Variant report

Variant	nsv492308
Chromosome Location	chr17:38033039-38204458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5934)
CpG islands
(count:5192)
Chromatin interactive
region (count:257)
LncRNA
region (count:37)
Mature miRNA
region (count: 2)
miRNA target
sites (count:2)

(count:5934 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:38170002-38170301	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:38136767-38137176	K562	blood:	n/a	n/a
3	ARID3A	chr17:38117000-38117283	HepG2	liver:	n/a	n/a
4	ARID3A	chr17:38083768-38084043	K562	blood:	n/a	n/a
5	ARID3A	chr17:38085477-38085822	K562	blood:	n/a	n/a
6	ARID3A	chr17:38137465-38137480	HepG2	liver:	n/a	n/a
7	ARID3A	chr17:38136518-38137186	HepG2	liver:	n/a	n/a
8	ARID3A	chr17:38091953-38092045	HepG2	liver:	n/a	n/a
9	ARID3A	chr17:38083705-38084459	HepG2	liver:	n/a	n/a
10	ARID3A	chr17:38104864-38105095	HepG2	liver:	n/a	n/a
11	ARID3A	chr17:38195122-38195470	HepG2	liver:	n/a	n/a
12	ARID3A	chr17:38115191-38115577	HepG2	liver:	n/a	n/a
13	ARID3A	chr17:38183370-38183570	HepG2	liver:	n/a	n/a
14	ARID3A	chr17:38107127-38107370	HepG2	liver:	n/a	n/a
15	ARID3A	chr17:38115196-38115560	K562	blood:	n/a	n/a
16	ARID3A	chr17:38085972-38086323	HepG2	liver:	n/a	n/a
17	ARID3A	chr17:38060983-38061263	HepG2	liver:	n/a	n/a
18	ARID3A	chr17:38170015-38170311	K562	blood:	n/a	n/a
19	ARID3A	chr17:38059819-38060094	K562	blood:	n/a	n/a
20	ARID3A	chr17:38128503-38128866	K562	blood:	n/a	n/a
21	ARID3A	chr17:38083052-38083274	HepG2	liver:	n/a	n/a
22	ARID3A	chr17:38095840-38096063	HepG2	liver:	n/a	n/a
23	ARID3A	chr17:38094457-38094735	HepG2	liver:	n/a	n/a
24	ARID3A	chr17:38090631-38090943	HepG2	liver:	n/a	n/a
25	ARID3A	chr17:38161783-38162055	K562	blood:	n/a	n/a
26	ARID3A	chr17:38080421-38081000	HepG2	liver:	n/a	n/a
27	ATF1	chr17:38161739-38162141	K562	blood:	n/a	n/a
28	ATF1	chr17:38128537-38128825	K562	blood:	n/a	n/a
29	ATF1	chr17:38135777-38137197	K562	blood:	n/a	n/a
30	ATF1	chr17:38085338-38085868	K562	blood:	n/a	n/a
31	ATF1	chr17:38115237-38115545	K562	blood:	n/a	n/a
32	ATF1	chr17:38083674-38084169	K562	blood:	n/a	n/a
33	ATF1	chr17:38096329-38096618	K562	blood:	n/a	n/a
34	ATF1	chr17:38170000-38170306	K562	blood:	n/a	n/a
35	ATF2	chr17:38136193-38137237	H1-hESC	embryonic stem cell:	n/a	n/a
36	ATF2	chr17:38169978-38170368	GM12878	blood:	n/a	n/a
37	ATF2	chr17:38090305-38090619	GM12878	blood:	n/a	n/a
38	ATF2	chr17:38183167-38183552	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr17:38174724-38175211	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr17:38076660-38077038	GM12878	blood:	n/a	n/a
41	ATF2	chr17:38085280-38086049	GM12878	blood:	n/a	n/a
42	ATF2	chr17:38136389-38137352	GM12878	blood:	n/a	n/a
43	ATF2	chr17:38115136-38115613	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr17:38071868-38072193	GM12878	blood:	n/a	n/a
45	ATF2	chr17:38083749-38084365	H1-hESC	embryonic stem cell:	n/a	n/a
46	ATF2	chr17:38083660-38084154	GM12878	blood:	n/a	n/a
47	ATF2	chr17:38071709-38072235	GM12878	blood:	n/a	n/a
48	ATF2	chr17:38085334-38086021	GM12878	blood:	n/a	n/a
49	ATF2	chr17:38169913-38170298	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr17:38136455-38137308	H1-hESC	embryonic stem cell:	n/a	n/a

(count:5192 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38108850-38108900	HEK293	kidney:	embryo
2	chr17:38136923-38136973	Hepatocyte	liver:	n/a
3	chr17:38084428-38084478	RPTEC	kidney:	n/a
4	chr17:38081186-38081236	HEK293	kidney:	embryo
5	chr17:38120485-38120535	HCF	heart:	n/a
6	chr17:38109030-38109080	ECC-1	luminal epithelium:	n/a
7	chr17:38083691-38083741	CMK	blood:	n/a
8	chr17:38108850-38108900	HEK293	kidney:	embryo
9	chr17:38136923-38136973	Hepatocyte	liver:	n/a
10	chr17:38084428-38084478	RPTEC	kidney:	n/a
11	chr17:38081186-38081236	HEK293	kidney:	embryo
12	chr17:38120485-38120535	HCF	heart:	n/a
13	chr17:38109030-38109080	ECC-1	luminal epithelium:	n/a
14	chr17:38083691-38083741	CMK	blood:	n/a
15	chr17:38191472-38191522	CMK	blood:	n/a
16	chr17:38083354-38083404	AG09319	gingival:	n/a
17	chr17:38118588-38118638	HNPCEpiC	eye:	n/a
18	chr17:38075855-38075905	SAEC	small airway:	n/a
19	chr17:38074070-38074120	HCPEpiC	choroid plexus:	n/a
20	chr17:38096571-38096621	Hepatocyte	liver:	n/a
21	chr17:38083955-38084005	HNPCEpiC	eye:	n/a
22	chr17:38109030-38109080	HepG2	liver:	n/a
23	chr17:38183790-38183840	ovcar-3	ovarian:	n/a
24	chr17:38136779-38136829	HRPEpiC	eye:	n/a
25	chr17:38075648-38075698	HCT-116	colon:	n/a
26	chr17:38170906-38170956	U87	brain:	n/a
27	chr17:38176064-38176114	SK-N-SH_RA	brain:	n/a
28	chr17:38137399-38137449	GM12892	blood:	n/a
29	chr17:38170862-38170912	HCT-116	colon:	n/a
30	chr17:38136919-38136969	BE2_C	brain:	n/a
31	chr17:38137489-38137539	Jurkat	blood:	n/a
32	chr17:38182512-38182562	GM12891	blood:	n/a
33	chr17:38119330-38119380	Jurkat	blood:	n/a
34	chr17:38137097-38137147	K562	blood:	n/a
35	chr17:38075408-38075458	ECC-1	luminal epithelium:	n/a
36	chr17:38133323-38133373	HMEC	breast:	n/a
37	chr17:38083354-38083404	HCPEpiC	choroid plexus:	n/a
38	chr17:38075855-38075905	HAEpiC	amniotic membrane:	n/a
39	chr17:38137489-38137539	AG09309	skin:	n/a
40	chr17:38136738-38136788	SAEC	small airway:	n/a
41	chr17:38118574-38118624	Hela-S3	cervix:	n/a
42	chr17:38170900-38170950	SK-N-MC	brain:	n/a
43	chr17:38171697-38171747	HL-60	blood:	n/a
44	chr17:38084459-38084509	HRPEpiC	eye:	n/a
45	chr17:38167380-38167430	SK-N-MC	brain:	n/a
46	chr17:38118588-38118638	HUVEC	blood vessel:	n/a
47	chr17:38083406-38083456	NH-A	brain:	n/a
48	chr17:38109636-38109686	HRCEpiC	kidney:	n/a
49	chr17:38184257-38184307	HAEpiC	amniotic membrane:	n/a
50	chr17:38083788-38083838	LNCaP	prostate:	n/a

(count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr1:216898478..216901280-chr17:38145496..38147429,2	MCF-7	breast:
2	chr17:38127213..38131581-chr17:38135259..38139166,5	K562	blood:
3	chr17:38177907..38180041-chr17:38332919..38334626,2	MCF-7	breast:
4	chr17:38083081..38090987-chr17:38092901..38098446,8	K562	blood:
5	chr17:38169634..38170581-chr17:38182673..38183938,4	MCF-7	breast:
6	chr17:38186956..38189285-chr17:38277209..38280047,2	MCF-7	breast:
7	chr17:38175295..38180645-chr17:38181007..38185256,8	MCF-7	breast:
8	chr17:38152599..38155402-chr17:38158806..38161805,3	K562	blood:
9	chr17:38170609..38173071-chr17:38181273..38184131,2	MCF-7	breast:
10	chr17:38114921..38115855-chr17:38136365..38137597,9	K562	blood:
11	chr17:38108082..38110998-chr17:38277597..38279860,2	K562	blood:
12	chr17:38118447..38120839-chr17:38122541..38124477,2	MCF-7	breast:
13	chr17:38174842..38178903-chr17:38208625..38211251,3	K562	blood:
14	chr17:38197666..38199458-chr17:38209240..38211489,2	K562	blood:
15	chr17:38073305..38078163-chr17:38135913..38140017,5	K562	blood:
16	chr17:38101089..38105078-chr17:38105781..38110100,7	K562	blood:
17	chr17:38174715..38177590-chr17:38209751..38212777,3	K562	blood:
18	chr17:38107835..38110807-chr17:38134929..38137852,3	K562	blood:
19	chr17:38043921..38046303-chr17:38047983..38049521,2	K562	blood:
20	chr17:38082948..38085904-chr17:38100401..38102621,2	K562	blood:
21	chr17:37909855..37912536-chr17:38125394..38127110,2	MCF-7	breast:
22	chr17:38063849..38066832-chr17:38082215..38084527,2	MCF-7	breast:
23	chr17:38136187..38139299-chr17:38140015..38144342,5	K562	blood:
24	chr17:38107027..38109287-chr17:38138129..38139921,2	K562	blood:
25	chr17:37978424..37980112-chr17:38107868..38109558,2	K562	blood:
26	chr17:38191841..38193533-chr17:38193734..38195685,2	K562	blood:
27	chr17:38199660..38201170-chr17:38204610..38206450,2	K562	blood:
28	chr17:38102879..38104734-chr17:38106799..38109127,2	MCF-7	breast:
29	chr17:38149292..38151319-chr17:38159650..38161294,2	K562	blood:
30	chr17:38180102..38182541-chr17:38472880..38475215,2	MCF-7	breast:
31	chr17:37885255..37888241-chr17:38082917..38084897,2	K562	blood:
32	chr17:38142439..38144844-chr17:38145990..38148406,3	K562	blood:
33	chr17:38170609..38173071-chr17:38181273..38184131,2	MCF-7	breast:
34	chr17:38152976..38154813-chr17:38189662..38192619,2	K562	blood:
35	chr17:38141745..38144493-chr17:38173834..38176591,2	MCF-7	breast:
36	chr17:38191285..38191947-chr17:38347680..38348560,2	K562	blood:
37	chr17:38043921..38046303-chr17:38047983..38049521,2	K562	blood:
38	chr17:38143597..38146360-chr17:38172431..38175405,3	K562	blood:
39	chr17:38082705..38085668-chr17:38094969..38098446,5	K562	blood:
40	chr13:21714363..21714970-chr17:38109384..38110112,2	NB4	blood:
41	chr17:38079284..38081708-chr17:38107683..38109275,2	MCF-7	breast:
42	chr17:38189937..38192774-chr17:38333499..38335289,2	MCF-7	breast:
43	chr17:38027253..38029353-chr17:38058744..38061451,2	K562	blood:
44	chr17:38137253..38140627-chr17:38150200..38152697,4	MCF-7	breast:
45	chr17:38193086..38195422-chr17:38210837..38212580,2	K562	blood:
46	chr17:38198077..38199665-chr17:38218747..38220727,2	K562	blood:
47	chr17:38148349..38150160-chr17:38151852..38154932,3	K562	blood:
48	chr17:38059698..38061285-chr17:38079972..38081638,2	K562	blood:
49	chr17:38191841..38193533-chr17:38193734..38195685,2	K562	blood:
50	chr17:38175295..38180645-chr17:38181007..38185256,8	MCF-7	breast:

(count:37 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMB-2	chr17:38082049-38082592	NONHSAT053496
2	lnc-ORMDL3-2	chr17:38101833-38102109	NONHSAT053502
3	lnc-ZPBP2-3	chr17:38048407-38049819	NONHSAT053490
4	lnc-LRRC3C-1	chr17:38092055-38092147	ENSG00000264968.1
5	lnc-MED24-2	chr17:38165283-38165448	l_1437_chr17:38159627-38161700_breast
6	lnc-ZPBP2-4	chr17:38053546-38054937	NONHSAT053492
7	lnc-MED24-3	chr17:38147700-38148702	ucscGeneNc_uc002ibc_2
8	lnc-NR1D1-3	chr17:38175885-38175898	NONHSAT053507
9	lnc-LRRC3C-1	chr17:38085361-38085486	ENSG00000264968.1
10	lnc-MED24-1	chr17:38170491-38170612	ENSG00000265799.1
11	lnc-LRRC3C-1	chr17:38084120-38084154	ENSG00000264968.1
12	lnc-LRRC3C-1	chr17:38084097-38084154	ENSG00000264968.1
13	lnc-ORMDL3-1	chr17:38063214-38063752	NONHSAT053493
14	lnc-NR1D1-3	chr17:38177426-38177667	NONHSAT053507
15	lnc-MED24-2	chr17:38161378-38161923	l_1437_chr17:38159627-38161700_breast
16	lnc-CSF3-1	chr17:38194342-38194640	expReg_chr17_6267_+
17	lnc-ORMDL3-1	chr17:38062448-38062524	NONHSAT053493
18	lnc-GSDMB-1	chr17:38077296-38077570	NONHSAT053494
19	lnc-MED24-1	chr17:38168797-38169057	ENSG00000265799.1
20	lnc-ZPBP2-1	chr17:38043583-38043953	NONHSAT053488
21	lnc-LRRC3C-1	chr17:38095591-38095854	ENSG00000264968.1
22	lnc-GSDMB-1	chr17:38077929-38078002	NONHSAT053494
23	lnc-LRRC3C-2	chr17:38078108-38078537	NONHSAT053495
24	lnc-LRRC3C-1	chr17:38085361-38085608	ENSG00000264968.1
25	lnc-MED24-2	chr17:38159628-38160757	l_1437_chr17:38159627-38161700_breast
26	lnc-NR1D1-3	chr17:38176526-38176606	NONHSAT053507
27	lnc-LRRC3C-1	chr17:38092115-38092147	XLOC_012196
28	lnc-GSDMB-2	chr17:38083070-38083099	NONHSAT053496
29	lnc-LRRC3C-1	chr17:38084198-38086404	NONHSAT053500
30	lnc-NR1D1-3	chr17:38176038-38176263	NONHSAT053507
31	lnc-MED24-1	chr17:38170807-38170958	ENSG00000265799.1
32	lnc-LRRC3C-1	chr17:38095591-38096062	XLOC_012196
33	lnc-MED24-2	chr17:38165970-38166253	l_1437_chr17:38159627-38161700_breast
34	lnc-ZPBP2-2	chr17:38047173-38047735	NONHSAT053489
35	lnc-ZPBP2-4	chr17:38052400-38053460	NONHSAT053492
36	lnc-NR1D1-3	chr17:38176781-38176872	NONHSAT053507
37	lnc-LRRC3C-1	chr17:38090864-38090977	ENSG00000264968.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6884-5p	chr17:38182636-38182657	MIMAT0027668
hsa-miR-6884-3p	chr17:38182587-38182609	MIMAT0027669

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ORMDL3	hsa-miR-20a-5p	chr17:38078431-38078424
2	ORMDL3	hsa-miR-20a-5p	chr17:38078425-38078447

Variant related genes	Relation type
CSF3	TF binding region
PSMD3	TF binding region
ENSG00000265799	TF binding region
SNORD124	TF binding region
ENSG00000264968	TF binding region
LRRC3C	TF binding region
GSDMB	TF binding region
GSDMA	TF binding region
ORMDL3	TF binding region
MED24	TF binding region
CSF3	CpG island
PSMD3	CpG island
ENSG00000265799	CpG island
SNORD124	CpG island
ENSG00000264968	CpG island
LRRC3C	CpG island
GSDMB	CpG island
GSDMA	CpG island
ORMDL3	CpG island
MED24	CpG island
ENSG00000188895	chromatin interactions
ENSG00000126351	chromatin interactions
ENSG00000197448	chromatin interactions
ENSG00000108352	chromatin interactions
ENSG00000108342	chromatin interactions
ENSG00000108349	chromatin interactions
ENSG00000119685	chromatin interactions
ENSG00000150459	chromatin interactions
ENSG00000167258	chromatin interactions
ENSG00000186522	chromatin interactions
ENSG00000238793	chromatin interactions
ENSG00000107404	chromatin interactions
ENSG00000133935	chromatin interactions
ENSG00000141738	chromatin interactions
ENSG00000264968	chromatin interactions
ENSG00000265799	chromatin interactions
ENSG00000108344	chromatin interactions
ENSG00000265666	chromatin interactions
ENSG00000094804	chromatin interactions
ENSG00000008838	chromatin interactions
ENSG00000141744	chromatin interactions
ENSG00000131759	chromatin interactions
ENSG00000167914	chromatin interactions
ENSG00000141741	chromatin interactions
ENSG00000172057	chromatin interactions
ENSG00000073605	chromatin interactions
ENSG00000204913	chromatin interactions
ENSG00000126368	chromatin interactions

Extended variants
information (count: 6571 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:6571 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538426957	chr17:38043608-38043609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs564589149	chr17:38043614-38043615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs573284290	chr17:38043615-38043616	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs540743030	chr17:38043623-38043624	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs12936409	chr17:38043649-38043650	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs376553743	chr17:38043683-38043684	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs537524900	chr17:38043703-38043704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551246979	chr17:38043707-38043708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs188196173	chr17:38043743-38043744	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs147329292	chr17:38043785-38043786	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs533554478	chr17:38043878-38043879	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs183100316	chr17:38043898-38043899	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs188384305	chr17:38043924-38043925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs190004309	chr17:38045264-38045265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556565515	chr17:38045288-38045289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181713505	chr17:38045302-38045303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545332203	chr17:38045324-38045325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558199236	chr17:38045398-38045399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560889909	chr17:38045491-38045492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527872704	chr17:38045530-38045531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543241837	chr17:38045558-38045559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376874667	chr17:38045562-38045563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528927911	chr17:38045605-38045606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12103884	chr17:38045725-38045726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs562102683	chr17:38045735-38045736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534177340	chr17:38045743-38045744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74345389	chr17:38045852-38045853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186984029	chr17:38045888-38045889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373654048	chr17:38045919-38045920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574268054	chr17:38045964-38045965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528719329	chr17:38045996-38045997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566797874	chr17:38045999-38046000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533730644	chr17:38046040-38046041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190736229	chr17:38046056-38046057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567486645	chr17:38046067-38046068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578033753	chr17:38046079-38046080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376095740	chr17:38046111-38046112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200534111	chr17:38046157-38046158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374566446	chr17:38046191-38046192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368342113	chr17:38046251-38046252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556699814	chr17:38046266-38046267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183337081	chr17:38046275-38046276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140383852	chr17:38046320-38046321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145506631	chr17:38046443-38046444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572727198	chr17:38046505-38046506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551377119	chr17:38046519-38046520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571644176	chr17:38046864-38046865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542973677	chr17:38046927-38046928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561110898	chr17:38046951-38046952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537035934	chr17:38047060-38047061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
HIV/AIDS	18360285	CNVD
Systemic lupus erythematosus	19287148	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
HIV/AIDS	17008540	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:5671 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38045200-38045600	Enhancers	Duodenum Mucosa	Duodenum
2	chr17:38045400-38046000	Enhancers	Liver	Liver
3	chr17:38045400-38046200	Enhancers	Fetal Intestine Large	intestine
4	chr17:38046000-38059800	Weak transcription	Liver	Liver
5	chr17:38046600-38047400	Enhancers	Primary B cells from peripheral blood	blood
6	chr17:38046600-38047600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr17:38047200-38047600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr17:38047400-38059200	Weak transcription	Primary T cells from cord blood	blood
9	chr17:38049000-38049200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:38049000-38050200	Weak transcription	Primary B cells from cord blood	blood
11	chr17:38049200-38059800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:38049200-38075400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:38049800-38052600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr17:38050200-38051600	Enhancers	Primary B cells from cord blood	blood
15	chr17:38050800-38051000	Enhancers	Thymus	Thymus
16	chr17:38050800-38051400	Enhancers	Primary hematopoietic stem cells	blood
17	chr17:38050800-38051400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:38050800-38051400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:38050800-38051600	Enhancers	Fetal Thymus	thymus
20	chr17:38050800-38051800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr17:38050800-38052000	Enhancers	Primary B cells from peripheral blood	blood
22	chr17:38051000-38051200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr17:38051000-38051200	Bivalent Enhancer	HUVEC	blood vessel
24	chr17:38051000-38051400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr17:38051000-38051400	Enhancers	GM12878-XiMat	blood
26	chr17:38051000-38051600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:38051000-38051600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:38051000-38059000	Weak transcription	Thymus	Thymus
29	chr17:38051200-38051400	Enhancers	Duodenum Mucosa	Duodenum
30	chr17:38051200-38059400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr17:38051400-38059400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:38051400-38059800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:38051600-38059000	Weak transcription	Fetal Thymus	thymus
34	chr17:38051600-38059600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:38051800-38052600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr17:38052000-38059800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr17:38052400-38059400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:38052600-38052800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr17:38052600-38074200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr17:38052800-38053000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:38052800-38058800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr17:38053000-38061200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:38053200-38061000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr17:38054200-38057600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr17:38055000-38055600	Enhancers	Placenta	Placenta
46	chr17:38055400-38059200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr17:38055600-38056000	Weak transcription	Placenta	Placenta
48	chr17:38055600-38077400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:38055800-38059800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:38056000-38056200	Enhancers	Placenta	Placenta

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