Variant report

Variant	nsv427694
Chromosome Location	chr4:120250511-120501728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2311)
CpG islands
(count:1220)
Chromatin interactive
region (count:57)
LncRNA
region (count:96)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2311 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:120425516-120426323	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:120375640-120376007	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	chr4:120480278-120480521	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:120422798-120423435	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:120292324-120292770	HepG2	liver:	n/a	n/a
9	ARID3A	chr4:120464380-120464644	HepG2	liver:	n/a	n/a
10	ATF1	chr4:120324198-120324405	K562	blood:	n/a	n/a
11	ATF1	chr4:120375410-120376174	K562	blood:	n/a	n/a
12	ATF2	chr4:120375554-120376118	H1-hESC	embryonic stem cell:	n/a	chr4:120375758-120375769
13	ATF2	chr4:120375508-120376132	GM12878	blood:	n/a	chr4:120375758-120375769
14	ATF2	chr4:120375574-120376077	H1-hESC	embryonic stem cell:	n/a	chr4:120375758-120375769
15	ATF2	chr4:120375555-120376037	GM12878	blood:	n/a	chr4:120375758-120375769
16	ATF2	chr4:120291443-120291898	GM12878	blood:	n/a	n/a
17	ATF3	chr4:120375570-120376147	H1-hESC	embryonic stem cell:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
18	ATF3	chr4:120375667-120376101	K562	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
19	ATF3	chr4:120375689-120376103	HepG2	liver:	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	chr4:120376142-120376354	K562	blood:	n/a	n/a
22	ATF3	chr4:120375585-120375981	A549	lung:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
23	ATF3	chr4:120375591-120376108	K562	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
24	ATF3	chr4:120375697-120376130	H1-hESC	embryonic stem cell:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
25	ATF3	chr4:120375643-120376128	GM12878	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
26	ATF3	chr4:120375748-120376028	GM12878	blood:	n/a	chr4:120375748-120375768 chr4:120375782-120375795 chr4:120375756-120375769 chr4:120375784-120375804
27	BACH1	chr4:120375824-120376166	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr4:120383409-120383814	GM12878	blood:	n/a	n/a
29	BATF	chr4:120377931-120378220	GM12878	blood:	n/a	n/a
30	BATF	chr4:120336031-120336269	GM12878	blood:	n/a	n/a
31	BATF	chr4:120377964-120378201	GM12878	blood:	n/a	n/a
32	BATF	chr4:120291572-120291901	GM12878	blood:	n/a	n/a
33	BATF	chr4:120375371-120376260	GM12878	blood:	n/a	n/a
34	BATF	chr4:120288050-120288247	GM12878	blood:	n/a	n/a
35	BATF	chr4:120295932-120296203	GM12878	blood:	n/a	chr4:120296096-120296107
36	BATF	chr4:120291551-120292008	GM12878	blood:	n/a	n/a
37	BATF	chr4:120383430-120383818	GM12878	blood:	n/a	n/a
38	BATF	chr4:120391177-120391503	GM12878	blood:	n/a	chr4:120391372-120391382
39	BATF	chr4:120391156-120391506	GM12878	blood:	n/a	chr4:120391372-120391382
40	BCL11A	chr4:120375469-120376323	GM12878	blood:	n/a	n/a
41	BCL11A	chr4:120375997-120376209	GM12878	blood:	n/a	n/a
42	BCL11A	chr4:120378027-120378298	GM12878	blood:	n/a	n/a
43	BCL11A	chr4:120391181-120391514	GM12878	blood:	n/a	chr4:120391371-120391380
44	BCL11A	chr4:120291635-120291957	GM12878	blood:	n/a	n/a
45	BCL11A	chr4:120383416-120384004	GM12878	blood:	n/a	chr4:120383850-120383859
46	BCL3	chr4:120375586-120376104	A549	lung:	n/a	n/a
47	BCLAF1	chr4:120375555-120376089	GM12878	blood:	n/a	n/a
48	BCLAF1	chr4:120375644-120376123	GM12878	blood:	n/a	n/a
49	BHLHE40	chr4:120292531-120292706	HepG2	liver:	n/a	n/a
50	BHLHE40	chr4:120375682-120376067	GM12878	blood:	n/a	n/a

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:120433619-120433669	PFSK-1	brain:	n/a
2	chr4:120328025-120328075	HIPEpiC	eye:	n/a
3	chr4:120332083-120332133	NB4	blood:	n/a
4	chr4:120329925-120329975	GM06990	blood:	n/a
5	chr4:120373434-120373484	LNCaP	prostate:	n/a
6	chr4:120448071-120448121	GM19239	blood:	n/a
7	chr4:120375997-120376047	MCF10A-Er-Src	breast:	n/a
8	chr4:120472195-120472245	HUVEC	blood vessel:	n/a
9	chr4:120375997-120376047	NHDF-neo	bronchial:	n/a
10	chr4:120428634-120428684	PANC-1	pancreas:	n/a
11	chr4:120376055-120376105	PrEC	prostate:	n/a
12	chr4:120327624-120327674	AG04450	lung:	fetal
13	chr4:120465302-120465352	PrEC	prostate:	n/a
14	chr4:120375997-120376047	MCF-7	breast:	n/a
15	chr4:120375747-120375797	PANC-1	pancreas:	n/a
16	chr4:120439736-120439786	CMK	blood:	n/a
17	chr4:120419485-120419535	GM12892	blood:	n/a
18	chr4:120493308-120493358	Caco-2	colon:	n/a
19	chr4:120378622-120378672	NT2-D1	testis:	n/a
20	chr4:120376055-120376105	SAEC	small airway:	n/a
21	chr4:120373434-120373484	PANC-1	pancreas:	n/a
22	chr4:120472195-120472245	HCT-116	colon:	n/a
23	chr4:120327182-120327232	MCF10A-Er-Src	breast:	n/a
24	chr4:120428634-120428684	K562	blood:	n/a
25	chr4:120428634-120428684	GM12878	blood:	n/a
26	chr4:120472195-120472245	AG10803	skin:	n/a
27	chr4:120376271-120376321	HRE	kidney:	n/a
28	chr4:120439736-120439786	HepG2	liver:	n/a
29	chr4:120327624-120327674	U87	brain:	n/a
30	chr4:120376271-120376321	HNPCEpiC	eye:	n/a
31	chr4:120465302-120465352	T-47D	breast:	n/a
32	chr4:120375409-120375459	PANC-1	pancreas:	n/a
33	chr4:120433619-120433669	IMR90	lung:	fetal
34	chr4:120465302-120465352	H1-hESC	embryonic stem cell:	embryo
35	chr4:120375997-120376047	AG10803	skin:	n/a
36	chr4:120419485-120419535	NH-A	brain:	n/a
37	chr4:120373434-120373484	HRPEpiC	eye:	n/a
38	chr4:120448071-120448121	T-47D	breast:	n/a
39	chr4:120493308-120493358	HMEC	breast:	n/a
40	chr4:120439736-120439786	HEEpiC	esophagus:	n/a
41	chr4:120465302-120465352	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:120433619-120433669	A549	lung:	n/a
43	chr4:120439736-120439786	MCF10A-Er-Src	breast:	n/a
44	chr4:120375409-120375459	IMR90	lung:	fetal
45	chr4:120472195-120472245	Hepatocyte	liver:	n/a
46	chr4:120373434-120373484	NHBE	bronchial:	n/a
47	chr4:120376271-120376321	CMK	blood:	n/a
48	chr4:120376055-120376105	HNPCEpiC	eye:	n/a
49	chr4:120419485-120419535	Hepatocyte	liver:	n/a
50	chr4:120375409-120375459	HEK293	kidney:	embryo

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:41344913..41345600-chr4:120457409..120458239,2	MCF-7	breast:
2	chr4:120437151..120439080-chr4:120441248..120444121,2	K562	blood:
3	chr4:120431676..120434490-chr4:120437261..120440193,2	K562	blood:
4	chr4:120132920..120134685-chr4:120374052..120375829,2	K562	blood:
5	chr4:120372429..120374699-chr4:120400382..120402462,2	K562	blood:
6	chr4:120431226..120433152-chr4:120441758..120443501,2	K562	blood:
7	chr4:120442633..120445586-chr4:120448509..120450219,2	MCF-7	breast:
8	chr4:120235330..120235847-chr4:120411289..120411806,2	MCF-7	breast:
9	chr4:120456752..120459407-chr4:120463554..120465476,2	K562	blood:
10	chr4:120372429..120374699-chr4:120400382..120402462,2	K562	blood:
11	chr4:120427480..120429953-chr4:120431995..120434202,3	K562	blood:
12	chr4:120437151..120439080-chr4:120441248..120444121,2	K562	blood:
13	chr4:120443923..120447132-chr4:120450912..120453275,3	K562	blood:
14	chr4:120395792..120397416-chr4:120401451..120404061,2	K562	blood:
15	chr4:120485362..120487909-chr4:120507957..120510627,2	K562	blood:
16	chr4:120445632..120447241-chr4:120450649..120452412,2	K562	blood:
17	chr4:120388467..120390905-chr4:120393709..120395328,2	K562	blood:
18	chr4:120479940..120480779-chr4:120548493..120549108,2	MCF-7	breast:
19	chr4:120394266..120396422-chr4:120397553..120399819,3	K562	blood:
20	chr4:120415776..120419919-chr4:120421483..120424125,5	K562	blood:
21	chr4:120426318..120428351-chr4:120986302..120988038,2	K562	blood:
22	chr4:120422211..120423883-chr4:120441121..120442797,2	K562	blood:
23	chr4:120451722..120454309-chr4:120472350..120475109,2	K562	blood:
24	chr4:120417192..120419085-chr4:120422435..120424125,2	K562	blood:
25	chr4:119679216..119681142-chr4:120375525..120377542,2	MCF-7	breast:
26	chr4:120461776..120463313-chr4:120464318..120466484,2	K562	blood:
27	chr4:120415639..120417290-chr4:120441000..120443323,2	K562	blood:
28	chr4:120422211..120423883-chr4:120441121..120442797,2	K562	blood:
29	chr4:120443923..120447132-chr4:120450912..120453275,3	K562	blood:
30	chr4:120442217..120444680-chr4:120461087..120463839,2	K562	blood:
31	chr4:120451722..120454309-chr4:120472350..120475109,2	K562	blood:
32	chr4:120401525..120403278-chr4:120407490..120410209,2	MCF-7	breast:
33	chr4:120486128..120488621-chr4:120988005..120990229,2	MCF-7	breast:
34	chr4:120451404..120453710-chr4:120455782..120457954,2	MCF-7	breast:
35	chr4:120235248..120235905-chr4:120414247..120414953,2	MCF-7	breast:
36	chr4:120221978..120223635-chr4:120393077..120397275,3	K562	blood:
37	chr4:120431226..120433152-chr4:120441758..120443501,2	K562	blood:
38	chr4:120445632..120447241-chr4:120450649..120452412,2	K562	blood:
39	chr4:120249451..120251294-chr4:120987361..120988915,2	K562	blood:
40	chr4:120461776..120463313-chr4:120464318..120466484,2	K562	blood:
41	chr4:120132920..120134685-chr4:120374052..120375829,3	K562	blood:
42	chr4:120479930..120480751-chr4:120707167..120707918,2	MCF-7	breast:
43	chr4:120394266..120396422-chr4:120397553..120399819,3	K562	blood:
44	chr4:120452049..120454264-chr4:120457306..120459994,2	K562	blood:
45	chr4:120430071..120433986-chr4:120435294..120438761,4	K562	blood:
46	chr4:120418959..120421709-chr4:120435895..120438263,2	MCF-7	breast:
47	chr4:120451404..120453710-chr4:120455782..120457954,2	MCF-7	breast:
48	chr4:120428240..120430118-chr4:120439870..120442381,2	K562	blood:
49	chr4:120418959..120421709-chr4:120435895..120438263,2	MCF-7	breast:
50	chr4:120447620..120450408-chr4:120454969..120457330,2	K562	blood:

(count:96 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-8	chr4:120415588-120415678	NONHSAT098081
2	lnc-AC110373.1-8	chr4:120471534-120471598	NONHSAT098089
3	lnc-AC110373.1-8	chr4:120449895-120449944	NONHSAT098093
4	lnc-AC110373.1-8	chr4:120473043-120473181	NONHSAT147298
5	lnc-AC110373.1-8	chr4:120382872-120383006	NONHSAT098081
6	lnc-AC110373.1-8	chr4:120414488-120414592	NONHSAT098081
7	lnc-AC110373.1-2	chr4:120330488-120331388	ENSG00000260091.1
8	lnc-AC110373.1-8	chr4:120384051-120384134	NONHSAT098081
9	lnc-AC110373.1-8	chr4:120433506-120433619	NONHSAT098085
10	lnc-AC110373.1-8	chr4:120415581-120415678	NONHSAT098086
11	lnc-AC110373.1-8	chr4:120381898-120381975	NONHSAT098078
12	lnc-AC110373.1-8	chr4:120473043-120473179	NONHSAT098085
13	lnc-AC110373.1-8	chr4:120473043-120473178	NONHSAT098089
14	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT098091
15	lnc-AC110373.1-8	chr4:120420716-120421434	NONHSAT147297
16	lnc-AC110373.1-8	chr4:120471534-120471598	NONHSAT098093
17	lnc-AC110373.1-8	chr4:120379123-120379232	NONHSAT098078
18	lnc-AC110373.1-8	chr4:120418817-120419182	NONHSAT098087
19	lnc-AC110373.1-8	chr4:120464908-120465000	NONHSAT098085
20	lnc-AC110373.1-8	chr4:120400981-120401660	NONHSAT098084
21	lnc-AC110373.1-8	chr4:120433512-120433619	NONHSAT098091
22	lnc-AC110373.1-8	chr4:120418966-120419058	NONHSAT098085
23	lnc-AC110373.1-8	chr4:120473043-120473181	NONHSAT098090
24	lnc-AC110373.1-8	chr4:120414488-120414592	NONHSAT098079
25	lnc-AC110373.1-3	chr4:120377948-120378432	ENSG00000250950.1
26	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT147298
27	lnc-PDE5A-3	chr4:120371197-120371312	NONHSAT098064
28	lnc-AC110373.1-8	chr4:120418966-120419058	NONHSAT098086
29	lnc-AC110373.1-8	chr4:120473043-120473181	NONHSAT098093
30	lnc-AC110373.1-8	chr4:120433506-120433619	NONHSAT098086
31	lnc-AC110373.1-8	chr4:120433927-120434125	NONHSAT098092
32	lnc-AC110373.1-8	chr4:120471534-120471598	NONHSAT098091
33	lnc-AC110373.1-3	chr4:120377505-120377592	ENSG00000250950.1
34	lnc-AC110373.1-8	chr4:120433506-120433619	NONHSAT098089
35	lnc-AC110373.1-8	chr4:120415588-120415678	NONHSAT098082
36	lnc-AC110373.1-8	chr4:120414488-120414592	NONHSAT098082
37	lnc-FABP2-3	chr4:120462909-120463157	NONHSAT098094
38	lnc-AC110373.1-8	chr4:120414488-120414592	NONHSAT098085
39	lnc-AC110373.1-8	chr4:120384051-120384134	NONHSAT098082
40	lnc-AC110373.1-8	chr4:120449895-120449944	NONHSAT098090
41	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT098086
42	lnc-PDE5A-3	chr4:120362106-120362207	NONHSAT098064
43	lnc-AC110373.1-8	chr4:120433968-120434075	NONHSAT098089
44	lnc-AC110373.1-8	chr4:120418966-120419058	NONHSAT147297
45	lnc-AC110373.1-8	chr4:120415641-120415678	NONHSAT147297
46	lnc-AC110373.1-8	chr4:120464908-120465000	NONHSAT147298
47	lnc-AC110373.1-8	chr4:120399034-120399542	NONHSAT098084
48	lnc-AC110373.1-8	chr4:120384051-120384134	NONHSAT098079
49	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT098085
50	lnc-AC110373.1-8	chr4:120473043-120473181	NONHSAT098091

No data

Variant related genes	Relation type
ENSG00000250950	TF binding region
ENSG00000221245	TF binding region
RNU4-33P	TF binding region
ENSG00000248280	TF binding region
ENSG00000249244	TF binding region
PDE5A	TF binding region
KLHL2P1	TF binding region
ENSG00000260091	TF binding region
RNU6-1217P	TF binding region
ENSG00000245958	TF binding region
ENSG00000250950	CpG island
ENSG00000221245	CpG island
RNU4-33P	CpG island
ENSG00000248280	CpG island
ENSG00000249244	CpG island
PDE5A	CpG island
KLHL2P1	CpG island
ENSG00000260091	CpG island
RNU6-1217P	CpG island
ENSG00000245958	CpG island
ENSG00000102738	chromatin interactions
ENSG00000245958	chromatin interactions
ENSG00000250938	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000138735	chromatin interactions
ENSG00000150961	chromatin interactions
ENSG00000178636	chromatin interactions
ENSG00000164096	chromatin interactions

Extended variants
information (count: 8616 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:8616 , 50 per page) page: 1 2 3 4 5 6 7 ... 173

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111913397	chr4:120250557-120250558	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs34643384	chr4:120250594-120250595	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs542938384	chr4:120250643-120250644	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs140422403	chr4:120250666-120250667	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544614387	chr4:120250667-120250668	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531380612	chr4:120250669-120250670	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537238908	chr4:120250712-120250713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs1511017	chr4:120250805-120250806	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs12498994	chr4:120250818-120250819	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs527392853	chr4:120250845-120250846	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547977426	chr4:120250867-120250868	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199884400	chr4:120250905-120250906	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs141177415	chr4:120251025-120251026	Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs189226484	chr4:120251082-120251083	Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs12507565	chr4:120251121-120251122	Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs34540647	chr4:120251122-120251123	Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs191297896	chr4:120251139-120251140	Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs183490962	chr4:120251169-120251170	Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs188118035	chr4:120251170-120251171	Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs12511640	chr4:120251248-120251249	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs112925501	chr4:120251272-120251273	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs1980028	chr4:120251336-120251337	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs202237613	chr4:120251349-120251350	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs375538856	chr4:120251352-120251353	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs181355880	chr4:120251360-120251361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573817096	chr4:120251427-120251428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139379241	chr4:120251444-120251445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150034786	chr4:120251555-120251556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575459597	chr4:120251570-120251571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1980027	chr4:120251577-120251578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs570176137	chr4:120251606-120251607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1980026	chr4:120251643-120251644	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs2175382	chr4:120251711-120251712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544982237	chr4:120251719-120251720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4388072	chr4:120251798-120251799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564891365	chr4:120251834-120251835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552563638	chr4:120251845-120251846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186289190	chr4:120251870-120251871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541161496	chr4:120251899-120251900	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs116545339	chr4:120251911-120251912	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs112255743	chr4:120251927-120251928	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs535364698	chr4:120251941-120251942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs33971271	chr4:120251954-120251955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372184383	chr4:120251957-120251958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28713555	chr4:120251995-120251996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs190301176	chr4:120252013-120252014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11098501	chr4:120252017-120252018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs72916519	chr4:120252028-120252029	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181538002	chr4:120252029-120252030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140173178	chr4:120252032-120252033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3058 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120222000-120251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:120235600-120251000	Weak transcription	Left Ventricle	heart
3	chr4:120249800-120252800	Enhancers	Fetal Heart	heart
4	chr4:120250000-120250800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:120250000-120251000	Weak transcription	Fetal Intestine Large	intestine
6	chr4:120250200-120250600	Weak transcription	Fetal Intestine Small	intestine
7	chr4:120250600-120251600	Enhancers	Fetal Intestine Small	intestine
8	chr4:120250800-120251800	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:120251000-120251200	Enhancers	Left Ventricle	heart
10	chr4:120251000-120251600	Enhancers	Fetal Intestine Large	intestine
11	chr4:120251000-120251800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr4:120251200-120257600	Weak transcription	Left Ventricle	heart
13	chr4:120251800-120258000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:120253800-120254000	Enhancers	Esophagus	oesophagus
15	chr4:120254000-120254200	Weak transcription	Esophagus	oesophagus
16	chr4:120256800-120258000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:120256800-120259000	Enhancers	Spleen	Spleen
18	chr4:120257000-120257200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:120257000-120258400	Enhancers	HMEC	breast
20	chr4:120257600-120257800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr4:120257600-120258400	Enhancers	NHEK	skin
22	chr4:120257600-120259000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:120257800-120258400	Weak transcription	Left Ventricle	heart
24	chr4:120257800-120258600	Enhancers	HUVEC	blood vessel
25	chr4:120257800-120258600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr4:120258000-120258200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:120258000-120258400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:120258000-120259000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr4:120258200-120258600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:120258200-120259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:120258200-120259200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:120258600-120259000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr4:120258800-120259000	Enhancers	Left Ventricle	heart
34	chr4:120259000-120259400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr4:120262200-120264600	Weak transcription	HepG2	liver
36	chr4:120263200-120264000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:120264000-120264400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:120264400-120266400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:120264600-120264800	Enhancers	HepG2	liver
40	chr4:120266400-120275000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:120269000-120269200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:120269000-120269400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr4:120269200-120277600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:120269600-120293000	Weak transcription	Fetal Heart	heart
45	chr4:120273800-120274000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:120273800-120275200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:120274400-120275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:120274400-120275400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:120274400-120275400	Enhancers	NHEK	skin
50	chr4:120274600-120274800	Enhancers	HUES6 Cell Line	embryonic stem cell

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