Variant report

Variant	nsv537819
Chromosome Location	chr5:98253348-98299646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1412)
CpG islands
(count:673)
Chromatin interactive
region (count:79)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1412 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:98264508-98264681	K562	blood:	n/a	n/a
2	ARID3A	chr5:98299396-98299868	K562	blood:	n/a	n/a
3	ARID3A	chr5:98264539-98266038	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:98274132-98274465	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:98290120-98290843	K562	blood:	n/a	n/a
6	ARID3A	chr5:98295593-98295999	K562	blood:	n/a	n/a
7	ARID3A	chr5:98264908-98265939	K562	blood:	n/a	n/a
8	ARID3A	chr5:98297759-98298007	K562	blood:	n/a	n/a
9	ARID3A	chr5:98266535-98267028	K562	blood:	n/a	n/a
10	ATF1	chr5:98266148-98266224	K562	blood:	n/a	n/a
11	ATF1	chr5:98299410-98299943	K562	blood:	n/a	n/a
12	ATF1	chr5:98264410-98265650	K562	blood:	n/a	chr5:98264661-98264675
13	ATF1	chr5:98281844-98282249	K562	blood:	n/a	n/a
14	ATF2	chr5:98268935-98269701	GM12878	blood:	n/a	n/a
15	ATF2	chr5:98264198-98265765	GM12878	blood:	n/a	chr5:98264661-98264675
16	ATF2	chr5:98268996-98269649	GM12878	blood:	n/a	n/a
17	ATF2	chr5:98264751-98265755	GM12878	blood:	n/a	n/a
18	ATF2	chr5:98262812-98263803	GM12878	blood:	n/a	chr5:98262913-98262920
19	ATF2	chr5:98264566-98264936	H1-hESC	embryonic stem cell:	n/a	chr5:98264661-98264675
20	ATF3	chr5:98264740-98265103	A549	lung:	n/a	chr5:98264815-98264824
21	ATF3	chr5:98299354-98299673	K562	blood:	n/a	n/a
22	ATF3	chr5:98264757-98264991	K562	blood:	n/a	chr5:98264815-98264824
23	ATF3	chr5:98265063-98265645	K562	blood:	n/a	n/a
24	BACH1	chr5:98264397-98265295	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr5:98287251-98287327	K562	blood:	n/a	n/a
26	BACH1	chr5:98266640-98266971	K562	blood:	n/a	n/a
27	BACH1	chr5:98264418-98264580	K562	blood:	n/a	n/a
28	BACH1	chr5:98289854-98289864	K562	blood:	n/a	n/a
29	BACH1	chr5:98261371-98261719	K562	blood:	n/a	n/a
30	BACH1	chr5:98261416-98261450	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr5:98299497-98299792	K562	blood:	n/a	n/a
32	BATF	chr5:98265083-98265535	GM12878	blood:	n/a	n/a
33	BCL11A	chr5:98298812-98299061	H1-hESC	embryonic stem cell:	n/a	n/a
34	BCL11A	chr5:98265087-98265512	GM12878	blood:	n/a	chr5:98265227-98265240
35	BCL11A	chr5:98265136-98265540	GM12878	blood:	n/a	chr5:98265227-98265240
36	BCL3	chr5:98264142-98265493	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827
37	BCL3	chr5:98264165-98264714	A549	lung:	n/a	chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408
38	BCL3	chr5:98264764-98265777	A549	lung:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
39	BCL3	chr5:98264206-98264740	A549	lung:	n/a	chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408
40	BCL3	chr5:98264737-98265602	A549	lung:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
41	BCLAF1	chr5:98262785-98263739	GM12878	blood:	n/a	n/a
42	BCLAF1	chr5:98263979-98265726	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264044-98264057 chr5:98264224-98264233 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827
43	BCLAF1	chr5:98264244-98265731	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827
44	BCLAF1	chr5:98264435-98265694	K562	blood:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
45	BCLAF1	chr5:98262860-98263852	GM12878	blood:	n/a	n/a
46	BHLHE40	chr5:98290121-98290794	K562	blood:	n/a	n/a
47	BHLHE40	chr5:98263788-98264127	HepG2	liver:	n/a	n/a
48	BHLHE40	chr5:98281004-98281109	K562	blood:	n/a	n/a
49	BHLHE40	chr5:98266197-98266471	GM12878	blood:	n/a	n/a
50	BHLHE40	chr5:98269150-98269850	GM12878	blood:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:98269394-98269444	H1-hESC	embryonic stem cell:	embryo
2	chr5:98265264-98265314	PFSK-1	brain:	n/a
3	chr5:98269394-98269444	H1-hESC	embryonic stem cell:	embryo
4	chr5:98265264-98265314	PFSK-1	brain:	n/a
5	chr5:98265264-98265314	AoSMC	blood vessel:	n/a
6	chr5:98265530-98265580	SK-N-SH_RA	brain:	n/a
7	chr5:98263747-98263797	HRE	kidney:	n/a
8	chr5:98269394-98269444	LNCaP	prostate:	n/a
9	chr5:98264283-98264333	AG10803	skin:	n/a
10	chr5:98264283-98264333	BJ	skin:	n/a
11	chr5:98269394-98269444	NHDF-neo	bronchial:	n/a
12	chr5:98260405-98260455	NHBE	bronchial:	n/a
13	chr5:98299078-98299128	BJ	skin:	n/a
14	chr5:98299078-98299128	SK-N-SH_RA	brain:	n/a
15	chr5:98263013-98263063	AG09309	skin:	n/a
16	chr5:98260405-98260455	AG09309	skin:	n/a
17	chr5:98264478-98264528	Hepatocyte	liver:	n/a
18	chr5:98264478-98264528	HMEC	breast:	n/a
19	chr5:98299078-98299128	AG04450	lung:	fetal
20	chr5:98299078-98299128	HepG2	liver:	n/a
21	chr5:98265264-98265314	GM12892	blood:	n/a
22	chr5:98265264-98265314	T-47D	breast:	n/a
23	chr5:98265264-98265314	AG04450	lung:	fetal
24	chr5:98269394-98269444	AG10803	skin:	n/a
25	chr5:98264283-98264333	IMR90	lung:	fetal
26	chr5:98263747-98263797	Jurkat	blood:	n/a
27	chr5:98263747-98263797	PFSK-1	brain:	n/a
28	chr5:98265264-98265314	BJ	skin:	n/a
29	chr5:98265530-98265580	NT2-D1	testis:	n/a
30	chr5:98263417-98263467	AG04449	skin:	fetal
31	chr5:98299078-98299128	HIPEpiC	eye:	n/a
32	chr5:98264283-98264333	GM06990	blood:	n/a
33	chr5:98265530-98265580	Hepatocyte	liver:	n/a
34	chr5:98265530-98265580	BJ	skin:	n/a
35	chr5:98263417-98263467	IMR90	lung:	fetal
36	chr5:98269394-98269444	SK-N-SH_RA	brain:	n/a
37	chr5:98263417-98263467	U87	brain:	n/a
38	chr5:98265264-98265314	HAEpiC	amniotic membrane:	n/a
39	chr5:98264283-98264333	U87	brain:	n/a
40	chr5:98263747-98263797	HPAEpiC	pulmonary alveolar:	n/a
41	chr5:98299078-98299128	HUVEC	blood vessel:	n/a
42	chr5:98263747-98263797	HMEC	breast:	n/a
43	chr5:98299078-98299128	A549	lung:	n/a
44	chr5:98265241-98265291	AG09309	skin:	n/a
45	chr5:98263747-98263797	GM12878	blood:	n/a
46	chr5:98264283-98264333	MCF-7	breast:	n/a
47	chr5:98264478-98264528	T-47D	breast:	n/a
48	chr5:98264478-98264528	MCF10A-Er-Src	breast:	n/a
49	chr5:98265530-98265580	AG09319	gingival:	n/a
50	chr5:98263747-98263797	MCF-7	breast:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:98272097..98275128-chr5:98275593..98280478,6	MCF-7	breast:
2	chr5:98220809..98224769-chr5:98261722..98266325,5	K562	blood:
3	chr5:98263888..98266845-chr5:98284652..98287540,3	K562	blood:
4	chr5:98258735..98261522-chr5:98261609..98263203,2	MCF-7	breast:
5	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:
6	chr5:98261995..98270397-chr5:98280624..98292060,15	K562	blood:
7	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:
8	chr5:98266485..98269344-chr6:26198000..26199535,2	MCF-7	breast:
9	chr5:98297682..98299622-chr5:98302405..98305273,3	K562	blood:
10	chr5:43483467..43484074-chr5:98264949..98265508,2	Hela-S3	cervix:
11	chr5:98264846..98265427-chr6:26056184..26056952,2	Hela-S3	cervix:
12	chr3:48487968..48488563-chr5:98263988..98264982,2	Hela-S3	cervix:
13	chr5:98274709..98276765-chr5:98282972..98284478,2	K562	blood:
14	chr5:98262437..98267686-chr5:98287585..98292205,9	K562	blood:
15	chr5:98263097..98266968-chr5:98281665..98283543,3	K562	blood:
16	chr5:98261995..98270397-chr5:98280624..98292060,15	K562	blood:
17	chr17:46985561..46986168-chr5:98264688..98265508,2	Hela-S3	cervix:
18	chr5:98275105..98276792-chr5:98280634..98283981,3	K562	blood:
19	chr3:49157716..49158699-chr5:98264536..98265045,2	HCT-116	colon:
20	chr5:98292901..98295067-chr5:98352005..98354647,2	K562	blood:
21	chr5:98254296..98256757-chr5:98393861..98395478,2	K562	blood:
22	chr5:98285322..98288354-chr5:98290192..98292077,3	K562	blood:
23	chr5:98250278..98252358-chr5:98294298..98296152,2	K562	blood:
24	chr5:98265097..98266791-chr5:98309384..98311683,2	K562	blood:
25	chr5:98276177..98277799-chr5:98286832..98289590,2	MCF-7	breast:
26	chr5:98264586..98265128-chr6:109416336..109416882,2	Hela-S3	cervix:
27	chr5:98290036..98292001-chr5:98294235..98296369,4	K562	blood:
28	chr5:98265027..98268409-chr5:98365166..98367986,4	K562	blood:
29	chr5:90674940..90677586-chr5:98263946..98266440,2	K562	blood:
30	chr13:107219962..107220504-chr5:98264951..98265593,2	Hela-S3	cervix:
31	chr5:98286475..98288503-chr5:98329447..98332320,2	MCF-7	breast:
32	chr5:98249580..98254954-chr5:98261706..98266693,12	MCF-7	breast:
33	chr5:98263064..98266794-chr5:98295400..98300838,7	K562	blood:
34	chr5:98262886..98265417-chr5:98293369..98295654,3	K562	blood:
35	chr5:98264226..98265182-chr7:66093354..66094059,2	Hela-S3	cervix:
36	chr5:98263361..98265726-chr5:98284004..98286158,2	MCF-7	breast:
37	chr5:98263389..98266145-chr5:98295951..98300561,6	K562	blood:
38	chr5:98252569..98255536-chr5:98389385..98390974,2	K562	blood:
39	chr5:98204205..98207501-chr5:98263457..98266267,3	MCF-7	breast:
40	chr5:98274709..98276765-chr5:98282972..98284478,2	K562	blood:
41	chr5:98262538..98264376-chr5:98385068..98386574,2	K562	blood:
42	chr10:88853918..88854648-chr5:98264535..98265304,3	Hela-S3	cervix:
43	chr15:83478349..83478996-chr5:98264221..98265198,2	Hela-S3	cervix:
44	chr5:98266316..98268754-chr5:98386981..98389928,2	MCF-7	breast:
45	chr5:98263406..98266421-chr5:98277549..98281338,5	MCF-7	breast:
46	chr5:98237133..98240076-chr5:98262664..98264455,2	K562	blood:
47	chr5:96142600..96144164-chr5:98264927..98267832,2	K562	blood:
48	chr5:98276533..98278644-chr5:98288923..98290589,2	K562	blood:
49	chr5:98289511..98291759-chr5:98293576..98296217,2	K562	blood:
50	chr5:98286684..98288719-chrX:40290697..40292204,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-1	chr5:98266027-98266064	NONHSAT102972
2	lnc-RGMB-1	chr5:98264875-98265015	ENSG00000248489.1
3	lnc-RGMB-1	chr5:98264838-98266713	NONHSAT102967
4	lnc-RGMB-1	chr5:98264925-98265427	NONHSAT102971
5	lnc-RGMB-1	chr5:98265815-98265924	NONHSAT102972
6	lnc-RGMB-1	chr5:98264884-98265015	NONHSAT102970
7	lnc-RGMB-1	chr5:98297147-98297248	NONHSAT102971
8	lnc-RGMB-1	chr5:98264861-98270036	NONHSAT102968
9	lnc-RGMB-1	chr5:98265713-98265745	NONHSAT102972
10	lnc-RGMB-1	chr5:98265801-98266772	NONHSAT102970
11	lnc-CHD1-3	chr5:98292194-98292613	expReg_chr5_5532_-
12	lnc-RGMB-1	chr5:98270246-98271477	NONHSAT102972

No data

Variant related genes	Relation type
ENSG00000248489	TF binding region
CHD1	TF binding region
ENSG00000241597	TF binding region
ENSG00000200351	TF binding region
ENSG00000248489	CpG island
CHD1	CpG island
ENSG00000241597	CpG island
ENSG00000200351	CpG island
ENSG00000197409	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000115539	chromatin interactions
ENSG00000273015	chromatin interactions
ENSG00000243335	chromatin interactions
ENSG00000148672	chromatin interactions
ENSG00000103769	chromatin interactions
ENSG00000200351	chromatin interactions
ENSG00000071243	chromatin interactions
ENSG00000172534	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000153922	chromatin interactions
ENSG00000241597	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000164307	chromatin interactions
ENSG00000248489	chromatin interactions
ENSG00000159202	chromatin interactions
ENSG00000113369	chromatin interactions
ENSG00000172046	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000177854	chromatin interactions
ENSG00000134884	chromatin interactions
ENSG00000115129	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000183137	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000122376	chromatin interactions
ENSG00000123144	chromatin interactions
ENSG00000249492	chromatin interactions

Extended variants
information (count: 1715 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1715 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560135142	chr5:98253364-98253365	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530141660	chr5:98253367-98253368	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112216748	chr5:98253378-98253379	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546791135	chr5:98253499-98253500	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527370843	chr5:98253520-98253521	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs113866981	chr5:98253522-98253523	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564192360	chr5:98253556-98253557	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375342483	chr5:98253611-98253612	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73776032	chr5:98253641-98253642	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs13155831	chr5:98253670-98253671	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192212960	chr5:98253695-98253696	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568689619	chr5:98253739-98253740	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34461137	chr5:98253759-98253760	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529604383	chr5:98253763-98253764	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs11301847	chr5:98253765-98253766	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs534027252	chr5:98253809-98253810	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547958985	chr5:98253825-98253826	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566174065	chr5:98253831-98253832	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs180968878	chr5:98253840-98253841	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113446541	chr5:98253910-98253911	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs569832550	chr5:98253919-98253920	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs569910130	chr5:98253953-98253954	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191264	chr5:98253969-98253970	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2455426	chr5:98253971-98253972	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs555482374	chr5:98253981-98253982	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574674075	chr5:98253984-98253985	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535423936	chr5:98253996-98253997	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553800269	chr5:98254010-98254011	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189713338	chr5:98254015-98254016	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs182709726	chr5:98254029-98254030	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376095344	chr5:98254032-98254033	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs546036069	chr5:98254041-98254042	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs188254055	chr5:98254053-98254054	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs564129476	chr5:98254110-98254111	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs191750040	chr5:98254142-98254143	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs114699149	chr5:98254164-98254165	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576263341	chr5:98254202-98254203	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561566687	chr5:98254240-98254241	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs150991	chr5:98254244-98254245	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs547799340	chr5:98254308-98254309	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs183605798	chr5:98254331-98254332	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs161748	chr5:98254377-98254378	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551569944	chr5:98254385-98254386	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200648003	chr5:98254397-98254398	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs76802401	chr5:98254457-98254458	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs77541156	chr5:98254459-98254460	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537196412	chr5:98254465-98254466	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs56329651	chr5:98254473-98254474	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
49	rs377628623	chr5:98254474-98254475	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs188892400	chr5:98254491-98254492	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	20837533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1671 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98200000-98263000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:98215000-98263000	Weak transcription	Esophagus	oesophagus
3	chr5:98225800-98258400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:98228200-98259200	Weak transcription	Spleen	Spleen
5	chr5:98228400-98259200	Weak transcription	Gastric	stomach
6	chr5:98228400-98259400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:98228400-98263000	Weak transcription	Aorta	Aorta
8	chr5:98232000-98254200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:98232000-98258200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:98232000-98259200	Weak transcription	Pancreas	Pancrea
11	chr5:98235000-98262600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:98235200-98261600	Weak transcription	Fetal Kidney	kidney
13	chr5:98235400-98262600	Weak transcription	Fetal Brain Male	brain
14	chr5:98236000-98256800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:98236400-98256600	Weak transcription	Lung	lung
16	chr5:98236400-98258400	Weak transcription	Brain Germinal Matrix	brain
17	chr5:98236400-98263200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:98236600-98257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:98236600-98259000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:98236600-98261000	Weak transcription	Small Intestine	intestine
21	chr5:98236600-98261600	Weak transcription	Fetal Brain Female	brain
22	chr5:98236600-98263000	Weak transcription	Ovary	ovary
23	chr5:98236800-98253600	Weak transcription	Left Ventricle	heart
24	chr5:98236800-98254000	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:98236800-98256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:98236800-98263000	Weak transcription	Brain Substantia Nigra	brain
27	chr5:98237000-98256000	Weak transcription	HSMMtube	muscle
28	chr5:98237000-98258600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:98237000-98259200	Weak transcription	Colonic Mucosa	Colon
30	chr5:98240200-98263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:98240600-98254600	Weak transcription	HMEC	breast
32	chr5:98240800-98254200	Weak transcription	Fetal Lung	lung
33	chr5:98240800-98255000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr5:98240800-98263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:98242000-98255400	Weak transcription	Primary B cells from cord blood	blood
36	chr5:98243200-98255400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:98243400-98254200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr5:98244400-98258400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:98245600-98256000	Weak transcription	NHDF-Ad	bronchial
40	chr5:98245800-98254800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:98247200-98254800	Weak transcription	HSMM	muscle
42	chr5:98247400-98256200	Weak transcription	HUVEC	blood vessel
43	chr5:98247400-98256800	Weak transcription	Fetal Heart	heart
44	chr5:98247400-98256800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:98247400-98258400	Weak transcription	Right Ventricle	heart
46	chr5:98247400-98258800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:98247400-98259600	Weak transcription	Brain Anterior Caudate	brain
48	chr5:98247400-98262600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:98247600-98254600	Weak transcription	NH-A	brain
50	chr5:98247600-98256800	Weak transcription	Brain Angular Gyrus	brain

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