Variant report

Variant	nsv1027445
Chromosome Location	chr7:19947297-20211733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1888)
CpG islands
(count:854)
Chromatin interactive
region (count:51)
LncRNA
region (count:73)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1888 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:20154006-20154440	K562	blood:	n/a	n/a
2	ATF1	chr7:19995174-19995307	K562	blood:	n/a	n/a
3	ATF2	chr7:20160225-20160794	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr7:20181264-20181582	GM12878	blood:	n/a	n/a
5	ATF2	chr7:20152940-20153616	GM12878	blood:	n/a	n/a
6	ATF2	chr7:20059325-20059750	GM12878	blood:	n/a	n/a
7	ATF2	chr7:20092969-20093351	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr7:20165645-20166007	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr7:20059252-20059724	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr7:20104747-20105349	GM12878	blood:	n/a	n/a
11	ATF2	chr7:20163687-20164118	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr7:20153945-20154525	GM12878	blood:	n/a	chr7:20154255-20154266
13	ATF2	chr7:20069962-20071157	GM12878	blood:	n/a	n/a
14	ATF2	chr7:20153964-20154575	GM12878	blood:	n/a	chr7:20154255-20154266
15	ATF2	chr7:19967840-19968308	GM12878	blood:	n/a	n/a
16	ATF2	chr7:20153002-20153618	GM12878	blood:	n/a	n/a
17	ATF2	chr7:19967799-19968231	GM12878	blood:	n/a	n/a
18	ATF2	chr7:20104786-20105318	GM12878	blood:	n/a	n/a
19	ATF2	chr7:20070587-20071031	GM12878	blood:	n/a	n/a
20	ATF2	chr7:20160090-20160751	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr7:20059250-20059815	GM12878	blood:	n/a	n/a
22	ATF2	chr7:20165643-20166007	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF3	chr7:20154111-20154371	K562	blood:	n/a	chr7:20154253-20154266 chr7:20154254-20154267 chr7:20154255-20154266 chr7:20154253-20154268 chr7:20154255-20154266 chr7:20154256-20154264 chr7:20154254-20154264
24	ATF3	chr7:20009647-20010236	A549	lung:	n/a	n/a
25	ATF3	chr7:20009609-20010216	A549	lung:	n/a	n/a
26	ATF3	chr7:19997847-19998517	A549	lung:	n/a	n/a
27	ATF3	chr7:19997844-19998453	A549	lung:	n/a	n/a
28	BACH1	chr7:20056374-20056653	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr7:20147009-20147013	K562	blood:	n/a	n/a
30	BACH1	chr7:20056337-20056658	K562	blood:	n/a	n/a
31	BACH1	chr7:20167763-20167815	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr7:20093188-20093657	H1-hESC	embryonic stem cell:	n/a	n/a
33	BATF	chr7:20070016-20070483	GM12878	blood:	n/a	chr7:20070282-20070293
34	BATF	chr7:20070692-20071107	GM12878	blood:	n/a	n/a
35	BATF	chr7:19967871-19968233	GM12878	blood:	n/a	chr7:19968083-19968094 chr7:19968122-19968130
36	BATF	chr7:20153014-20153455	GM12878	blood:	n/a	n/a
37	BATF	chr7:20059274-20059715	GM12878	blood:	n/a	n/a
38	BATF	chr7:19967879-19968267	GM12878	blood:	n/a	chr7:19968083-19968094 chr7:19968122-19968130
39	BATF	chr7:19955665-19955957	GM12878	blood:	n/a	chr7:19955794-19955804
40	BATF	chr7:20070086-20070452	GM12878	blood:	n/a	chr7:20070282-20070293
41	BATF	chr7:19967522-19967794	GM12878	blood:	n/a	n/a
42	BATF	chr7:20135157-20135396	GM12878	blood:	n/a	n/a
43	BATF	chr7:20070779-20071048	GM12878	blood:	n/a	n/a
44	BATF	chr7:20104975-20105271	GM12878	blood:	n/a	n/a
45	BATF	chr7:20164682-20164940	GM12878	blood:	n/a	n/a
46	BATF	chr7:20164608-20164944	GM12878	blood:	n/a	n/a
47	BATF	chr7:20153097-20153427	GM12878	blood:	n/a	n/a
48	BATF	chr7:20059309-20059660	GM12878	blood:	n/a	n/a
49	BATF	chr7:19955619-19955990	GM12878	blood:	n/a	chr7:19955794-19955804
50	BCL11A	chr7:20059312-20059758	GM12878	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:20151424-20151474	HAEpiC	amniotic membrane:	n/a
2	chr7:20167745-20167795	NHDF-neo	bronchial:	n/a
3	chr7:20151424-20151474	Caco-2	colon:	n/a
4	chr7:20179965-20180015	NT2-D1	testis:	n/a
5	chr7:20122468-20122518	HNPCEpiC	eye:	n/a
6	chr7:19961027-19961077	SAEC	small airway:	n/a
7	chr7:19961027-19961077	NH-A	brain:	n/a
8	chr7:20167745-20167795	HEEpiC	esophagus:	n/a
9	chr7:20151424-20151474	SAEC	small airway:	n/a
10	chr7:20167745-20167795	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:20186624-20186674	HCF	heart:	n/a
12	chr7:20158232-20158282	PrEC	prostate:	n/a
13	chr7:20198439-20198489	CMK	blood:	n/a
14	chr7:20153546-20153596	HL-60	blood:	n/a
15	chr7:20192967-20193017	HIPEpiC	eye:	n/a
16	chr7:20153546-20153596	ECC-1	luminal epithelium:	n/a
17	chr7:20198439-20198489	BJ	skin:	n/a
18	chr7:20122468-20122518	BJ	skin:	n/a
19	chr7:20042353-20042403	AG04450	lung:	fetal
20	chr7:20010777-20010827	GM19239	blood:	n/a
21	chr7:19961027-19961077	IMR90	lung:	fetal
22	chr7:20153546-20153596	HIPEpiC	eye:	n/a
23	chr7:20179965-20180015	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:19961027-19961077	BJ	skin:	n/a
25	chr7:20153546-20153596	PFSK-1	brain:	n/a
26	chr7:20151424-20151474	HL-60	blood:	n/a
27	chr7:20167745-20167795	HNPCEpiC	eye:	n/a
28	chr7:20088031-20088081	SK-N-SH_RA	brain:	n/a
29	chr7:19961027-19961077	NB4	blood:	n/a
30	chr7:20088031-20088081	RPTEC	kidney:	n/a
31	chr7:20153546-20153596	NB4	blood:	n/a
32	chr7:20186624-20186674	T-47D	breast:	n/a
33	chr7:20167745-20167795	NT2-D1	testis:	n/a
34	chr7:20122468-20122518	HCPEpiC	choroid plexus:	n/a
35	chr7:20042353-20042403	GM19239	blood:	n/a
36	chr7:20042353-20042403	MCF-7	breast:	n/a
37	chr7:20192967-20193017	NH-A	brain:	n/a
38	chr7:20179965-20180015	SKMC	muscle:	n/a
39	chr7:20198439-20198489	Hela-S3	cervix:	n/a
40	chr7:20153546-20153596	GM19239	blood:	n/a
41	chr7:20151424-20151474	NHDF-neo	bronchial:	n/a
42	chr7:20042353-20042403	SAEC	small airway:	n/a
43	chr7:20122468-20122518	HEEpiC	esophagus:	n/a
44	chr7:20042353-20042403	GM12892	blood:	n/a
45	chr7:20153546-20153596	MCF-7	breast:	n/a
46	chr7:20122468-20122518	HRPEpiC	eye:	n/a
47	chr7:20158232-20158282	ECC-1	luminal epithelium:	n/a
48	chr7:20205176-20205226	GM12891	blood:	n/a
49	chr7:20179965-20180015	HRPEpiC	eye:	n/a
50	chr7:20010777-20010827	HCM	heart:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:20189255..20191346-chr7:20196285..20197999,2	MCF-7	breast:
2	chr7:20152586..20154877-chr7:20155631..20157163,2	MCF-7	breast:
3	chr7:20121987..20124059-chr7:20134924..20137362,2	K562	blood:
4	chr7:20022231..20022930-chr7:20212481..20213023,2	MCF-7	breast:
5	chr7:19953806..19956698-chr7:19965814..19968012,2	K562	blood:
6	chr7:20173250..20175632-chr7:20179049..20180756,2	MCF-7	breast:
7	chr7:20069192..20071216-chr7:20076408..20079057,2	K562	blood:
8	chr7:20070077..20071655-chr7:20071816..20074085,2	MCF-7	breast:
9	chr7:20200792..20205686-chr7:20207397..20209768,4	K562	blood:
10	chr7:20200851..20202539-chr7:20369589..20371143,2	MCF-7	breast:
11	chr7:20191738..20194646-chr7:20199000..20200941,2	K562	blood:
12	chr7:20172487..20174860-chr7:20190238..20192727,2	MCF-7	breast:
13	chr7:20195810..20199499-chr7:20200617..20203279,3	K562	blood:
14	chr7:20196123..20199053-chr7:20229085..20231087,2	K562	blood:
15	chr7:19953806..19956698-chr7:19965814..19968012,2	K562	blood:
16	chr7:20069192..20071216-chr7:20076408..20079057,2	K562	blood:
17	chr7:20200792..20205686-chr7:20207397..20209768,4	K562	blood:
18	chr7:20152586..20154877-chr7:20155631..20157163,2	MCF-7	breast:
19	chr7:19996523..19999289-chr7:20000423..20003780,3	MCF-7	breast:
20	chr7:20166582..20169238-chr7:20171167..20174325,3	MCF-7	breast:
21	chr7:20148615..20151409-chr7:20360084..20361693,2	K562	blood:
22	chr7:20148085..20150893-chr7:20151936..20154173,2	K562	blood:
23	chr7:20172487..20174860-chr7:20190238..20192727,2	MCF-7	breast:
24	chr7:20189255..20191346-chr7:20196285..20197999,2	MCF-7	breast:
25	chr7:20190807..20193238-chr7:20198836..20200941,2	K562	blood:
26	chr7:20202830..20207172-chr7:20207397..20209285,3	K562	blood:
27	chr7:20069778..20072332-chr7:20074470..20077366,2	MCF-7	breast:
28	chr7:20195810..20199499-chr7:20200617..20203279,3	K562	blood:
29	chr7:20156139..20157702-chr7:20175845..20178289,2	K562	blood:
30	chr7:20148085..20150893-chr7:20151936..20154173,2	K562	blood:
31	chr7:20180545..20182095-chr7:20370734..20372483,2	MCF-7	breast:
32	chr7:20069778..20072332-chr7:20074470..20077366,2	MCF-7	breast:
33	chr7:20198052..20198974-chr7:20350812..20351794,4	MCF-7	breast:
34	chr7:20208759..20211471-chr7:20213833..20217349,3	K562	blood:
35	chr7:20070077..20071655-chr7:20071816..20074085,2	MCF-7	breast:
36	chr7:20167789..20169765-chr7:20171281..20173044,2	K562	blood:
37	chr7:20191738..20194646-chr7:20199000..20200941,2	K562	blood:
38	chr13:25257992..25258586-chr7:20179244..20179744,2	MCF-7	breast:
39	chr15:25894038..25896861-chr7:20210562..20213248,2	MCF-7	breast:
40	chr7:20156139..20157702-chr7:20175845..20178289,2	K562	blood:
41	chr7:20167385..20170160-chr7:20174168..20176389,2	K562	blood:
42	chr7:20190807..20193238-chr7:20198836..20200941,2	K562	blood:
43	chr7:20166275..20168966-chr7:20284128..20286671,2	K562	blood:
44	chr7:19996523..19999289-chr7:20000423..20003780,3	MCF-7	breast:
45	chr7:20167385..20170160-chr7:20174168..20176389,2	K562	blood:
46	chr7:20202830..20207172-chr7:20207397..20209285,3	K562	blood:
47	chr7:19973391..19975123-chr7:19986550..19989057,2	MCF-7	breast:
48	chr7:20211103..20214227-chr7:20215882..20218482,3	MCF-7	breast:
49	chr7:20007265..20009765-chr7:20010945..20013296,2	K562	blood:
50	chr7:20180967..20182575-chr7:20182968..20185753,2	K562	blood:

(count:73 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MACC1-1	chr7:20042343-20042467	ENSG00000243004.1
2	lnc-MACC1-1	chr7:20085126-20085184	ENSG00000243004.1
3	lnc-MACC1-1	chr7:19970694-19970921	ENSG00000243004.1
4	lnc-MACC1-1	chr7:20000545-20000617	ENSG00000243004.1
5	lnc-MACC1-1	chr7:19970876-19970921	NONHSAT119395
6	lnc-MACC1-1	chr7:19970876-19970921	ENSG00000243004.1
7	lnc-MACC1-1	chr7:20000545-20000617	NONHSAT119395
8	lnc-MACC1-1	chr7:20000545-20000617	ENSG00000243004.1
9	lnc-MACC1-1	chr7:20068537-20068582	NONHSAT119405
10	lnc-MACC1-1	chr7:20085126-20085544	NONHSAT119405
11	lnc-ITGB8-8	chr7:20169835-20170098	ENSG00000267055.1
12	lnc-ITGB8-9	chr7:20057492-20064037	NONHSAT119404
13	lnc-MACC1-1	chr7:20173547-20173878	ENSG00000243004.1
14	lnc-MACC1-1	chr7:19959489-19960253	NONHSAT119395
15	lnc-ITGB8-8	chr7:20135760-20135849	ENSG00000267055.1
16	lnc-MACC1-1	chr7:20085122-20085189	NONHSAT119395
17	lnc-MACC1-1	chr7:20068542-20068582	ENSG00000243004.1
18	lnc-MACC1-1	chr7:20007760-20008018	NR_110114
19	lnc-MACC1-1	chr7:20085126-20085184	ENSG00000243004.1
20	lnc-TMEM196-3	chr7:20210337-20210404	NONHSAT119410
21	lnc-MACC1-1	chr7:20044812-20044986	NONHSAT119395
22	lnc-MACC1-1	chr7:19958602-19958883	NONHSAT119395
23	lnc-MACC1-1	chr7:19958604-19958883	NR_110114
24	lnc-MACC1-1	chr7:20170536-20170596	ENSG00000243004.1
25	lnc-MACC1-1	chr7:19958823-19958883	ENSG00000243004.1
26	lnc-MACC1-1	chr7:20179940-20180076	ENSG00000243004.1
27	lnc-ITGB8-3	chr7:20190058-20190212	ENSG00000228598.1
28	lnc-MACC1-1	chr7:20179588-20180103	NONHSAT119408
29	lnc-MACC1-1	chr7:20000545-20000617	ENSG00000243004.1
30	lnc-MACC1-1	chr7:20000545-20000617	ENSG00000243004.1
31	lnc-MACC1-1	chr7:20007760-20008018	ENSG00000243004.1
32	lnc-MACC1-1	chr7:19958604-19958883	ENSG00000243004.1
33	lnc-MACC1-1	chr7:20068542-20068582	ENSG00000243004.1
34	lnc-MACC1-1	chr7:20007777-20008018	ENSG00000243004.1
35	lnc-MACC1-1	chr7:20000545-20000617	ENSG00000243004.1
36	lnc-MACC1-1	chr7:20007760-20008018	ENSG00000243004.1
37	lnc-MACC1-1	chr7:20007760-20007860	ENSG00000243004.1
38	lnc-MACC1-1	chr7:20068542-20068582	NONHSAT119395
39	lnc-MACC1-1	chr7:20042343-20042545	ENSG00000243004.1
40	lnc-ITGB8-4	chr7:20178768-20178822	ENSG00000251524
41	lnc-MACC1-1	chr7:20046762-20046975	NONHSAT119395
42	lnc-MACC1-1	chr7:19959489-19959600	ENSG00000243004.1
43	lnc-MACC1-1	chr7:20007777-20008018	ENSG00000243004.1
44	lnc-MACC1-1	chr7:20164703-20164785	ENSG00000243004.1
45	lnc-ITGB8-3	chr7:20187050-20187160	ENSG00000228598.1
46	lnc-MACC1-1	chr7:20085126-20085184	NR_110114
47	lnc-MACC1-1	chr7:20046728-20046975	ENSG00000243004.1
48	lnc-MACC1-1	chr7:20085126-20085184	ENSG00000243004.1
49	lnc-MACC1-1	chr7:20179940-20179997	ENSG00000243004.1
50	lnc-MACC1-1	chr7:20179940-20180049	NR_110114

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MACC1	hsa-miR-143-3p	chr7:20175104-20175124

Variant related genes	Relation type
MACC1-AS1	TF binding region
ENSG00000243004	TF binding region
ENSG00000267055	TF binding region
RPL21P75	TF binding region
MACC1-AS1	CpG island
ENSG00000243004	CpG island
ENSG00000267055	CpG island
RPL21P75	CpG island
ENSG00000105855	chromatin interactions
ENSG00000228598	chromatin interactions
ENSG00000267055	chromatin interactions
ENSG00000243004	chromatin interactions
ENSG00000271133	chromatin interactions
TBC1D20	miRNA target sites

Extended variants
information (count: 12595 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:12595 , 50 per page) page: 1 2 3 4 5 6 7 ... 252

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181453936	chr7:19947308-19947309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368132132	chr7:19947309-19947310	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145398601	chr7:19947354-19947355	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556416099	chr7:19947391-19947392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576271901	chr7:19947410-19947411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565792866	chr7:19947416-19947417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536039061	chr7:19947418-19947419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142552088	chr7:19947420-19947421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575821292	chr7:19947431-19947432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536979532	chr7:19947432-19947433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147589012	chr7:19947435-19947436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74465350	chr7:19947463-19947464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142017979	chr7:19947560-19947561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143072961	chr7:19947592-19947593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574538309	chr7:19947632-19947633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185995413	chr7:19947669-19947670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561507720	chr7:19947677-19947678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189036331	chr7:19947688-19947689	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544610721	chr7:19947749-19947750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386710990	chr7:19947792-19947793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6974266	chr7:19947793-19947794	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547720248	chr7:19947794-19947795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572047884	chr7:19947795-19947796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565731507	chr7:19947827-19947828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115158537	chr7:19947842-19947843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186292682	chr7:19947873-19947874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551770509	chr7:19947880-19947881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370008956	chr7:19947939-19947940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191077402	chr7:19947952-19947953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560169945	chr7:19947965-19947966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374300860	chr7:19947975-19947976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183013730	chr7:19948010-19948011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534326502	chr7:19948011-19948012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116595970	chr7:19948048-19948049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574476959	chr7:19948089-19948090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199507650	chr7:19948156-19948157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186283490	chr7:19948171-19948172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557073284	chr7:19948172-19948173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576584972	chr7:19948187-19948188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114011860	chr7:19948223-19948224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191346581	chr7:19948224-19948225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532884570	chr7:19948255-19948256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372696270	chr7:19948267-19948268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541314822	chr7:19948269-19948270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559354344	chr7:19948271-19948272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13228331	chr7:19948279-19948280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548293162	chr7:19948280-19948281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368810279	chr7:19948300-19948301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530621319	chr7:19948308-19948309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13228531	chr7:19948311-19948312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19036926	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21447729	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1925 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19939400-19955400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:19945400-19947800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr7:19951000-19952200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:19951200-19959800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:19952000-19960000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:19952200-19954600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:19952200-19955000	Weak transcription	NHEK	skin
8	chr7:19954600-19956400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr7:19954800-19956400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:19954800-19973000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:19955000-19956200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:19955000-19956600	Enhancers	NHEK	skin
13	chr7:19955000-19957000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:19955200-19956000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:19955200-19956000	Enhancers	HMEC	breast
16	chr7:19955200-19956000	Enhancers	HSMM	muscle
17	chr7:19955200-19956200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:19955200-19956200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:19955200-19956200	Enhancers	A549	lung
20	chr7:19955200-19956600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:19955200-19958600	Enhancers	HUVEC	blood vessel
22	chr7:19955400-19956000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:19955400-19956200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:19955400-19956400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:19955400-19956400	Enhancers	NHDF-Ad	bronchial
26	chr7:19955600-19956200	Enhancers	NH-A	brain
27	chr7:19955800-19957000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:19956000-19958800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:19956000-19958800	Weak transcription	HMEC	breast
30	chr7:19956000-19959400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:19956000-19959400	Weak transcription	HSMM	muscle
32	chr7:19956200-19958800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:19956200-19959000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:19956200-19959400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:19956200-19960200	Weak transcription	NH-A	brain
36	chr7:19956400-19988000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:19956600-19958400	Weak transcription	NHEK	skin
38	chr7:19956600-19958600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:19957000-19958600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:19957000-19958800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:19958400-19960400	Enhancers	NHEK	skin
42	chr7:19958600-19958800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:19958600-19959000	Flanking Active TSS	HUVEC	blood vessel
44	chr7:19958600-19960000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:19958600-19960800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:19958600-19961200	Enhancers	Fetal Lung	lung
47	chr7:19958800-19959000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:19958800-19959000	Enhancers	HMEC	breast
49	chr7:19958800-19959200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:19958800-19959400	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links