Variant report

Variant	nsv879844
Chromosome Location	chr4:120341296-120449810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1702)
CpG islands
(count:732)
Chromatin interactive
region (count:39)
LncRNA
region (count:67)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1702 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:120422798-120423435	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:120425516-120426323	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:120446197-120447155	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:120399782-120400241	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:120375657-120375939	K562	blood:	n/a	n/a
6	ARID3A	chr4:120375640-120376007	HepG2	liver:	n/a	n/a
7	ATF1	chr4:120375410-120376174	K562	blood:	n/a	n/a
8	ATF2	chr4:120375508-120376132	GM12878	blood:	n/a	chr4:120375758-120375769
9	ATF2	chr4:120375555-120376037	GM12878	blood:	n/a	chr4:120375758-120375769
10	ATF2	chr4:120375574-120376077	H1-hESC	embryonic stem cell:	n/a	chr4:120375758-120375769
11	ATF2	chr4:120375554-120376118	H1-hESC	embryonic stem cell:	n/a	chr4:120375758-120375769
12	ATF3	chr4:120375570-120376147	H1-hESC	embryonic stem cell:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
13	ATF3	chr4:120375591-120376108	K562	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
14	ATF3	chr4:120375585-120375981	A549	lung:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
15	ATF3	chr4:120375689-120376103	HepG2	liver:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
16	ATF3	chr4:120376142-120376354	K562	blood:	n/a	n/a
17	ATF3	chr4:120375748-120376028	GM12878	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
18	ATF3	chr4:120375643-120376128	GM12878	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
19	ATF3	chr4:120375697-120376130	H1-hESC	embryonic stem cell:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
20	ATF3	chr4:120375534-120376115	HepG2	liver:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
21	ATF3	chr4:120375667-120376101	K562	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
22	BACH1	chr4:120375824-120376166	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr4:120383409-120383814	GM12878	blood:	n/a	n/a
24	BATF	chr4:120391156-120391506	GM12878	blood:	n/a	chr4:120391372-120391382
25	BATF	chr4:120391177-120391503	GM12878	blood:	n/a	chr4:120391372-120391382
26	BATF	chr4:120383430-120383818	GM12878	blood:	n/a	n/a
27	BATF	chr4:120377964-120378201	GM12878	blood:	n/a	n/a
28	BATF	chr4:120377931-120378220	GM12878	blood:	n/a	n/a
29	BATF	chr4:120375371-120376260	GM12878	blood:	n/a	n/a
30	BCL11A	chr4:120375469-120376323	GM12878	blood:	n/a	n/a
31	BCL11A	chr4:120383416-120384004	GM12878	blood:	n/a	chr4:120383850-120383859
32	BCL11A	chr4:120391181-120391514	GM12878	blood:	n/a	chr4:120391371-120391380
33	BCL11A	chr4:120375997-120376209	GM12878	blood:	n/a	n/a
34	BCL11A	chr4:120378027-120378298	GM12878	blood:	n/a	n/a
35	BCL3	chr4:120375586-120376104	A549	lung:	n/a	n/a
36	BCLAF1	chr4:120375644-120376123	GM12878	blood:	n/a	n/a
37	BCLAF1	chr4:120375555-120376089	GM12878	blood:	n/a	n/a
38	BHLHE40	chr4:120375682-120376067	GM12878	blood:	n/a	n/a
39	BHLHE40	chr4:120433767-120433871	K562	blood:	n/a	n/a
40	BHLHE40	chr4:120375666-120376228	K562	blood:	n/a	n/a
41	BRCA1	chr4:120375591-120376075	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr4:120375657-120376065	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr4:120375681-120376092	HepG2	liver:	n/a	n/a
44	BRCA1	chr4:120375670-120376051	GM12878	blood:	n/a	n/a
45	CBX3	chr4:120374867-120376298	K562	blood:	n/a	n/a
46	CBX3	chr4:120375690-120376086	HCT-116	colon:	n/a	n/a
47	CBX3	chr4:120375579-120376037	K562	blood:	n/a	n/a
48	CCNT2	chr4:120439031-120439231	K562	blood:	n/a	n/a
49	CCNT2	chr4:120375774-120376101	K562	blood:	n/a	n/a
50	CEBPB	chr4:120430181-120430494	IMR90	lung:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:120439736-120439786	T-47D	breast:	n/a
2	chr4:120448071-120448121	HL-60	blood:	n/a
3	chr4:120375409-120375459	Hepatocyte	liver:	n/a
4	chr4:120376271-120376321	GM06990	blood:	n/a
5	chr4:120433619-120433669	ovcar-3	ovarian:	n/a
6	chr4:120373434-120373484	NT2-D1	testis:	n/a
7	chr4:120373434-120373484	MCF-7	breast:	n/a
8	chr4:120375409-120375459	HRE	kidney:	n/a
9	chr4:120375997-120376047	HEEpiC	esophagus:	n/a
10	chr4:120448071-120448121	HAEpiC	amniotic membrane:	n/a
11	chr4:120439736-120439786	LNCaP	prostate:	n/a
12	chr4:120439736-120439786	AG10803	skin:	n/a
13	chr4:120448071-120448121	GM12892	blood:	n/a
14	chr4:120375409-120375459	AG10803	skin:	n/a
15	chr4:120375997-120376047	NB4	blood:	n/a
16	chr4:120419485-120419535	AG10803	skin:	n/a
17	chr4:120378622-120378672	AG09319	gingival:	n/a
18	chr4:120375747-120375797	HAEpiC	amniotic membrane:	n/a
19	chr4:120376271-120376321	HEK293	kidney:	embryo
20	chr4:120376271-120376321	HAEpiC	amniotic membrane:	n/a
21	chr4:120376271-120376321	AG04449	skin:	fetal
22	chr4:120428634-120428684	MCF10A-Er-Src	breast:	n/a
23	chr4:120375997-120376047	GM12878	blood:	n/a
24	chr4:120375747-120375797	AG04449	skin:	fetal
25	chr4:120439736-120439786	HL-60	blood:	n/a
26	chr4:120376055-120376105	HNPCEpiC	eye:	n/a
27	chr4:120375409-120375459	HIPEpiC	eye:	n/a
28	chr4:120375409-120375459	HepG2	liver:	n/a
29	chr4:120376271-120376321	BJ	skin:	n/a
30	chr4:120378622-120378672	GM12878	blood:	n/a
31	chr4:120375997-120376047	HAEpiC	amniotic membrane:	n/a
32	chr4:120448071-120448121	NHBE	bronchial:	n/a
33	chr4:120375747-120375797	NB4	blood:	n/a
34	chr4:120375997-120376047	HUVEC	blood vessel:	n/a
35	chr4:120375997-120376047	Caco-2	colon:	n/a
36	chr4:120433619-120433669	NH-A	brain:	n/a
37	chr4:120433619-120433669	AG09319	gingival:	n/a
38	chr4:120375997-120376047	Jurkat	blood:	n/a
39	chr4:120376271-120376321	NHBE	bronchial:	n/a
40	chr4:120376271-120376321	RPTEC	kidney:	n/a
41	chr4:120428634-120428684	NB4	blood:	n/a
42	chr4:120378622-120378672	BJ	skin:	n/a
43	chr4:120373434-120373484	H1-hESC	embryonic stem cell:	embryo
44	chr4:120428634-120428684	PrEC	prostate:	n/a
45	chr4:120376271-120376321	LNCaP	prostate:	n/a
46	chr4:120433619-120433669	HL-60	blood:	n/a
47	chr4:120375997-120376047	NT2-D1	testis:	n/a
48	chr4:120428634-120428684	HCM	heart:	n/a
49	chr4:120376055-120376105	ovcar-3	ovarian:	n/a
50	chr4:120373434-120373484	PANC-1	pancreas:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120442633..120445586-chr4:120448509..120450219,2	MCF-7	breast:
2	chr4:120415776..120419919-chr4:120421483..120424125,5	K562	blood:
3	chr4:120388467..120390905-chr4:120393709..120395328,2	K562	blood:
4	chr4:120388467..120390905-chr4:120393709..120395328,2	K562	blood:
5	chr4:119679216..119681142-chr4:120375525..120377542,2	MCF-7	breast:
6	chr4:120415776..120419919-chr4:120421483..120424125,5	K562	blood:
7	chr4:120443923..120447132-chr4:120450912..120453275,3	K562	blood:
8	chr4:120418959..120421709-chr4:120435895..120438263,2	MCF-7	breast:
9	chr4:120372429..120374699-chr4:120400382..120402462,2	K562	blood:
10	chr4:120415639..120417290-chr4:120441000..120443323,2	K562	blood:
11	chr4:120437151..120439080-chr4:120441248..120444121,2	K562	blood:
12	chr4:120445632..120447241-chr4:120450649..120452412,2	K562	blood:
13	chr4:120395792..120397416-chr4:120401451..120404061,2	K562	blood:
14	chr4:120417192..120419085-chr4:120422435..120424125,2	K562	blood:
15	chr4:120426318..120428351-chr4:120986302..120988038,2	K562	blood:
16	chr4:120132920..120134685-chr4:120374052..120375829,3	K562	blood:
17	chr4:120428240..120430118-chr4:120439870..120442381,2	K562	blood:
18	chr4:120427480..120429953-chr4:120431995..120434202,3	K562	blood:
19	chr4:120372429..120374699-chr4:120400382..120402462,2	K562	blood:
20	chr4:120442633..120445586-chr4:120448509..120450219,2	MCF-7	breast:
21	chr4:120426899..120429697-chr4:120434255..120436706,2	K562	blood:
22	chr4:120437151..120439080-chr4:120441248..120444121,2	K562	blood:
23	chr4:120422211..120423883-chr4:120441121..120442797,2	K562	blood:
24	chr4:120401525..120403278-chr4:120407490..120410209,2	MCF-7	breast:
25	chr4:120422211..120423883-chr4:120441121..120442797,2	K562	blood:
26	chr4:120430071..120433986-chr4:120435294..120438761,4	K562	blood:
27	chr4:120235248..120235905-chr4:120414247..120414953,2	MCF-7	breast:
28	chr4:120235330..120235847-chr4:120411289..120411806,2	MCF-7	breast:
29	chr4:120417192..120419085-chr4:120422435..120424125,2	K562	blood:
30	chr4:120394266..120396422-chr4:120397553..120399819,3	K562	blood:
31	chr4:120395792..120397416-chr4:120401451..120404061,2	K562	blood:
32	chr4:120132920..120134685-chr4:120374052..120375829,2	K562	blood:
33	chr4:120431676..120434490-chr4:120437261..120440193,2	K562	blood:
34	chr4:120418959..120421709-chr4:120435895..120438263,2	MCF-7	breast:
35	chr4:120221978..120223635-chr4:120393077..120397275,3	K562	blood:
36	chr4:120431226..120433152-chr4:120441758..120443501,2	K562	blood:
37	chr4:120394266..120396422-chr4:120397553..120399819,3	K562	blood:
38	chr4:120442217..120444680-chr4:120461087..120463839,2	K562	blood:
39	chr4:120431226..120433152-chr4:120441758..120443501,2	K562	blood:

(count:67 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT098091
2	lnc-AC110373.1-8	chr4:120415588-120415678	NONHSAT098082
3	lnc-PDE5A-3	chr4:120370725-120371280	NONHSAT098065
4	lnc-PDE5A-3	chr4:120365524-120365586	NONHSAT098064
5	lnc-AC110373.1-8	chr4:120381367-120381397	NONHSAT098079
6	lnc-AC110373.1-8	chr4:120415588-120415678	NONHSAT098085
7	lnc-AC110373.1-3	chr4:120377505-120377592	ENSG00000250950.1
8	lnc-PDE5A-3	chr4:120371197-120371312	NONHSAT098064
9	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT098086
10	lnc-AC110373.1-8	chr4:120433506-120433619	NONHSAT098085
11	lnc-AC110373.1-8	chr4:120384051-120384134	NONHSAT098081
12	lnc-AC110373.1-8	chr4:120418966-120419058	NONHSAT098085
13	lnc-AC110373.1-8	chr4:120381811-120381982	NONHSAT098081
14	lnc-AC110373.1-8	chr4:120415581-120415678	NONHSAT098086
15	lnc-AC110373.1-8	chr4:120433512-120433619	NONHSAT098091
16	lnc-AC110373.1-8	chr4:120414488-120414592	NONHSAT098081
17	lnc-AC110373.1-8	chr4:120418966-120419058	NONHSAT147297
18	lnc-AC110373.1-8	chr4:120379123-120379232	NONHSAT098078
19	lnc-AC110373.1-8	chr4:120414488-120414592	NONHSAT098085
20	lnc-AC110373.1-8	chr4:120409798-120409872	NONHSAT098085
21	lnc-AC110373.1-8	chr4:120420716-120421434	NONHSAT147297
22	lnc-AC110373.1-8	chr4:120401906-120402691	NONHSAT098084
23	lnc-AC110373.1-8	chr4:120433506-120433619	NONHSAT098089
24	lnc-AC110373.1-8	chr4:120448525-120448670	NONHSAT098093
25	lnc-PDE5A-3	chr4:120375401-120375783	NONHSAT098065
26	lnc-AC110373.1-8	chr4:120433968-120434075	NONHSAT098089
27	lnc-AC110373.1-8	chr4:120418817-120419182	NONHSAT098087
28	lnc-AC110373.1-8	chr4:120381834-120381982	NONHSAT098082
29	lnc-AC110373.1-8	chr4:120400981-120401660	NONHSAT098084
30	lnc-AC110373.1-8	chr4:120415588-120415678	NONHSAT098081
31	lnc-AC110373.1-8	chr4:120395771-120396293	NONHSAT098084
32	lnc-AC110373.1-8	chr4:120440644-120440721	NONHSAT098086
33	lnc-AC110373.1-8	chr4:120433512-120433619	NONHSAT098090
34	lnc-AC110373.1-8	chr4:120382872-120383019	NONHSAT098078
35	lnc-AC110373.1-8	chr4:120382872-120383006	NONHSAT098079
36	lnc-AC110373.1-8	chr4:120384051-120384134	NONHSAT098079
37	lnc-AC110373.1-8	chr4:120399034-120399542	NONHSAT098084
38	lnc-AC110373.1-8	chr4:120396336-120396357	NONHSAT098084
39	lnc-AC110373.1-8	chr4:120415641-120415678	NONHSAT147297
40	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT098090
41	lnc-PDE5A-3	chr4:120362106-120362207	NONHSAT098064
42	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT147298
43	lnc-AC110373.1-8	chr4:120418966-120419058	NONHSAT098086
44	lnc-AC110373.1-8	chr4:120433506-120433665	NONHSAT098079
45	lnc-AC110373.1-8	chr4:120418966-120419142	NONHSAT098082
46	lnc-AC110373.1-8	chr4:120414488-120414592	NONHSAT098079
47	lnc-AC110373.1-8	chr4:120381886-120381982	NONHSAT098079
48	lnc-AC110373.1-8	chr4:120433927-120434125	NONHSAT098092
49	lnc-AC110373.1-8	chr4:120382872-120383006	NONHSAT098081
50	lnc-AC110373.1-8	chr4:120402929-120403580	NONHSAT098084

No data

Variant related genes	Relation type
ENSG00000250950	TF binding region
ENSG00000248280	TF binding region
PDE5A	TF binding region
RNU6-1217P	TF binding region
ENSG00000245958	TF binding region
ENSG00000250950	CpG island
ENSG00000248280	CpG island
PDE5A	CpG island
RNU6-1217P	CpG island
ENSG00000245958	CpG island
ENSG00000138735	chromatin interactions
ENSG00000178636	chromatin interactions
ENSG00000245958	chromatin interactions
ENSG00000164096	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000150961	chromatin interactions
ENSG00000145390	chromatin interactions

Extended variants
information (count: 4021 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:4021 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548630365	chr4:120341300-120341301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374247228	chr4:120341341-120341342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376014183	chr4:120341381-120341382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186342786	chr4:120341401-120341402	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538476376	chr4:120341411-120341412	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371112075	chr4:120341490-120341491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551658383	chr4:120341500-120341501	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4102972	chr4:120341593-120341594	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4102971	chr4:120341601-120341602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369490086	chr4:120341608-120341609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200593015	chr4:120341609-120341610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377503603	chr4:120341610-120341611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571939984	chr4:120341644-120341645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534191447	chr4:120341648-120341649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199758570	chr4:120341667-120341668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188294252	chr4:120341695-120341696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536753286	chr4:120341709-120341710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4102970	chr4:120341716-120341717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556734681	chr4:120341718-120341719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4102969	chr4:120341747-120341748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74218286	chr4:120341756-120341757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576437652	chr4:120341767-120341768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201644432	chr4:120341792-120341793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180701738	chr4:120341808-120341809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141275676	chr4:120341814-120341815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564093717	chr4:120341905-120341906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577891539	chr4:120341955-120341956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540091438	chr4:120341999-120342000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531295429	chr4:120342003-120342004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371727342	chr4:120342009-120342010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185275749	chr4:120342015-120342016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542210208	chr4:120342022-120342023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190433193	chr4:120342042-120342043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551401174	chr4:120342047-120342048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531289080	chr4:120342048-120342049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551965254	chr4:120342055-120342056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571718697	chr4:120342064-120342065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527989670	chr4:120342102-120342103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3931215	chr4:120342103-120342104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182899609	chr4:120342144-120342145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548068900	chr4:120342215-120342216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9685619	chr4:120342258-120342259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372439701	chr4:120342269-120342270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536673919	chr4:120342295-120342296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534531111	chr4:120342654-120342655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111648661	chr4:120342693-120342694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556581844	chr4:120342909-120342910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570150435	chr4:120342951-120342952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375683477	chr4:120342962-120342963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538732201	chr4:120342972-120342973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2112 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120324200-120342200	Weak transcription	Pancreas	Pancrea
2	chr4:120326600-120360800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:120327200-120361400	Weak transcription	Fetal Intestine Small	intestine
4	chr4:120328800-120375200	Weak transcription	Ovary	ovary
5	chr4:120330200-120367600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:120330600-120341400	Weak transcription	Adipose Nuclei	Adipose
7	chr4:120330600-120355400	Weak transcription	Liver	Liver
8	chr4:120330600-120365200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:120330600-120366400	Weak transcription	Fetal Stomach	stomach
10	chr4:120336800-120365400	Weak transcription	Fetal Intestine Large	intestine
11	chr4:120341200-120341600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:120341400-120341800	Strong transcription	Adipose Nuclei	Adipose
13	chr4:120341800-120367800	Weak transcription	Adipose Nuclei	Adipose
14	chr4:120345400-120375200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:120349400-120375400	Weak transcription	Lung	lung
16	chr4:120353200-120375000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:120353200-120375200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:120353200-120375200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:120353400-120375200	Weak transcription	Pancreas	Pancrea
20	chr4:120353800-120366000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:120354000-120357400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:120354000-120368000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:120354000-120375000	Weak transcription	Placenta	Placenta
24	chr4:120354400-120375200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:120354600-120375200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:120354800-120375600	Weak transcription	Spleen	Spleen
27	chr4:120355000-120357400	Weak transcription	Fetal Thymus	thymus
28	chr4:120355000-120375200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:120355200-120375000	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:120355400-120356600	Strong transcription	Liver	Liver
31	chr4:120355400-120359800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:120355800-120369200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:120355800-120375000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr4:120356600-120363200	Weak transcription	Liver	Liver
35	chr4:120357400-120357800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:120357800-120361400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:120357800-120375000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:120358200-120368600	Weak transcription	Brain Anterior Caudate	brain
39	chr4:120358400-120369600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:120358400-120374800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:120358600-120375200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:120358800-120375200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:120359000-120375400	Weak transcription	Left Ventricle	heart
44	chr4:120359800-120360000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr4:120360000-120369400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:120360000-120375200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:120360000-120375400	Weak transcription	Brain Substantia Nigra	brain
48	chr4:120360000-120375400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:120360200-120369600	Weak transcription	Gastric	stomach
50	chr4:120360200-120375400	Weak transcription	Esophagus	oesophagus

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