites
SOX2	miRNA target sites
SOAT1	miRNA target sites
KCNK1	miRNA target sites

Extended variants
information (count: 7068 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:7068 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12232421	chr16:65137094-65137095	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542123745	chr16:65137158-65137159	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116767895	chr16:65137164-65137165	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559112675	chr16:65137175-65137176	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190015363	chr16:65137183-65137184	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181766968	chr16:65137233-65137234	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186502692	chr16:65137239-65137240	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574767635	chr16:65137255-65137256	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs41465745	chr16:65137297-65137298	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189709374	chr16:65137307-65137308	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17510660	chr16:65137314-65137315	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs180992618	chr16:65137409-65137410	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559026295	chr16:65137434-65137435	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528217206	chr16:65137437-65137438	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142555477	chr16:65137454-65137455	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114091297	chr16:65137506-65137507	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186264756	chr16:65137531-65137532	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77842180	chr16:65137553-65137554	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550752354	chr16:65137566-65137567	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549177618	chr16:65137583-65137584	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191585645	chr16:65137622-65137623	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183044938	chr16:65137718-65137719	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546774339	chr16:65137749-65137750	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375247200	chr16:65137903-65137904	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188479339	chr16:65137904-65137905	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150544014	chr16:65137930-65137931	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534848774	chr16:65138005-65138006	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139462661	chr16:65138010-65138011	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149677856	chr16:65138015-65138016	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146623265	chr16:65138026-65138027	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16968496	chr16:65138042-65138043	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191683062	chr16:65138055-65138056	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546084104	chr16:65138114-65138115	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546820743	chr16:65138149-65138150	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35248515	chr16:65138197-65138198	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114160280	chr16:65138220-65138221	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573367151	chr16:65138231-65138232	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541587187	chr16:65138377-65138378	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111259010	chr16:65138405-65138406	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561791715	chr16:65138448-65138449	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530437011	chr16:65138456-65138457	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550511721	chr16:65138457-65138458	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183128031	chr16:65138465-65138466	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560273805	chr16:65138504-65138505	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377686810	chr16:65138532-65138533	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116452364	chr16:65138536-65138537	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546760623	chr16:65138545-65138546	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571246639	chr16:65138546-65138547	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538541304	chr16:65138578-65138579	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7203623	chr16:65138590-65138591	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1977 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65106200-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr16:65106400-65147600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr16:65106800-65151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:65113200-65141600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr16:65113600-65138800	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:65113800-65140400	Weak transcription	Fetal Brain Male	brain
8	chr16:65115800-65147600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:65117400-65141000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:65118400-65138400	Weak transcription	Fetal Stomach	stomach
11	chr16:65120800-65148600	Weak transcription	Aorta	Aorta
12	chr16:65122200-65147400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr16:65124400-65139200	Weak transcription	NHLF	lung
14	chr16:65126600-65140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:65129200-65148400	Weak transcription	Fetal Kidney	kidney
16	chr16:65130200-65147400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:65132600-65139400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:65133600-65141800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:65133800-65139000	Weak transcription	HSMMtube	muscle
20	chr16:65133800-65139800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:65134000-65138000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:65134200-65140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:65134200-65148600	Weak transcription	HMEC	breast
24	chr16:65135000-65137200	Strong transcription	HSMM	muscle
25	chr16:65135200-65137200	Strong transcription	Osteobl	bone
26	chr16:65135400-65139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:65135400-65143600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:65135800-65138400	Weak transcription	Brain Hippocampus Middle	brain
29	chr16:65136200-65137200	Genic enhancers	Ovary	ovary
30	chr16:65136600-65137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:65136600-65137200	Strong transcription	NHDF-Ad	bronchial
32	chr16:65136600-65138200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:65136800-65137200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:65136800-65141600	Weak transcription	NH-A	brain
35	chr16:65136800-65144600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr16:65137000-65138000	Weak transcription	Fetal Lung	lung
37	chr16:65137000-65138400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:65137000-65141800	Weak transcription	Spleen	Spleen
39	chr16:65137000-65147400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:65137200-65138000	Weak transcription	Ovary	ovary
41	chr16:65137200-65138400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:65137200-65138400	Weak transcription	Osteobl	bone
43	chr16:65137200-65139200	Weak transcription	NHDF-Ad	bronchial
44	chr16:65137200-65139600	Weak transcription	HSMM	muscle
45	chr16:65137200-65141600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:65138000-65138400	Enhancers	Fetal Lung	lung
47	chr16:65138000-65139200	Enhancers	Ovary	ovary
48	chr16:65138200-65142200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:65138400-65138600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:65138400-65139000	Enhancers	Osteobl	bone

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