Variant report

Variant	nsv433070
Chromosome Location	chr7:38271544-38358728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1026)
CpG islands
(count:2137)
Chromatin interactive
region (count:42)
LncRNA
region (count:33)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:38298340-38298378	K562	blood:	n/a	n/a
2	ARID3A	chr7:38333909-38333936	HepG2	liver:	n/a	n/a
3	ATF1	chr7:38278820-38279001	K562	blood:	n/a	n/a
4	ATF1	chr7:38285866-38286066	K562	blood:	n/a	n/a
5	ATF1	chr7:38298851-38299117	K562	blood:	n/a	n/a
6	ATF1	chr7:38358478-38358765	K562	blood:	n/a	n/a
7	ATF1	chr7:38296748-38296967	K562	blood:	n/a	n/a
8	ATF1	chr7:38285408-38285488	K562	blood:	n/a	n/a
9	ATF1	chr7:38319668-38320070	K562	blood:	n/a	n/a
10	ATF1	chr7:38332074-38332345	K562	blood:	n/a	n/a
11	ATF2	chr7:38289493-38289850	GM12878	blood:	n/a	n/a
12	ATF2	chr7:38272159-38273003	GM12878	blood:	n/a	n/a
13	ATF2	chr7:38358345-38358831	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr7:38272501-38272927	GM12878	blood:	n/a	n/a
15	BATF	chr7:38335625-38335952	GM12878	blood:	n/a	n/a
16	BATF	chr7:38305659-38305874	GM12878	blood:	n/a	n/a
17	BATF	chr7:38305616-38305913	GM12878	blood:	n/a	n/a
18	BATF	chr7:38289510-38289833	GM12878	blood:	n/a	n/a
19	BATF	chr7:38289507-38289847	GM12878	blood:	n/a	n/a
20	BATF	chr7:38335608-38335962	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:38289452-38289744	GM12878	blood:	n/a	chr7:38289640-38289649
22	BCL11A	chr7:38272695-38272971	GM12878	blood:	n/a	n/a
23	BCL11A	chr7:38305548-38305926	GM12878	blood:	n/a	n/a
24	BCL11A	chr7:38335675-38335915	GM12878	blood:	n/a	n/a
25	BCL11A	chr7:38289442-38289823	GM12878	blood:	n/a	chr7:38289640-38289649
26	BCL11A	chr7:38305612-38305832	GM12878	blood:	n/a	n/a
27	BCL11A	chr7:38335645-38335867	GM12878	blood:	n/a	n/a
28	BCLAF1	chr7:38272519-38273060	GM12878	blood:	n/a	n/a
29	BCLAF1	chr7:38272578-38273119	GM12878	blood:	n/a	n/a
30	BHLHE40	chr7:38351090-38351531	K562	blood:	n/a	n/a
31	BHLHE40	chr7:38335593-38335955	GM12878	blood:	n/a	n/a
32	BHLHE40	chr7:38358558-38358736	K562	blood:	n/a	n/a
33	BHLHE40	chr7:38339818-38340010	K562	blood:	n/a	n/a
34	BHLHE40	chr7:38330740-38331111	K562	blood:	n/a	n/a
35	BHLHE40	chr7:38313008-38313126	K562	blood:	n/a	n/a
36	BHLHE40	chr7:38272392-38272980	GM12878	blood:	n/a	n/a
37	BHLHE40	chr7:38351349-38351381	GM12878	blood:	n/a	n/a
38	BHLHE40	chr7:38330775-38331007	HepG2	liver:	n/a	n/a
39	CBX3	chr7:38350978-38351579	K562	blood:	n/a	n/a
40	CCNT2	chr7:38350861-38351244	K562	blood:	n/a	n/a
41	CEBPB	chr7:38282969-38283326	HepG2	liver:	n/a	n/a
42	CEBPB	chr7:38357963-38358244	ECC-1	luminal epithelium:	n/a	chr7:38358095-38358108
43	CEBPB	chr7:38282956-38283330	IMR90	lung:	n/a	n/a
44	CEBPB	chr7:38321761-38322047	K562	blood:	n/a	chr7:38321909-38321920
45	CEBPB	chr7:38285344-38285395	K562	blood:	n/a	n/a
46	CEBPB	chr7:38330530-38330719	K562	blood:	n/a	n/a
47	CEBPB	chr7:38282932-38283307	K562	blood:	n/a	chr7:38282939-38282951
48	CEBPB	chr7:38282958-38283308	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr7:38282943-38283333	K562	blood:	n/a	n/a
50	CEBPB	chr7:38321770-38322083	HepG2	liver:	n/a	chr7:38321909-38321920

(count:2137 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:38316654-38316704	Hela-S3	cervix:	n/a
2	chr7:38351468-38351518	IMR90	lung:	fetal
3	chr7:38316654-38316704	Hela-S3	cervix:	n/a
4	chr7:38351468-38351518	IMR90	lung:	fetal
5	chr7:38312366-38312416	A549	lung:	n/a
6	chr7:38357047-38357097	GM12891	blood:	n/a
7	chr7:38358683-38358733	HL-60	blood:	n/a
8	chr7:38298966-38299016	LNCaP	prostate:	n/a
9	chr7:38356729-38356779	GM12891	blood:	n/a
10	chr7:38350938-38350988	GM12892	blood:	n/a
11	chr7:38358429-38358479	HCPEpiC	choroid plexus:	n/a
12	chr7:38348929-38348979	PANC-1	pancreas:	n/a
13	chr7:38312366-38312416	NHBE	bronchial:	n/a
14	chr7:38331753-38331803	BE2_C	brain:	n/a
15	chr7:38351226-38351276	SKMC	muscle:	n/a
16	chr7:38315964-38316014	ECC-1	luminal epithelium:	n/a
17	chr7:38312366-38312416	BE2_C	brain:	n/a
18	chr7:38316654-38316704	HEEpiC	esophagus:	n/a
19	chr7:38348929-38348979	HepG2	liver:	n/a
20	chr7:38351226-38351276	SK-N-MC	brain:	n/a
21	chr7:38351226-38351276	NHBE	bronchial:	n/a
22	chr7:38357684-38357734	GM06990	blood:	n/a
23	chr7:38358683-38358733	Hela-S3	cervix:	n/a
24	chr7:38340103-38340153	AG10803	skin:	n/a
25	chr7:38358683-38358733	H1-hESC	embryonic stem cell:	embryo
26	chr7:38351094-38351144	GM12878	blood:	n/a
27	chr7:38296393-38296443	AG10803	skin:	n/a
28	chr7:38309984-38310034	GM12892	blood:	n/a
29	chr7:38332633-38332683	PrEC	prostate:	n/a
30	chr7:38298966-38299016	GM06990	blood:	n/a
31	chr7:38298966-38299016	Jurkat	blood:	n/a
32	chr7:38356808-38356858	HEEpiC	esophagus:	n/a
33	chr7:38344934-38344984	H1-hESC	embryonic stem cell:	embryo
34	chr7:38350464-38350514	SK-N-MC	brain:	n/a
35	chr7:38347775-38347825	HAEpiC	amniotic membrane:	n/a
36	chr7:38298908-38298958	IMR90	lung:	fetal
37	chr7:38350938-38350988	PANC-1	pancreas:	n/a
38	chr7:38344983-38345033	AG10803	skin:	n/a
39	chr7:38347775-38347825	HEK293	kidney:	embryo
40	chr7:38356865-38356915	AG10803	skin:	n/a
41	chr7:38294113-38294163	NHDF-neo	bronchial:	n/a
42	chr7:38309984-38310034	AG09319	gingival:	n/a
43	chr7:38294113-38294163	NH-A	brain:	n/a
44	chr7:38350938-38350988	HMEC	breast:	n/a
45	chr7:38356808-38356858	NHDF-neo	bronchial:	n/a
46	chr7:38357047-38357097	BJ	skin:	n/a
47	chr7:38294113-38294163	HL-60	blood:	n/a
48	chr7:38309984-38310034	AG09309	skin:	n/a
49	chr7:38309984-38310034	SAEC	small airway:	n/a
50	chr7:38347775-38347825	SK-N-SH_RA	brain:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:38309718..38312267-chr7:38320422..38323270,2	MCF-7	breast:
2	chr7:38316692..38319374-chr7:38324142..38325804,2	MCF-7	breast:
3	chr7:38272138..38275044-chr7:38351799..38354206,2	K562	blood:
4	chr7:38269978..38272526-chr7:38377435..38379545,2	K562	blood:
5	chr11:93474211..93474958-chr7:38350865..38351599,2	NB4	blood:
6	chr7:38262524..38265185-chr7:38273332..38275255,2	K562	blood:
7	chr7:38312675..38315674-chr7:38326850..38329772,2	K562	blood:
8	chr7:38342202..38344316-chr7:38351382..38353535,2	K562	blood:
9	chr7:38320521..38322943-chr7:38347615..38349997,2	K562	blood:
10	chr4:10118970..10119677-chr7:38276136..38276938,2	NB4	blood:
11	chr7:38342202..38344316-chr7:38351382..38353535,2	K562	blood:
12	chr7:38337293..38339358-chr7:38341457..38343029,2	K562	blood:
13	chr7:38272138..38275044-chr7:38351799..38354206,2	K562	blood:
14	chr7:38333908..38338085-chr7:38338653..38341388,3	K562	blood:
15	chr7:38338259..38344316-chr7:38349234..38354817,8	K562	blood:
16	chr7:38350855..38351410-chr9:4679053..4679680,2	NB4	blood:
17	chr7:38263678..38267697-chr7:38270258..38274189,5	K562	blood:
18	chr7:38325300..38328102-chr7:38356981..38359031,2	K562	blood:
19	chr7:38350491..38353138-chr7:38373860..38375500,2	K562	blood:
20	chr7:38322069..38325279-chr7:38325414..38329966,4	K562	blood:
21	chr7:38316692..38319374-chr7:38324142..38325804,2	MCF-7	breast:
22	chr7:38327903..38329443-chr7:38331082..38333824,2	MCF-7	breast:
23	chr7:38268526..38271338-chr7:38351636..38353674,2	K562	blood:
24	chr5:139487048..139487856-chr7:38339265..38339924,2	NB4	blood:
25	chr7:38322069..38325279-chr7:38325414..38329966,4	K562	blood:
26	chr7:38145396..38146142-chr7:38358527..38359113,2	MCF-7	breast:
27	chr7:38333908..38338085-chr7:38338653..38341388,3	K562	blood:
28	chr19:47892610..47893302-chr7:38314653..38315604,2	NB4	blood:
29	chr7:38337293..38339358-chr7:38341457..38343029,2	K562	blood:
30	chr7:38350441..38353889-chr7:38368470..38373744,5	K562	blood:
31	chr7:38329299..38330977-chr7:38349932..38352366,2	K562	blood:
32	chr7:38301028..38303453-chr7:38304151..38306717,2	K562	blood:
33	chr7:38338259..38344316-chr7:38349234..38354817,8	K562	blood:
34	chr5:150068580..150069370-chr7:38338298..38339028,2	NB4	blood:
35	chr6:31583767..31584372-chr7:38349943..38350554,2	NB4	blood:
36	chr7:38338259..38341713-chr7:38349234..38353582,4	K562	blood:
37	chr7:38357958..38360447-chr7:38360808..38363317,4	K562	blood:
38	chr7:37940728..37941537-chr7:38358496..38359055,2	MCF-7	breast:
39	chr7:38320521..38322943-chr7:38347615..38349997,2	K562	blood:
40	chr7:38338259..38341713-chr7:38349234..38353582,4	K562	blood:
41	chr7:38350491..38352001-chr7:38373860..38376555,2	K562	blood:
42	chr7:38309718..38312267-chr7:38320422..38323270,2	MCF-7	breast:

(count:33 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMPH-9	chr7:38305937-38306406	ucscGeneNc_uc003tgl_1
2	lnc-AMPH-10	chr7:38292981-38293028	NONHSAT120161
3	lnc-AMPH-2	chr7:38343487-38343773	NONHSAT120173
4	lnc-STARD3NL-1	chr7:38347741-38347925	ucscGeneNc_uc003tgp_1
5	lnc-AMPH-10	chr7:38356621-38356709	NONHSAT120162
6	lnc-STARD3NL-1	chr7:38356472-38356576	ucscGeneNc_uc003tgp_1
7	lnc-AMPH-10	chr7:38356605-38356709	NONHSAT120166
8	lnc-AMPH-10	chr7:38289106-38289173	NONHSAT120166
9	lnc-AMPH-10	chr7:38356616-38356709	NONHSAT120169
10	lnc-AMPH-2	chr7:38343487-38343773	ENSG00000244971
11	lnc-AMPH-10	chr7:38289105-38289173	NONHSAT120162
12	lnc-AMPH-10	chr7:38313188-38313238	NONHSAT120169
13	lnc-AMPH-10	chr7:38295939-38295993	NONHSAT120166
14	lnc-AMPH-10	chr7:38356621-38356709	NONHSAT120161
15	lnc-AMPH-2	chr7:38342349-38343224	NONHSAT120173
16	lnc-AMPH-10	chr7:38289106-38289173	NONHSAT120167
17	lnc-AMPH-8	chr7:38335364-38335834	NONHSAT120172
18	lnc-AMPH-10	chr7:38292981-38293025	NONHSAT120162
19	lnc-AMPH-10	chr7:38308874-38309749	ucscGeneNc_uc003tgm_1
20	lnc-AMPH-2	chr7:38342383-38343224	ENSG00000244971
21	lnc-AMPH-2	chr7:38344265-38345247	ENSG00000244971
22	lnc-AMPH-10	chr7:38305211-38305279	NONHSAT120170
23	lnc-AMPH-10	chr7:38310012-38310298	ucscGeneNc_uc003tgm_1
24	lnc-AMPH-10	chr7:38310790-38310903	ucscGeneNc_uc003tgm_1
25	lnc-AMPH-2	chr7:38344265-38344378	NONHSAT120173
26	lnc-AMPH-10	chr7:38356622-38356709	NONHSAT120167
27	lnc-AMPH-10	chr7:38289105-38289173	NONHSAT120161
28	lnc-AMPH-10	chr7:38293236-38293239	NONHSAT120162
29	lnc-AMPH-10	chr7:38313188-38313242	NONHSAT120170
30	lnc-AMPH-10	chr7:38295939-38296001	NONHSAT120167
31	lnc-AMPH-10	chr7:38356623-38356709	NONHSAT120170
32	lnc-AMPH-10	chr7:38305211-38305279	NONHSAT120169
33	lnc-STARD3NL-1	chr7:38352147-38352253	ucscGeneNc_uc003tgp_1

No data

Variant related genes	Relation type
TRGC2	TF binding region
TRGC1	TF binding region
TRGJP	TF binding region
TRGJP2	TF binding region
TRGV10	TF binding region
TRGV11	TF binding region
TRGJ2	TF binding region
TRGVB	TF binding region
TRGJP1	TF binding region
TRGJ1	TF binding region
ENSG00000231916	TF binding region
TRGV9	TF binding region
TRGC2	CpG island
TRGC1	CpG island
TRGJP	CpG island
TRGJP2	CpG island
TRGV10	CpG island
TRGV11	CpG island
TRGJ2	CpG island
TRGVB	CpG island
TRGJP1	CpG island
TRGJ1	CpG island
ENSG00000231916	CpG island
TRGV9	CpG island
ENSG00000211695	chromatin interactions
ENSG00000225992	chromatin interactions
ENSG00000211693	chromatin interactions
ENSG00000272908	chromatin interactions
ENSG00000211689	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000245146	chromatin interactions
ENSG00000231202	chromatin interactions
ENSG00000204472	chromatin interactions
ENSG00000273061	chromatin interactions
ENSG00000231916	chromatin interactions
ENSG00000211691	chromatin interactions
ENSG00000106993	chromatin interactions
ENSG00000185129	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000249978	chromatin interactions
ENSG00000211696	chromatin interactions
ENSG00000211694	chromatin interactions
PTEN	miRNA target sites

Extended variants
information (count: 4026 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4026 , 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	rs6978770	chr7:38271544-38271545	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141907693	chr7:38271549-38271550	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147085885	chr7:38271556-38271557	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138484418	chr7:38271601-38271602	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552181674	chr7:38271619-38271620	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191890543	chr7:38271707-38271708	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539470346	chr7:38271805-38271806	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143475101	chr7:38271837-38271838	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184174005	chr7:38271845-38271846	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35911146	chr7:38271902-38271903	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs70975085	chr7:38271904-38271905	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145894356	chr7:38271932-38271933	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562260642	chr7:38271937-38271938	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543192351	chr7:38271955-38271956	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572682910	chr7:38271958-38271959	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80320640	chr7:38271973-38271974	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564188167	chr7:38271974-38271975	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77251548	chr7:38271978-38271979	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371755270	chr7:38272007-38272008	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369418597	chr7:38272015-38272016	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543030879	chr7:38272043-38272044	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs563330811	chr7:38272077-38272078	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs374932999	chr7:38272083-38272084	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546592343	chr7:38272109-38272110	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138363670	chr7:38272165-38272166	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs565497916	chr7:38272190-38272191	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs34385844	chr7:38272302-38272303	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535523637	chr7:38272319-38272320	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117541883	chr7:38272357-38272358	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377278335	chr7:38272362-38272363	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149241664	chr7:38272367-38272368	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144458337	chr7:38272368-38272369	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188225699	chr7:38272404-38272405	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193174674	chr7:38272471-38272472	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369955666	chr7:38272508-38272509	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183977345	chr7:38272514-38272515	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569465831	chr7:38272518-38272519	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6966388	chr7:38272564-38272565	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556108359	chr7:38272588-38272589	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148478654	chr7:38272593-38272594	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547972206	chr7:38272667-38272668	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541670049	chr7:38272669-38272670	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79832492	chr7:38272694-38272695	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558126624	chr7:38272708-38272709	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142671150	chr7:38272733-38272734	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78374482	chr7:38272773-38272774	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563135181	chr7:38272792-38272793	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199598902	chr7:38272803-38272804	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200632242	chr7:38272807-38272808	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs3217071	chr7:38272823-38272824	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Multiple sclerosis	20428171	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Neuroblastoma	19536264	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1139 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38252000-38272400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:38252000-38273000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:38255400-38271800	Weak transcription	Small Intestine	intestine
4	chr7:38259600-38273800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:38260400-38271600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:38260400-38273800	Weak transcription	Fetal Brain Male	brain
7	chr7:38261600-38274800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:38261600-38277200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:38262600-38271600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:38263000-38272800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:38264600-38271800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:38265600-38273000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:38266000-38272200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:38266200-38273000	Strong transcription	Left Ventricle	heart
15	chr7:38266400-38272000	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:38267000-38272000	Weak transcription	Colonic Mucosa	Colon
17	chr7:38267200-38272200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr7:38268800-38272000	Strong transcription	Fetal Intestine Small	intestine
19	chr7:38268800-38272200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:38268800-38272400	Strong transcription	Fetal Muscle Leg	muscle
21	chr7:38269000-38273000	Strong transcription	Fetal Stomach	stomach
22	chr7:38269000-38273000	Strong transcription	Lung	lung
23	chr7:38269200-38271600	Weak transcription	Primary T cells from cord blood	blood
24	chr7:38269200-38272400	Weak transcription	K562	blood
25	chr7:38269400-38272000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:38269600-38271800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:38269600-38272800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:38269600-38273000	Weak transcription	Spleen	Spleen
29	chr7:38269600-38273400	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:38269600-38273800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:38269600-38274400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:38269600-38274400	Weak transcription	Brain Germinal Matrix	brain
33	chr7:38269800-38271600	Weak transcription	Fetal Brain Female	brain
34	chr7:38269800-38271600	Weak transcription	HSMMtube	muscle
35	chr7:38269800-38272400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:38269800-38272400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr7:38269800-38273200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:38269800-38273400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:38269800-38273600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:38269800-38273800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:38269800-38273800	Weak transcription	NH-A	brain
42	chr7:38269800-38274400	Weak transcription	Esophagus	oesophagus
43	chr7:38269800-38275400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:38269800-38275600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:38269800-38275600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:38270000-38271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:38270000-38271600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:38270000-38272000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:38270000-38272400	Weak transcription	Primary B cells from cord blood	blood
50	chr7:38270000-38273600	Weak transcription	Gastric	stomach

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