Variant report

Variant	esv1819636
Chromosome Location	chr4:8622394-9370511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4862)
CpG islands
(count:2992)
Chromatin interactive
region (count:129)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4862 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:9154835-9154872	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:9155684-9155703	HepG2	liver:	n/a	n/a
3	ATF1	chr4:9154438-9155046	K562	blood:	n/a	n/a
4	ATF3	chr4:9154337-9154466	K562	blood:	n/a	n/a
5	ATF3	chr4:8854977-8855363	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr4:8855081-8855244	K562	blood:	n/a	n/a
7	ATF3	chr4:8854995-8855309	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:8894725-8895016	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:8862941-8863709	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr4:8875855-8875971	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr4:8873787-8873987	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:8861399-8861529	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr4:8857632-8857756	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr4:8857031-8857091	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:8689946-8690325	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:8893693-8893726	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:8874989-8875170	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:8686570-8686574	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr4:8862268-8862627	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr4:8869917-8869990	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:8858777-8858889	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr4:8859610-8859971	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr4:9069049-9069339	GM12878	blood:	n/a	n/a
24	BATF	chr4:9172276-9172654	GM12878	blood:	n/a	n/a
25	BATF	chr4:9125270-9125602	GM12878	blood:	n/a	n/a
26	BATF	chr4:9050852-9051138	GM12878	blood:	n/a	n/a
27	BATF	chr4:9093143-9093398	GM12878	blood:	n/a	n/a
28	BATF	chr4:8962972-8963416	GM12878	blood:	n/a	n/a
29	BATF	chr4:9027584-9027898	GM12878	blood:	n/a	n/a
30	BATF	chr4:9155872-9156200	GM12878	blood:	n/a	n/a
31	BATF	chr4:9027943-9028103	GM12878	blood:	n/a	n/a
32	BATF	chr4:9172306-9172654	GM12878	blood:	n/a	n/a
33	BATF	chr4:9075036-9075407	GM12878	blood:	n/a	n/a
34	BATF	chr4:9016052-9016284	GM12878	blood:	n/a	chr4:9016178-9016189
35	BATF	chr4:9078511-9078942	GM12878	blood:	n/a	n/a
36	BATF	chr4:8911262-8911579	GM12878	blood:	n/a	n/a
37	BATF	chr4:9167836-9168045	GM12878	blood:	n/a	n/a
38	BATF	chr4:8947322-8947571	GM12878	blood:	n/a	chr4:8947446-8947457
39	BATF	chr4:9050779-9051110	GM12878	blood:	n/a	n/a
40	BATF	chr4:9027580-9027939	GM12878	blood:	n/a	n/a
41	BATF	chr4:9155377-9155748	GM12878	blood:	n/a	n/a
42	BATF	chr4:8977979-8978183	GM12878	blood:	n/a	n/a
43	BATF	chr4:9160170-9160447	GM12878	blood:	n/a	n/a
44	BATF	chr4:8877064-8877233	GM12878	blood:	n/a	chr4:8877125-8877134
45	BATF	chr4:9078532-9078952	GM12878	blood:	n/a	n/a
46	BATF	chr4:9075010-9075406	GM12878	blood:	n/a	n/a
47	BATF	chr4:9074518-9074764	GM12878	blood:	n/a	n/a
48	BATF	chr4:9167731-9168069	GM12878	blood:	n/a	n/a
49	BATF	chr4:9155849-9156145	GM12878	blood:	n/a	n/a
50	BATF	chr4:8947373-8947544	GM12878	blood:	n/a	chr4:8947446-8947457

(count:2992 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8645949-8645999	GM12878	blood:	n/a
2	chr4:8651092-8651142	MCF10A-Er-Src	breast:	n/a
3	chr4:8689975-8690025	GM12892	blood:	n/a
4	chr4:8645949-8645999	GM12878	blood:	n/a
5	chr4:8651092-8651142	MCF10A-Er-Src	breast:	n/a
6	chr4:8689975-8690025	GM12892	blood:	n/a
7	chr4:8623002-8623052	BJ	skin:	n/a
8	chr4:9355351-9355401	HIPEpiC	eye:	n/a
9	chr4:8643218-8643268	AG04450	lung:	fetal
10	chr4:8702397-8702447	U87	brain:	n/a
11	chr4:8642776-8642826	H1-hESC	embryonic stem cell:	embryo
12	chr4:8692828-8692878	U87	brain:	n/a
13	chr4:8648739-8648789	HRE	kidney:	n/a
14	chr4:8702279-8702329	T-47D	breast:	n/a
15	chr4:9352827-9352877	PANC-1	pancreas:	n/a
16	chr4:8643218-8643268	SAEC	small airway:	n/a
17	chr4:8689975-8690025	NH-A	brain:	n/a
18	chr4:8645949-8645999	BJ	skin:	n/a
19	chr4:9355372-9355422	BJ	skin:	n/a
20	chr4:8651617-8651667	NT2-D1	testis:	n/a
21	chr4:8646957-8647007	PFSK-1	brain:	n/a
22	chr4:8687039-8687089	NHDF-neo	bronchial:	n/a
23	chr4:8692854-8692904	HNPCEpiC	eye:	n/a
24	chr4:8645833-8645883	NH-A	brain:	n/a
25	chr4:8692935-8692985	GM12892	blood:	n/a
26	chr4:8692854-8692904	SKMC	muscle:	n/a
27	chr4:8692854-8692904	A549	lung:	n/a
28	chr4:8651617-8651667	AG04449	skin:	fetal
29	chr4:8687039-8687089	IMR90	lung:	fetal
30	chr4:8692935-8692985	NH-A	brain:	n/a
31	chr4:8651225-8651275	AG04450	lung:	fetal
32	chr4:8639337-8639387	GM06990	blood:	n/a
33	chr4:8642369-8642419	HRPEpiC	eye:	n/a
34	chr4:9352827-9352877	GM12878	blood:	n/a
35	chr4:8642306-8642356	HCT-116	colon:	n/a
36	chr4:8643957-8644007	GM12878	blood:	n/a
37	chr4:9355351-9355401	K562	blood:	n/a
38	chr4:8651855-8651905	GM12892	blood:	n/a
39	chr4:8643813-8643863	SK-N-SH	brain:	n/a
40	chr4:8646016-8646066	GM12892	blood:	n/a
41	chr4:8628157-8628207	U87	brain:	n/a
42	chr4:8642306-8642356	Jurkat	blood:	n/a
43	chr4:8702535-8702585	IMR90	lung:	fetal
44	chr4:8651092-8651142	BJ	skin:	n/a
45	chr4:8651451-8651501	BE2_C	brain:	n/a
46	chr4:8692935-8692985	PANC-1	pancreas:	n/a
47	chr4:8648164-8648214	GM19239	blood:	n/a
48	chr4:8693216-8693266	AoSMC	blood vessel:	n/a
49	chr4:8640896-8640946	HUVEC	blood vessel:	n/a
50	chr4:8643968-8644018	RPTEC	kidney:	n/a

(count:129 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:8657922..8660434-chr4:8662931..8664931,2	K562	blood:
2	chr4:8442251..8443878-chr4:8907020..8909362,2	MCF-7	breast:
3	chr4:8649831..8652641-chr4:8656604..8658458,2	K562	blood:
4	chr4:8657843..8659725-chr4:8665360..8667377,2	MCF-7	breast:
5	chr4:8840585..8842357-chr4:8849488..8852071,2	MCF-7	breast:
6	chr4:8854005..8855600-chr4:8858236..8860977,2	MCF-7	breast:
7	chr4:8840268..8842596-chr4:8847457..8849928,2	MCF-7	breast:
8	chr4:8743350..8745103-chr4:8747922..8749875,2	MCF-7	breast:
9	chr4:8987440..8989215-chr4:9123032..9125625,2	MCF-7	breast:
10	chr4:8689272..8690551-chr4:8887541..8888216,4	MCF-7	breast:
11	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:
12	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
13	chr4:8641181..8642723-chr4:8648783..8650662,2	MCF-7	breast:
14	chr4:8887461..8890172-chr4:8891389..8893910,2	MCF-7	breast:
15	chr4:8852857..8854871-chr4:8860134..8862966,2	K562	blood:
16	chr4:8649551..8650162-chr4:8919707..8920368,2	MCF-7	breast:
17	chr4:8850333..8852547-chr4:8858670..8860391,2	MCF-7	breast:
18	chr4:8776407..8778118-chr4:8779629..8781870,2	MCF-7	breast:
19	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
20	chr4:8747645..8749434-chr4:8754889..8757407,2	MCF-7	breast:
21	chr4:8821716..8822276-chr4:8919332..8919908,2	MCF-7	breast:
22	chr4:8595963..8596810-chr4:8919438..8920172,2	MCF-7	breast:
23	chr4:8609002..8610016-chr4:8919155..8920078,6	MCF-7	breast:
24	chr4:8785973..8787809-chr4:8789851..8791798,2	MCF-7	breast:
25	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
26	chr4:8646299..8649140-chr4:8652570..8655167,2	K562	blood:
27	chr4:8617932..8619527-chr4:8918338..8920672,2	MCF-7	breast:
28	chr4:8643957..8646441-chr4:8648684..8651421,2	MCF-7	breast:
29	chr4:8649551..8650162-chr4:8919707..8920368,2	MCF-7	breast:
30	chr4:8776407..8778118-chr4:8779629..8781870,2	MCF-7	breast:
31	chr4:8827560..8829523-chr4:8830683..8833064,2	K562	blood:
32	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
33	chr4:8785973..8787809-chr4:8789851..8791798,2	MCF-7	breast:
34	chr4:8894855..8897793-chr4:8901951..8903870,2	K562	blood:
35	chr4:8841775..8843355-chr4:8852105..8854658,2	MCF-7	breast:
36	chr4:8840268..8842596-chr4:8847457..8849928,2	MCF-7	breast:
37	chr4:8677416..8680217-chr4:8770931..8773550,2	K562	blood:
38	chr4:8874973..8877231-chr4:8879936..8882236,2	K562	blood:
39	chr4:8821372..8822221-chr4:8847653..8848611,2	MCF-7	breast:
40	chr4:8639250..8640927-chr4:8642390..8645117,2	K562	blood:
41	chr4:8887461..8890172-chr4:8891389..8893910,2	MCF-7	breast:
42	chr4:8836102..8838665-chr4:8853304..8855667,2	MCF-7	breast:
43	chr4:8875731..8878681-chr4:8880679..8882236,2	K562	blood:
44	chr4:8657843..8659725-chr4:8665360..8667377,2	MCF-7	breast:
45	chr4:8657922..8660434-chr4:8662931..8664931,2	K562	blood:
46	chr4:8689949..8690495-chr4:8884145..8884993,2	MCF-7	breast:
47	chr4:8827560..8829523-chr4:8830683..8833064,2	K562	blood:
48	chr4:8738768..8740939-chr4:8744102..8745703,2	MCF-7	breast:
49	chr4:8667609..8668516-chr4:8887656..8888210,2	MCF-7	breast:
50	chr4:8831480..8833563-chr4:8837142..8839666,2	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMX1-1	chr4:8747165-8747482	NONHSAT095114
2	lnc-HMX1-4	chr4:9036310-9037271	NONHSAT095124
3	lnc-HMX1-1	chr4:8749072-8749394	NONHSAT095113
4	lnc-HMX1-1	chr4:8747165-8747482	NONHSAT095113
5	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095124
6	lnc-HMX1-4	chr4:9036251-9037271	NONHSAT095122
7	lnc-HMX1-1	chr4:8747672-8747863	NONHSAT095113
8	lnc-RP11-1286E23.8.1-1	chr4:9174843-9174908	XLOC_003448
9	lnc-ACOX3-3	chr4:8860441-8860823	ENSG00000258507.1
10	lnc-HMX1-4	chr4:9074628-9074691	NONHSAT095122
11	lnc-ACOX3-3	chr4:8862375-8862553	ENSG00000258507.1
12	lnc-HMX1-1	chr4:8747656-8747759	ENSG00000250915
13	lnc-HMX1-1	chr4:8747656-8747863	NONHSAT095114
14	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095122
15	lnc-HMX1-1	chr4:8747123-8747482	ENSG00000250915
16	lnc-RP11-1286E23.8.1-1	chr4:9173538-9173895	XLOC_003448
17	lnc-HMX1-1	chr4:8749072-8749394	NONHSAT095114
18	lnc-HMX1-4	chr4:9072963-9073140	NONHSAT095124
19	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095123
20	lnc-HMX1-4	chr4:9083355-9083373	NONHSAT095123
21	lnc-HMX1-4	chr4:9036251-9037271	NONHSAT095123
22	lnc-HMX1-3	chr4:9053568-9053777	NONHSAT095125
23	lnc-HMX1-2	chr4:9022583-9022887	NONHSAT095120

No data

Variant related genes	Relation type
USP17L11	TF binding region
USP17L22	TF binding region
ENSG00000264372	TF binding region
ENSG00000250804	TF binding region
ENSG00000197468	TF binding region
USP17L19	TF binding region
USP17L9P	TF binding region
USP17L5	TF binding region
ALG1L14P	TF binding region
USP17L10	TF binding region
FAM90A26	TF binding region
USP17L17	TF binding region
USP17L15	TF binding region
USP17L26	TF binding region
USP17L23	TF binding region
USP17L25	TF binding region
USP17L6P	TF binding region
USP17L27	TF binding region
USP17L20	TF binding region
FAM86KP	TF binding region
ENSG00000258507	TF binding region
USP17L18	TF binding region
ENSG00000250342	TF binding region
ENSG00000271057	TF binding region
ENSG00000251313	TF binding region
USP17L24	TF binding region
USP17L29	TF binding region
USP17L13	TF binding region
HMX1	TF binding region
USP17L14P	TF binding region
USP17L12	TF binding region
ENSG00000238726	TF binding region
UNC93B8	TF binding region
USP17L30	TF binding region
ENSG00000250915	TF binding region
USP17L16P	TF binding region
ENPP7P10	TF binding region
USP17L21	TF binding region
ENSG00000249347	TF binding region
USP17L28	TF binding region
USP17L11	CpG island
USP17L22	CpG island
ENSG00000264372	CpG island
ENSG00000250804	CpG island
ENSG00000197468	CpG island
USP17L19	CpG island
USP17L9P	CpG island
USP17L5	CpG island
ALG1L14P	CpG island
USP17L10	CpG island
FAM90A26	CpG island
USP17L17	CpG island
USP17L15	CpG island
USP17L26	CpG island
USP17L23	CpG island
USP17L25	CpG island
USP17L6P	CpG island
USP17L27	CpG island
USP17L20	CpG island
FAM86KP	CpG island
ENSG00000258507	CpG island
USP17L18	CpG island
ENSG00000250342	CpG island
ENSG00000271057	CpG island
ENSG00000251313	CpG island
USP17L24	CpG island
USP17L29	CpG island
USP17L13	CpG island
HMX1	CpG island
USP17L14P	CpG island
USP17L12	CpG island
ENSG00000238726	CpG island
UNC93B8	CpG island
USP17L30	CpG island
ENSG00000250915	CpG island
USP17L16P	CpG island
ENPP7P10	CpG island
USP17L21	CpG island
ENSG00000249347	CpG island
USP17L28	CpG island
ENSG00000155275	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000260278	chromatin interactions
ENSG00000205959	chromatin interactions
ENSG00000250915	chromatin interactions
ENSG00000170142	chromatin interactions
ENSG00000087008	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000258507	chromatin interactions

Extended variants
information (count: 20288 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:20288 , 50 per page) page: 1 2 3 4 5 6 7 ... 406

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553070632	chr4:8622436-8622437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146734168	chr4:8622454-8622455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62288594	chr4:8622519-8622520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201739710	chr4:8622539-8622540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62288595	chr4:8622617-8622618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150386213	chr4:8622632-8622633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367969620	chr4:8622636-8622637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142696044	chr4:8622700-8622701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372566073	chr4:8622759-8622760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200815487	chr4:8622842-8622843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535569040	chr4:8622907-8622908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554849971	chr4:8622926-8622927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576305484	chr4:8622946-8622947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550385787	chr4:8622971-8622972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4696705	chr4:8622979-8622980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543601375	chr4:8622982-8622983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140525766	chr4:8622990-8622991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577179173	chr4:8622993-8622994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184773007	chr4:8623003-8623004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559068776	chr4:8623023-8623024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529835479	chr4:8623056-8623057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200136898	chr4:8623106-8623107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541566705	chr4:8623110-8623111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368904398	chr4:8623126-8623127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116834080	chr4:8623160-8623161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531027229	chr4:8623166-8623167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188752945	chr4:8623167-8623168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564468337	chr4:8623233-8623234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199942359	chr4:8623292-8623293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368813958	chr4:8623313-8623314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200973094	chr4:8623601-8623602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143192781	chr4:8623620-8623621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62288596	chr4:8623643-8623644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202070770	chr4:8623799-8623800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180829658	chr4:8639415-8639416	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75938836	chr4:8639416-8639417	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147426946	chr4:8639418-8639419	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544033207	chr4:8639560-8639561	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181837497	chr4:8639562-8639563	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533121368	chr4:8639575-8639576	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551654848	chr4:8639594-8639595	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560146728	chr4:8639611-8639612	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs77815055	chr4:8639643-8639644	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs548978510	chr4:8639694-8639695	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs567404123	chr4:8639701-8639702	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs537931080	chr4:8639709-8639710	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs550446710	chr4:8639723-8639724	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs571875862	chr4:8639750-8639751	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs538817906	chr4:8639763-8639764	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs570966755	chr4:8640800-8640801	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Autism	21865298	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:2254 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8596000-8622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:8596000-8623200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:8611800-8622800	Weak transcription	Spleen	Spleen
4	chr4:8613000-8623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:8613800-8623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:8616200-8623200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:8616600-8623000	Weak transcription	Osteobl	bone
8	chr4:8617800-8622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:8617800-8623200	Weak transcription	HSMMtube	muscle
10	chr4:8619000-8623600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:8621400-8623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:8621800-8623400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:8621800-8623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:8622000-8623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:8622000-8623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:8622000-8623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:8622000-8623800	Weak transcription	Placenta	Placenta
18	chr4:8622000-8623800	Weak transcription	Ovary	ovary
19	chr4:8622000-8623800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:8639400-8639600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:8639400-8639600	Enhancers	Ovary	ovary
22	chr4:8639600-8639800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:8640800-8641200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:8640800-8641400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:8641200-8643000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:8641400-8646600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:8642400-8642600	Bivalent Enhancer	Fetal Kidney	kidney
28	chr4:8643000-8643200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:8643200-8647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:8644200-8645800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:8645000-8645400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:8645600-8646600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:8645800-8646600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:8645800-8646800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:8646400-8646600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:8646600-8648000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:8646600-8648000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:8647600-8648000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:8647800-8648200	Bivalent Enhancer	Fetal Kidney	kidney
40	chr4:8648000-8649000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:8648000-8650800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:8648200-8648800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:8648800-8650800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:8649000-8651400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:8650800-8651000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:8650800-8652000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:8651000-8651400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:8651200-8651400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:8651400-8651600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:8651400-8651600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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