Variant report

Variant	esv3393315
Chromosome Location	chr16:30933876-30936424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:662)
CpG islands
(count:915)
Chromatin interactive
region (count:55)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:30932953-30934765	HepG2	liver:	n/a	n/a
2	ATF1	chr16:30933417-30934902	K562	blood:	n/a	n/a
3	ATF2	chr16:30932733-30933979	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr16:30933577-30934345	GM12878	blood:	n/a	n/a
5	ATF2	chr16:30933583-30934201	GM12878	blood:	n/a	n/a
6	ATF2	chr16:30934357-30934882	GM12878	blood:	n/a	n/a
7	ATF3	chr16:30934232-30934862	GM12878	blood:	n/a	chr16:30934803-30934812
8	ATF3	chr16:30933732-30933996	GM12878	blood:	n/a	n/a
9	ATF3	chr16:30933614-30934106	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr16:30933612-30934050	K562	blood:	n/a	n/a
11	ATF3	chr16:30933547-30934148	GM12878	blood:	n/a	n/a
12	BACH1	chr16:30935592-30935784	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr16:30932995-30933956	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr16:30933325-30933904	K562	blood:	n/a	n/a
15	BCL3	chr16:30932966-30934080	A549	lung:	n/a	chr16:30934042-30934055 chr16:30933137-30933146
16	BCL3	chr16:30933165-30934193	A549	lung:	n/a	chr16:30934042-30934055
17	BCLAF1	chr16:30933538-30934866	GM12878	blood:	n/a	chr16:30934042-30934055
18	BCLAF1	chr16:30933599-30934872	GM12878	blood:	n/a	chr16:30934042-30934055
19	BHLHE40	chr16:30933764-30934796	HepG2	liver:	n/a	n/a
20	BHLHE40	chr16:30933683-30934843	GM12878	blood:	n/a	n/a
21	BHLHE40	chr16:30932951-30934806	K562	blood:	n/a	n/a
22	BRCA1	chr16:30933665-30934356	GM12878	blood:	n/a	n/a
23	BRCA1	chr16:30933614-30934703	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr16:30933470-30934678	HepG2	liver:	n/a	n/a
25	BRCA1	chr16:30933622-30934795	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr16:30932731-30934814	K562	blood:	n/a	chr16:30933872-30933883
27	CCNT2	chr16:30935580-30935779	K562	blood:	n/a	n/a
28	CCNT2	chr16:30933923-30934807	K562	blood:	n/a	n/a
29	CEBPB	chr16:30933748-30934763	HepG2	liver:	n/a	n/a
30	CEBPB	chr16:30933769-30933996	HepG2	liver:	n/a	n/a
31	CEBPB	chr16:30933618-30934815	K562	blood:	n/a	n/a
32	CEBPB	chr16:30933662-30934717	K562	blood:	n/a	n/a
33	CEBPB	chr16:30934105-30934721	GM12878	blood:	n/a	n/a
34	CEBPB	chr16:30933726-30934753	HepG2	liver:	n/a	n/a
35	CEBPB	chr16:30933701-30934776	IMR90	lung:	n/a	n/a
36	CEBPB	chr16:30933688-30934780	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr16:30933695-30934732	A549	lung:	n/a	n/a
38	CEBPB	chr16:30933280-30933896	GM12878	blood:	n/a	n/a
39	CEBPD	chr16:30933633-30934314	HepG2	liver:	n/a	n/a
40	CEBPD	chr16:30934366-30935145	HepG2	liver:	n/a	n/a
41	CEBPD	chr16:30934202-30935032	K562	blood:	n/a	n/a
42	CEBPD	chr16:30934625-30934953	HepG2	liver:	n/a	n/a
43	CHD1	chr16:30934904-30935027	GM12878	blood:	n/a	n/a
44	CHD1	chr16:30933053-30934680	GM12878	blood:	n/a	chr16:30934189-30934199 chr16:30933644-30933654
45	CHD2	chr16:30933588-30934925	GM12878	blood:	n/a	chr16:30934189-30934199 chr16:30933644-30933654
46	CHD2	chr16:30933609-30934835	HepG2	liver:	n/a	chr16:30934189-30934199 chr16:30933644-30933654
47	CHD2	chr16:30933599-30934943	Hela-S3	cervix:	n/a	chr16:30934189-30934199 chr16:30933644-30933654
48	CHD2	chr16:30933520-30934830	K562	blood:	n/a	chr16:30934189-30934199 chr16:30933644-30933654
49	CHD2	chr16:30933515-30934993	H1-hESC	embryonic stem cell:	n/a	chr16:30934189-30934199 chr16:30933644-30933654
50	CREB1	chr16:30932855-30935036	K562	blood:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30934656-30934706	GM12878	blood:	n/a
2	chr16:30935391-30935441	U87	brain:	n/a
3	chr16:30933937-30933987	HUVEC	blood vessel:	n/a
4	chr16:30935822-30935872	SK-N-MC	brain:	n/a
5	chr16:30935557-30935607	RPTEC	kidney:	n/a
6	chr16:30935822-30935872	HCF	heart:	n/a
7	chr16:30934696-30934746	AG09319	gingival:	n/a
8	chr16:30934334-30934384	NH-A	brain:	n/a
9	chr16:30934684-30934734	GM12891	blood:	n/a
10	chr16:30935822-30935872	GM06990	blood:	n/a
11	chr16:30935108-30935158	HCPEpiC	choroid plexus:	n/a
12	chr16:30935822-30935872	HCPEpiC	choroid plexus:	n/a
13	chr16:30934696-30934746	NHDF-neo	bronchial:	n/a
14	chr16:30934656-30934706	HAEpiC	amniotic membrane:	n/a
15	chr16:30934696-30934746	RPTEC	kidney:	n/a
16	chr16:30934656-30934706	Hepatocyte	liver:	n/a
17	chr16:30934684-30934734	SKMC	muscle:	n/a
18	chr16:30935108-30935158	A549	lung:	n/a
19	chr16:30934684-30934734	HCT-116	colon:	n/a
20	chr16:30934696-30934746	K562	blood:	n/a
21	chr16:30934156-30934206	HNPCEpiC	eye:	n/a
22	chr16:30934656-30934706	AG04450	lung:	fetal
23	chr16:30934684-30934734	HMEC	breast:	n/a
24	chr16:30934666-30934716	Caco-2	colon:	n/a
25	chr16:30935822-30935872	HCT-116	colon:	n/a
26	chr16:30935557-30935607	AG09319	gingival:	n/a
27	chr16:30935557-30935607	HRE	kidney:	n/a
28	chr16:30934666-30934716	HEK293	kidney:	embryo
29	chr16:30934177-30934227	ovcar-3	ovarian:	n/a
30	chr16:30935557-30935607	HAEpiC	amniotic membrane:	n/a
31	chr16:30934177-30934227	HIPEpiC	eye:	n/a
32	chr16:30935108-30935158	AG10803	skin:	n/a
33	chr16:30934684-30934734	NHDF-neo	bronchial:	n/a
34	chr16:30934727-30934777	U87	brain:	n/a
35	chr16:30934696-30934746	Hepatocyte	liver:	n/a
36	chr16:30934334-30934384	HepG2	liver:	n/a
37	chr16:30935822-30935872	HIPEpiC	eye:	n/a
38	chr16:30934684-30934734	T-47D	breast:	n/a
39	chr16:30934177-30934227	Jurkat	blood:	n/a
40	chr16:30935822-30935872	HEEpiC	esophagus:	n/a
41	chr16:30934696-30934746	HRCEpiC	kidney:	n/a
42	chr16:30934696-30934746	AG04449	skin:	fetal
43	chr16:30934684-30934734	NT2-D1	testis:	n/a
44	chr16:30935108-30935158	AG04450	lung:	fetal
45	chr16:30934684-30934734	U87	brain:	n/a
46	chr16:30934684-30934734	HPAEpiC	pulmonary alveolar:	n/a
47	chr16:30935391-30935441	RPTEC	kidney:	n/a
48	chr16:30934156-30934206	CMK	blood:	n/a
49	chr16:30934727-30934777	GM06990	blood:	n/a
50	chr16:30935557-30935607	HCT-116	colon:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:30783772..30791593-chr16:30931071..30936822,9	MCF-7	breast:
2	chr16:30904584..30910124-chr16:30931578..30937019,11	K562	blood:
3	chr16:30933762..30935434-chr16:30953363..30955421,2	K562	blood:
4	chr16:30933863..30936209-chr16:30967329..30971439,5	MCF-7	breast:
5	chr16:30795368..30800075-chr16:30931111..30935900,11	MCF-7	breast:
6	chr16:30931619..30936181-chr16:30955998..30963201,14	K562	blood:
7	chr16:30771138..30775135-chr16:30932116..30935546,5	K562	blood:
8	chr16:30758359..30761183-chr16:30932981..30935164,3	MCF-7	breast:
9	chr16:30933224..30936181-chr16:31190353..31192929,3	MCF-7	breast:
10	chr16:30785189..30790485-chr16:30931540..30936077,12	K562	blood:
11	chr16:30884320..30888249-chr16:30933469..30936807,5	MCF-7	breast:
12	chr16:30795105..30800041-chr16:30931976..30937405,9	MCF-7	breast:
13	chr16:30784974..30791554-chr16:30930641..30936449,8	MCF-7	breast:
14	chr15:65596692..65597389-chr16:30934283..30934876,2	Hela-S3	cervix:
15	chr16:30669272..30672997-chr16:30933501..30936286,4	MCF-7	breast:
16	chr16:30775945..30778308-chr16:30932961..30936468,4	MCF-7	breast:
17	chr16:30919055..30921667-chr16:30931962..30935622,4	K562	blood:
18	chr16:30933684..30934271-chr17:73775388..73775888,2	Hela-S3	cervix:
19	chr16:30932667..30934937-chr16:30952381..30954780,2	K562	blood:
20	chr16:30885239..30889762-chr16:30932057..30936596,5	K562	blood:
21	chr16:30785189..30790485-chr16:30931540..30935208,7	K562	blood:
22	chr16:30749500..30754511-chr16:30932304..30935822,6	MCF-7	breast:
23	chr16:30757630..30759751-chr16:30932681..30935536,3	K562	blood:
24	chr16:30707963..30711732-chr16:30932569..30936139,6	K562	blood:
25	chr1:156698589..156699364-chr16:30933347..30934094,2	Hela-S3	cervix:
26	chr16:30885095..30888093-chr16:30931834..30934580,5	MCF-7	breast:
27	chr16:30933979..30936655-chr16:30960385..30962981,2	MCF-7	breast:
28	chr16:30932533..30935734-chr16:30966751..30970803,5	K562	blood:
29	chr16:30932689..30934576-chr16:31084033..31085909,2	MCF-7	breast:
30	chr16:30902664..30909579-chr16:30931454..30940613,20	MCF-7	breast:
31	chr16:30771064..30772842-chr16:30931594..30934541,3	MCF-7	breast:
32	chr16:30757799..30759751-chr16:30933800..30935636,3	K562	blood:
33	chr16:30666829..30669508-chr16:30932265..30935039,3	K562	blood:
34	chr16:30933650..30935659-chr16:30958859..30961099,3	MCF-7	breast:
35	chr16:30666829..30670641-chr16:30932372..30935048,3	K562	blood:
36	chr16:30932570..30935399-chr16:30951570..30953747,3	MCF-7	breast:
37	chr16:30934180..30936242-chr16:30957636..30959919,2	MCF-7	breast:
38	chr16:30885123..30887354-chr16:30932881..30934600,2	K562	blood:
39	chr16:30708299..30711208-chr16:30931702..30936734,5	MCF-7	breast:
40	chr11:34126726..34127246-chr16:30933771..30934555,2	NB4	blood:
41	chr16:30932022..30936181-chr16:30958194..30961985,7	K562	blood:
42	chr16:30708909..30711747-chr16:30932178..30935236,6	MCF-7	breast:
43	chr16:30902291..30910124-chr16:30929571..30937617,16	K562	blood:
44	chr16:30717638..30720384-chr16:30932355..30934222,2	K562	blood:
45	chr16:30773358..30775666-chr16:30933218..30935538,2	MCF-7	breast:
46	chr16:30932533..30936330-chr16:30966882..30969248,5	K562	blood:
47	chr16:30660621..30663069-chr16:30932117..30934352,2	MCF-7	breast:
48	chr16:30931053..30936697-chr16:30966530..30971104,6	MCF-7	breast:
49	chr16:30931099..30935683-chr16:30951173..30955369,5	MCF-7	breast:
50	chr16:30708050..30711529-chr16:30932244..30936391,8	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL7C-2	chr16:30930640-30934590	ENSG00000260852.1

No data

Variant related genes	Relation type
FBXL19	TF binding region
FBXL19-AS1	TF binding region
FBXL19	CpG island
FBXL19-AS1	CpG island
ENSG00000080603	chromatin interactions
ENSG00000099385	chromatin interactions
ENSG00000230447	chromatin interactions
ENSG00000156873	chromatin interactions
ENSG00000261487	chromatin interactions
ENSG00000099364	chromatin interactions
ENSG00000196118	chromatin interactions
ENSG00000102870	chromatin interactions
ENSG00000156860	chromatin interactions
ENSG00000175938	chromatin interactions
ENSG00000262721	chromatin interactions
ENSG00000260899	chromatin interactions
ENSG00000143319	chromatin interactions
ENSG00000167395	chromatin interactions
ENSG00000156858	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000135372	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000099381	chromatin interactions
ENSG00000211591	chromatin interactions
ENSG00000143303	chromatin interactions
ENSG00000260083	chromatin interactions
ENSG00000103549	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000167394	chromatin interactions
ENSG00000262026	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000150281	chromatin interactions
ENSG00000265991	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141345629	chr16:30933902-30933903	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
2	rs116566908	chr16:30933905-30933906	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
3	rs142592691	chr16:30933908-30933909	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
4	rs370935618	chr16:30933934-30933935	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
5	rs188206247	chr16:30933959-30933960	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
6	rs151069683	chr16:30934013-30934014	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
7	rs192762891	chr16:30934049-30934050	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
8	rs3813020	chr16:30934075-30934076	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs371268352	chr16:30934094-30934095	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
10	rs536729049	chr16:30934107-30934108	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
11	rs140973394	chr16:30934118-30934119	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
12	rs573217038	chr16:30934127-30934128	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
13	rs201034706	chr16:30934134-30934135	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
14	rs549534156	chr16:30934166-30934167	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
15	rs561462134	chr16:30934189-30934190	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
16	rs150202164	chr16:30934293-30934294	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
17	rs185275374	chr16:30934309-30934310	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
18	rs532001310	chr16:30934322-30934323	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
19	rs146780755	chr16:30934366-30934367	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
20	rs78698358	chr16:30934411-30934412	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
21	rs562786176	chr16:30934442-30934443	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
22	rs530315241	chr16:30934511-30934512	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
23	rs550224186	chr16:30934564-30934565	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
24	rs548444169	chr16:30934572-30934573	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
25	rs571622704	chr16:30934573-30934574	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
26	rs567360813	chr16:30934579-30934580	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
27	rs528139245	chr16:30934617-30934618	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
28	rs116901551	chr16:30934635-30934636	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
29	rs571239781	chr16:30934675-30934676	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
30	rs539145771	chr16:30934725-30934726	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs538967908	chr16:30934748-30934749	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs557283714	chr16:30934768-30934769	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs575531356	chr16:30934783-30934784	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs188538403	chr16:30934843-30934844	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs530252545	chr16:30934844-30934845	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs140746525	chr16:30934857-30934858	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs547953715	chr16:30934875-30934876	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
38	rs536457328	chr16:30934900-30934901	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
39	rs554433127	chr16:30934962-30934963	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
40	rs192205338	chr16:30935090-30935091	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
41	rs540350310	chr16:30935176-30935177	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
42	rs555067099	chr16:30935362-30935363	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
43	rs576819026	chr16:30935367-30935368	Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
44	rs544555118	chr16:30935402-30935403	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
45	rs562848154	chr16:30935506-30935507	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
46	rs530287210	chr16:30935510-30935511	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
47	rs542422628	chr16:30935533-30935534	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
48	rs560450610	chr16:30935666-30935667	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs528215692	chr16:30935840-30935841	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs546701585	chr16:30935849-30935850	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	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
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30932200-30936600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:30932400-30934800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:30932600-30936000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr16:30932800-30934600	Active TSS	NHDF-Ad	bronchial
5	chr16:30932800-30935000	Active TSS	Fetal Lung	lung
6	chr16:30932800-30935600	Active TSS	HUVEC	blood vessel
7	chr16:30932800-30935800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:30932800-30935800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:30932800-30935800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:30932800-30935800	Active TSS	Brain Hippocampus Middle	brain
11	chr16:30932800-30935800	Active TSS	Pancreas	Pancrea
12	chr16:30932800-30935800	Active TSS	Rectal Smooth Muscle	rectum
13	chr16:30932800-30935800	Active TSS	Thymus	Thymus
14	chr16:30932800-30936000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr16:30932800-30936000	Active TSS	Brain Angular Gyrus	brain
16	chr16:30932800-30936000	Active TSS	Brain Cingulate Gyrus	brain
17	chr16:30932800-30936000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr16:30932800-30936000	Active TSS	Fetal Brain Female	brain
19	chr16:30932800-30936000	Active TSS	Fetal Intestine Large	intestine
20	chr16:30932800-30936000	Active TSS	A549	lung
21	chr16:30932800-30936200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:30932800-30936200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:30932800-30936400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:30932800-30936400	Active TSS	Fetal Kidney	kidney
25	chr16:30932800-30936800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr16:30932800-30936800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr16:30932800-30936800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr16:30932800-30936800	Active TSS	HSMM	muscle
29	chr16:30932800-30937000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr16:30933000-30934000	Transcr. at gene 5' and 3'	Right Atrium	heart
31	chr16:30933000-30934600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr16:30933000-30935000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr16:30933000-30935200	Active TSS	Brain Substantia Nigra	brain
34	chr16:30933000-30935400	Active TSS	Primary T cells from cord blood	blood
35	chr16:30933000-30935400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:30933000-30935600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr16:30933000-30935600	Active TSS	Colonic Mucosa	Colon
38	chr16:30933000-30935600	Active TSS	Gastric	stomach
39	chr16:30933000-30935600	Active TSS	Psoas Muscle	Psoas
40	chr16:30933000-30935600	Active TSS	Right Ventricle	heart
41	chr16:30933000-30935600	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr16:30933000-30935800	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr16:30933000-30935800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:30933000-30935800	Active TSS	Aorta	Aorta
45	chr16:30933000-30935800	Active TSS	Colon Smooth Muscle	Colon
46	chr16:30933000-30935800	Active TSS	Small Intestine	intestine
47	chr16:30933000-30935800	Active TSS	NHEK	skin
48	chr16:30933000-30936000	Active TSS	Fetal Intestine Small	intestine
49	chr16:30933000-30936000	Active TSS	Fetal Stomach	stomach
50	chr16:30933000-30936000	Active TSS	Left Ventricle	heart

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