Variant report

Variant	nsv1022388
Chromosome Location	chr7:16251992-16431864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:934)
CpG islands
(count:61)
Chromatin interactive
region (count:135)
LncRNA
region (count:38)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:16299684-16300431	K562	blood:	n/a	n/a
2	ARID3A	chr7:16316566-16316667	K562	blood:	n/a	n/a
3	ARID3A	chr7:16358762-16358838	K562	blood:	n/a	n/a
4	ARID3A	chr7:16308350-16309290	K562	blood:	n/a	n/a
5	ARID3A	chr7:16299083-16299409	K562	blood:	n/a	n/a
6	ARID3A	chr7:16304739-16305925	K562	blood:	n/a	n/a
7	ARID3A	chr7:16252388-16252536	K562	blood:	n/a	n/a
8	ARID3A	chr7:16302411-16302607	K562	blood:	n/a	n/a
9	ARID3A	chr7:16395882-16396058	K562	blood:	n/a	n/a
10	ARID3A	chr7:16307063-16308041	K562	blood:	n/a	n/a
11	ARID3A	chr7:16300636-16301991	K562	blood:	n/a	n/a
12	ARID3A	chr7:16315775-16315950	K562	blood:	n/a	n/a
13	ATF1	chr7:16416812-16417091	K562	blood:	n/a	n/a
14	ATF1	chr7:16304760-16305221	K562	blood:	n/a	n/a
15	ATF1	chr7:16385921-16386215	K562	blood:	n/a	n/a
16	ATF1	chr7:16300049-16300351	K562	blood:	n/a	n/a
17	ATF1	chr7:16429321-16429351	K562	blood:	n/a	n/a
18	ATF1	chr7:16266719-16266733	K562	blood:	n/a	n/a
19	ATF1	chr7:16301437-16301703	K562	blood:	n/a	n/a
20	ATF1	chr7:16308377-16309311	K562	blood:	n/a	n/a
21	ATF1	chr7:16387453-16387736	K562	blood:	n/a	n/a
22	ATF3	chr7:16308269-16309108	K562	blood:	n/a	n/a
23	BACH1	chr7:16328920-16329240	K562	blood:	n/a	n/a
24	BACH1	chr7:16316614-16316635	K562	blood:	n/a	n/a
25	BATF	chr7:16390376-16390578	GM12878	blood:	n/a	chr7:16390477-16390488
26	BCL3	chr7:16308310-16309048	K562	blood:	n/a	n/a
27	BCLAF1	chr7:16301267-16301844	K562	blood:	n/a	n/a
28	BCLAF1	chr7:16305341-16306186	K562	blood:	n/a	n/a
29	BCLAF1	chr7:16308244-16309056	K562	blood:	n/a	n/a
30	BCLAF1	chr7:16308322-16309035	K562	blood:	n/a	n/a
31	BHLHE40	chr7:16306312-16306532	K562	blood:	n/a	n/a
32	BHLHE40	chr7:16304830-16305615	K562	blood:	n/a	n/a
33	BHLHE40	chr7:16303074-16303109	K562	blood:	n/a	n/a
34	BHLHE40	chr7:16297424-16297442	K562	blood:	n/a	n/a
35	BHLHE40	chr7:16317891-16317898	K562	blood:	n/a	n/a
36	BHLHE40	chr7:16308296-16309332	K562	blood:	n/a	n/a
37	CBX3	chr7:16384491-16385157	K562	blood:	n/a	n/a
38	CBX3	chr7:16332482-16333004	K562	blood:	n/a	n/a
39	CBX3	chr7:16271850-16272277	K562	blood:	n/a	n/a
40	CBX3	chr7:16308343-16309472	K562	blood:	n/a	n/a
41	CBX3	chr7:16332614-16333058	K562	blood:	n/a	n/a
42	CBX3	chr7:16411761-16412174	K562	blood:	n/a	n/a
43	CBX3	chr7:16384481-16385000	K562	blood:	n/a	n/a
44	CBX3	chr7:16312862-16313345	K562	blood:	n/a	n/a
45	CBX3	chr7:16384539-16385013	HCT-116	colon:	n/a	n/a
46	CBX3	chr7:16308325-16309283	K562	blood:	n/a	n/a
47	CBX3	chr7:16374948-16375310	K562	blood:	n/a	n/a
48	CBX3	chr7:16269898-16270150	K562	blood:	n/a	n/a
49	CBX3	chr7:16295561-16295958	K562	blood:	n/a	n/a
50	CBX3	chr7:16269828-16270194	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:16254882-16254932	HCT-116	colon:	n/a
2	chr7:16254882-16254932	AG04449	skin:	fetal
3	chr7:16254882-16254932	NH-A	brain:	n/a
4	chr7:16254882-16254932	HRCEpiC	kidney:	n/a
5	chr7:16254882-16254932	NHDF-neo	bronchial:	n/a
6	chr7:16254882-16254932	MCF-7	breast:	n/a
7	chr7:16254882-16254932	HPAEpiC	pulmonary alveolar:	n/a
8	chr7:16254882-16254932	Hela-S3	cervix:	n/a
9	chr7:16254882-16254932	AG04450	lung:	fetal
10	chr7:16254882-16254932	MCF10A-Er-Src	breast:	n/a
11	chr7:16254882-16254932	Hepatocyte	liver:	n/a
12	chr7:16254882-16254932	Caco-2	colon:	n/a
13	chr7:16254882-16254932	ECC-1	luminal epithelium:	n/a
14	chr7:16254882-16254932	SKMC	muscle:	n/a
15	chr7:16254882-16254932	K562	blood:	n/a
16	chr7:16254882-16254932	LNCaP	prostate:	n/a
17	chr7:16254882-16254932	BJ	skin:	n/a
18	chr7:16254882-16254932	GM19239	blood:	n/a
19	chr7:16254882-16254932	HUVEC	blood vessel:	n/a
20	chr7:16254882-16254932	GM12892	blood:	n/a
21	chr7:16254882-16254932	GM06990	blood:	n/a
22	chr7:16254882-16254932	NB4	blood:	n/a
23	chr7:16254882-16254932	IMR90	lung:	fetal
24	chr7:16254882-16254932	RPTEC	kidney:	n/a
25	chr7:16254882-16254932	HRE	kidney:	n/a
26	chr7:16254882-16254932	AG09309	skin:	n/a
27	chr7:16254882-16254932	NT2-D1	testis:	n/a
28	chr7:16254882-16254932	A549	lung:	n/a
29	chr7:16254882-16254932	SAEC	small airway:	n/a
30	chr7:16254882-16254932	AG10803	skin:	n/a
31	chr7:16254882-16254932	HepG2	liver:	n/a
32	chr7:16254882-16254932	HL-60	blood:	n/a
33	chr7:16254882-16254932	HMEC	breast:	n/a
34	chr7:16254882-16254932	HCF	heart:	n/a
35	chr7:16254882-16254932	HRPEpiC	eye:	n/a
36	chr7:16254882-16254932	NHBE	bronchial:	n/a
37	chr7:16254882-16254932	AoSMC	blood vessel:	n/a
38	chr7:16254882-16254932	SK-N-SH	brain:	n/a
39	chr7:16254882-16254932	HEK293	kidney:	embryo
40	chr7:16254882-16254932	HNPCEpiC	eye:	n/a
41	chr7:16254882-16254932	Jurkat	blood:	n/a
42	chr7:16254882-16254932	PANC-1	pancreas:	n/a
43	chr7:16254882-16254932	BE2_C	brain:	n/a
44	chr7:16254882-16254932	AG09319	gingival:	n/a
45	chr7:16254882-16254932	SK-N-MC	brain:	n/a
46	chr7:16254882-16254932	SK-N-SH_RA	brain:	n/a
47	chr7:16254882-16254932	GM12878	blood:	n/a
48	chr7:16254882-16254932	HAEpiC	amniotic membrane:	n/a
49	chr7:16254882-16254932	HCPEpiC	choroid plexus:	n/a
50	chr7:16254882-16254932	ProgFib	skin:	n/a

(count:135 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:16402270..16404238-chr7:16406373..16408999,2	K562	blood:
2	chr7:16317326..16322342-chr7:16324212..16328939,6	K562	blood:
3	chr7:16333849..16337358-chr7:16346440..16349011,3	K562	blood:
4	chr7:16328237..16331121-chr7:16335386..16337666,3	K562	blood:
5	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:
6	chr7:16328904..16333802-chr7:16457982..16461920,4	K562	blood:
7	chr7:16361901..16363592-chr7:16364009..16366007,2	K562	blood:
8	chr7:16300347..16301994-chr7:16462021..16464400,2	K562	blood:
9	chr7:16397851..16402172-chr7:16402336..16405323,3	K562	blood:
10	chr7:16429864..16431992-chr7:16432066..16434396,2	K562	blood:
11	chr7:16427338..16429420-chr7:16432571..16434518,2	K562	blood:
12	chr7:16319990..16321982-chr7:16331383..16333480,3	K562	blood:
13	chr7:16303209..16307181-chr7:16682528..16687363,4	K562	blood:
14	chr7:16271837..16274588-chr7:16275186..16279473,3	K562	blood:
15	chr7:16322591..16325161-chr7:16326295..16328787,3	K562	blood:
16	chr7:16274806..16276431-chr7:16298235..16300903,2	K562	blood:
17	chr7:16332203..16333821-chr7:16335558..16338156,2	K562	blood:
18	chr7:16277063..16278861-chr7:16280781..16282424,2	K562	blood:
19	chr7:16329621..16333476-chr7:16335490..16337666,4	K562	blood:
20	chr7:16322591..16325161-chr7:16326295..16328787,3	K562	blood:
21	chr7:16430102..16432686-chr7:16459442..16462077,2	MCF-7	breast:
22	chr7:16277063..16278675-chr7:16280781..16282945,2	K562	blood:
23	chr7:16277063..16278675-chr7:16280781..16282945,2	K562	blood:
24	chr7:16272248..16275452-chr7:16305157..16308165,4	K562	blood:
25	chr7:16348138..16350804-chr7:16362128..16364167,2	K562	blood:
26	chr7:16297813..16300771-chr7:16597599..16599779,2	K562	blood:
27	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
28	chr7:16402008..16404238-chr7:16406373..16408242,2	K562	blood:
29	chr7:16325178..16329293-chr7:16335508..16338297,3	K562	blood:
30	chr7:16427726..16430162-chr7:16435410..16438091,2	MCF-7	breast:
31	chr7:16319990..16321943-chr7:16331962..16333549,2	K562	blood:
32	chr7:16361874..16363592-chr7:16364507..16366476,2	K562	blood:
33	chr7:16271837..16274588-chr7:16275186..16279473,3	K562	blood:
34	chr7:16424852..16427430-chr7:16453245..16455678,2	K562	blood:
35	chr7:16332474..16335082-chr7:16341108..16343730,3	K562	blood:
36	chr7:16317326..16322342-chr7:16324212..16328939,6	K562	blood:
37	chr7:16333849..16337358-chr7:16346440..16349011,3	K562	blood:
38	chr7:16348686..16351561-chr7:16354430..16357375,3	K562	blood:
39	chr7:16431599..16434211-chr7:16436454..16438200,2	K562	blood:
40	chr7:16301506..16303412-chr7:20253971..20256529,2	K562	blood:
41	chr7:16307737..16311020-chr7:16684818..16687152,3	K562	blood:
42	chr7:16263097..16266771-chr7:16270720..16274586,3	K562	blood:
43	chr7:16262958..16265861-chr7:16270760..16273242,2	K562	blood:
44	chr7:16347978..16350861-chr7:16364873..16367398,2	K562	blood:
45	chr7:16301403..16303759-chr7:16503630..16506930,3	K562	blood:
46	chr7:16423939..16426216-chr7:16434967..16437061,2	K562	blood:
47	chr7:16277063..16278861-chr7:16280781..16282424,2	K562	blood:
48	chr7:16343653..16345575-chr7:16349935..16352190,3	K562	blood:
49	chr7:16355252..16356944-chr7:16359954..16363461,3	K562	blood:
50	chr7:16333997..16336395-chr7:16337300..16340770,3	K562	blood:

(count:38 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-1	chr7:16308482-16310229	NONHSAT119293
2	lnc-AC006035.2-1	chr7:16301524-16301721	NONHSAT119293
3	lnc-AC006035.2-1	chr7:16275527-16275604	NONHSAT119295
4	lnc-AC006035.2-1	chr7:16276934-16277035	NONHSAT119295
5	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119295
6	lnc-AC006035.2-1	chr7:16268049-16268246	ucscGeneNc_uc003stf_2
7	lnc-AC006035.2-1	chr7:16308482-16309502	NONHSAT119296
8	lnc-AC006035.2-1	chr7:16308482-16309502	NONHSAT119295
9	lnc-AC006035.2-1	chr7:16301524-16301721	ENSG00000229688
10	lnc-AC006035.2-1	chr7:16276934-16277038	NONHSAT119294
11	lnc-AC006035.2-1	chr7:16276934-16277031	ENSG00000229688.3
12	lnc-AC006035.2-1	chr7:16272377-16272461	ucscGeneNc_uc003stf_2
13	lnc-AC006035.2-1	chr7:16288360-16288362	NONHSAT119294
14	lnc-AC006035.2-1	chr7:16275527-16275604	ENSG00000229688
15	lnc-AC006035.2-1	chr7:16275527-16275604	NONHSAT119292
16	lnc-AC006035.2-1	chr7:16276934-16277038	NONHSAT119293
17	lnc-AC006035.2-1	chr7:16308482-16310229	NONHSAT119292
18	lnc-AC006035.2-1	chr7:16308482-16310229	NONHSAT119294
19	lnc-AC006035.2-1	chr7:16308482-16308872	ENSG00000229688
20	lnc-AC006035.2-1	chr7:16310630-16310643	NONHSAT119294
21	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119292
22	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119293
23	lnc-AC006035.2-1	chr7:16308482-16310229	ENSG00000229688
24	lnc-AC006035.2-1	chr7:16256009-16256194	ENSG00000229688.3
25	lnc-AC006035.2-1	chr7:16276934-16277035	ENSG00000229688.3
26	lnc-AC006035.2-1	chr7:16287510-16287714	ENSG00000229688.3
27	lnc-AC006035.2-1	chr7:16276934-16276977	NONHSAT119292
28	lnc-AC006035.2-1	chr7:16255958-16256194	ENSG00000229688.3
29	lnc-AC006035.2-1	chr7:16301527-16301721	NONHSAT119294
30	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119296
31	lnc-AC006035.2-1	chr7:16310142-16310229	ENSG00000241044
32	lnc-AC006035.2-1	chr7:16276934-16277038	ENSG00000229688
33	lnc-AC006035.2-1	chr7:16275007-16276752	ucscGeneNc_uc003stf_2
34	lnc-AC006035.2-1	chr7:16276934-16276977	ENSG00000229688
35	lnc-AC006035.2-1	chr7:16305852-16305936	NONHSAT119294
36	lnc-AC006035.2-1	chr7:16305852-16305936	ENSG00000229688
37	lnc-AC006035.2-1	chr7:16308874-16309215	ENSG00000241044
38	lnc-AC006035.2-1	chr7:16305852-16305936	ENSG00000229688

No data

Variant related genes	Relation type
ISPD-AS1	TF binding region
ISPD	TF binding region
ISPD-AS1	CpG island
ISPD	CpG island
ENSG00000229688	chromatin interactions
ENSG00000224683	chromatin interactions
ENSG00000171243	chromatin interactions
ENSG00000136261	chromatin interactions
ENSG00000106524	chromatin interactions
ENSG00000214960	chromatin interactions
SEC63	miRNA target sites
DIS3L	miRNA target sites
RSRC2	miRNA target sites
TTC8	miRNA target sites
CDKN1B	miRNA target sites
HAS3	miRNA target sites
GLTP	miRNA target sites
LMLN	miRNA target sites

Extended variants
information (count: 7559 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:7559 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549080490	chr7:16251996-16251997	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558608418	chr7:16252000-16252001	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547999147	chr7:16252006-16252007	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541411136	chr7:16252095-16252096	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182255970	chr7:16252109-16252110	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10272175	chr7:16252115-16252116	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542515636	chr7:16252130-16252131	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141164737	chr7:16252153-16252154	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566166144	chr7:16252160-16252161	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531113922	chr7:16252161-16252162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs17169351	chr7:16252167-16252168	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564969783	chr7:16252180-16252181	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532149826	chr7:16252181-16252182	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150723874	chr7:16252184-16252185	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187304692	chr7:16252225-16252226	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529714718	chr7:16252242-16252243	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548045937	chr7:16252269-16252270	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569645997	chr7:16252294-16252295	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536825809	chr7:16252359-16252360	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190954650	chr7:16252361-16252362	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs59899265	chr7:16252393-16252394	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570911872	chr7:16252399-16252400	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs17169353	chr7:16252416-16252417	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs180971659	chr7:16252456-16252457	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73291458	chr7:16252461-16252462	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542280743	chr7:16252462-16252463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557665238	chr7:16252468-16252469	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551326811	chr7:16252475-16252476	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146379941	chr7:16252520-16252521	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576054412	chr7:16252534-16252535	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs546411325	chr7:16252558-16252559	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564482413	chr7:16252569-16252570	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149906383	chr7:16252598-16252599	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565086749	chr7:16252614-16252615	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527815476	chr7:16252617-16252618	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528658774	chr7:16252632-16252633	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529642166	chr7:16252635-16252636	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147166480	chr7:16252645-16252646	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569609145	chr7:16252664-16252665	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530751761	chr7:16252669-16252670	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140550342	chr7:16252689-16252690	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185443070	chr7:16252699-16252700	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534835451	chr7:16252711-16252712	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10275907	chr7:16252720-16252721	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs190298271	chr7:16252753-16252754	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541505244	chr7:16252786-16252787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535846960	chr7:16252888-16252889	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182547156	chr7:16252937-16252938	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557432435	chr7:16252955-16252956	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144395811	chr7:16252968-16252969	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16241400-16256400	Weak transcription	Left Ventricle	heart
2	chr7:16250200-16275800	Weak transcription	Pancreas	Pancrea
3	chr7:16250600-16253400	Enhancers	Fetal Intestine Small	intestine
4	chr7:16251000-16253400	Enhancers	Fetal Intestine Large	intestine
5	chr7:16251800-16252000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr7:16251800-16252400	Enhancers	K562	blood
7	chr7:16251800-16252800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr7:16252000-16252200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:16252200-16252400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr7:16252400-16253000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:16253000-16253800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:16253800-16254000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:16254800-16255200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:16254800-16255400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:16255000-16255800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:16255200-16256400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:16255800-16256000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:16255800-16256000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:16255800-16256200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:16256000-16256200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:16262600-16263000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:16262600-16263400	Enhancers	Primary T cells from cord blood	blood
23	chr7:16262600-16263400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:16262600-16263800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:16262600-16264200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:16262600-16264400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr7:16262600-16264800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:16263000-16263400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:16263000-16264200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:16263200-16264200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr7:16263200-16264200	Enhancers	Dnd41	blood
32	chr7:16263400-16263800	Active TSS	Primary T cells from cord blood	blood
33	chr7:16263400-16264200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:16263600-16263800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:16263800-16264200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr7:16263800-16264200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:16263800-16264200	Active TSS	Osteobl	bone
38	chr7:16264200-16264400	Enhancers	Primary T cells from cord blood	blood
39	chr7:16269800-16271200	ZNF genes & repeats	Liver	Liver
40	chr7:16270000-16271200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:16270200-16271200	ZNF genes & repeats	Fetal Lung	lung
42	chr7:16270400-16270600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:16270400-16270800	ZNF genes & repeats	Left Ventricle	heart
44	chr7:16270400-16272200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr7:16270400-16272200	ZNF genes & repeats	Ovary	ovary
46	chr7:16270400-16272200	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr7:16270800-16273400	ZNF genes & repeats	K562	blood
48	chr7:16271200-16273200	Weak transcription	Fetal Lung	lung
49	chr7:16271600-16272200	ZNF genes & repeats	Liver	Liver
50	chr7:16272000-16272200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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