Variant report

Variant	nsv1035069
Chromosome Location	chr7:149559673-149695197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1546)
CpG islands
(count:2259)
Chromatin interactive
region (count:37)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1546 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:149570724-149570796	K562	blood:	n/a	n/a
2	ARID3A	chr7:149569917-149570279	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:149582723-149583399	HepG2	liver:	n/a	n/a
4	ATF2	chr7:149582481-149582971	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr7:149580488-149580895	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr7:149570786-149571273	A549	lung:	n/a	n/a
7	ATF3	chr7:149570878-149571254	K562	blood:	n/a	n/a
8	ATF3	chr7:149570787-149571275	A549	lung:	n/a	n/a
9	ATF3	chr7:149569772-149570122	K562	blood:	n/a	n/a
10	BACH1	chr7:149570143-149571239	K562	blood:	n/a	n/a
11	BACH1	chr7:149570614-149570991	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr7:149580465-149580839	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr7:149672891-149673080	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr7:149618320-149618563	GM12878	blood:	n/a	n/a
15	BATF	chr7:149568705-149569074	GM12878	blood:	n/a	n/a
16	BATF	chr7:149568758-149569093	GM12878	blood:	n/a	n/a
17	BCL3	chr7:149631103-149631404	GM12878	blood:	n/a	n/a
18	BCL3	chr7:149630950-149631218	GM12878	blood:	n/a	n/a
19	BHLHE40	chr7:149567871-149567960	K562	blood:	n/a	n/a
20	BHLHE40	chr7:149570982-149571281	GM12878	blood:	n/a	n/a
21	BHLHE40	chr7:149569534-149570143	HepG2	liver:	n/a	n/a
22	BHLHE40	chr7:149570710-149572354	HepG2	liver:	n/a	n/a
23	BHLHE40	chr7:149570284-149570668	GM12878	blood:	n/a	n/a
24	BHLHE40	chr7:149580418-149581011	K562	blood:	n/a	n/a
25	BHLHE40	chr7:149569494-149571562	K562	blood:	n/a	n/a
26	BRCA1	chr7:149561921-149562021	HepG2	liver:	n/a	n/a
27	BRCA1	chr7:149569691-149570033	HepG2	liver:	n/a	n/a
28	BRCA1	chr7:149571389-149571516	HepG2	liver:	n/a	n/a
29	BRCA1	chr7:149581295-149581426	HepG2	liver:	n/a	n/a
30	BRCA1	chr7:149570995-149571386	GM12878	blood:	n/a	n/a
31	BRCA1	chr7:149571926-149572401	HepG2	liver:	n/a	n/a
32	CBX3	chr7:149569402-149571354	K562	blood:	n/a	n/a
33	CBX3	chr7:149569381-149570140	K562	blood:	n/a	n/a
34	CCNT2	chr7:149570061-149571478	K562	blood:	n/a	n/a
35	CCNT2	chr7:149565719-149565772	K562	blood:	n/a	n/a
36	CEBPB	chr7:149572398-149572529	K562	blood:	n/a	chr7:149572404-149572417
37	CEBPB	chr7:149600641-149600848	A549	lung:	n/a	chr7:149600686-149600697
38	CEBPB	chr7:149569513-149570337	K562	blood:	n/a	n/a
39	CEBPB	chr7:149571848-149572136	HepG2	liver:	n/a	n/a
40	CEBPB	chr7:149564427-149564666	HepG2	liver:	n/a	n/a
41	CEBPB	chr7:149569947-149570077	HepG2	liver:	n/a	n/a
42	CEBPB	chr7:149600657-149600793	K562	blood:	n/a	chr7:149600686-149600697
43	CEBPB	chr7:149667622-149667822	IMR90	lung:	n/a	chr7:149667743-149667754
44	CEBPB	chr7:149615029-149615227	HepG2	liver:	n/a	chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615084-149615093 chr7:149615084-149615093 chr7:149615083-149615094 chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615082-149615093
45	CEBPB	chr7:149571052-149571226	K562	blood:	n/a	n/a
46	CEBPB	chr7:149684147-149684317	H1-hESC	embryonic stem cell:	n/a	chr7:149684215-149684232
47	CEBPB	chr7:149581488-149581752	HepG2	liver:	n/a	chr7:149581616-149581627
48	CEBPB	chr7:149615022-149615161	K562	blood:	n/a	chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615084-149615093 chr7:149615084-149615093 chr7:149615083-149615094 chr7:149615084-149615093 chr7:149615082-149615095 chr7:149615082-149615093
49	CEBPB	chr7:149684039-149684320	K562	blood:	n/a	chr7:149684215-149684232
50	CEBPB	chr7:149667593-149667795	HepG2	liver:	n/a	chr7:149667743-149667754

(count:2259 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149569998-149570048	AG04450	lung:	fetal
2	chr7:149562623-149562673	PANC-1	pancreas:	n/a
3	chr7:149569998-149570048	AG04450	lung:	fetal
4	chr7:149562623-149562673	PANC-1	pancreas:	n/a
5	chr7:149578384-149578434	HIPEpiC	eye:	n/a
6	chr7:149571373-149571423	AG04449	skin:	fetal
7	chr7:149571146-149571196	CMK	blood:	n/a
8	chr7:149567078-149567128	SK-N-MC	brain:	n/a
9	chr7:149570931-149570981	NT2-D1	testis:	n/a
10	chr7:149571094-149571144	MCF10A-Er-Src	breast:	n/a
11	chr7:149568778-149568828	SKMC	muscle:	n/a
12	chr7:149570992-149571042	AG10803	skin:	n/a
13	chr7:149570992-149571042	NHDF-neo	bronchial:	n/a
14	chr7:149570992-149571042	BE2_C	brain:	n/a
15	chr7:149571982-149572032	HEK293	kidney:	embryo
16	chr7:149642580-149642630	NB4	blood:	n/a
17	chr7:149571180-149571230	MCF10A-Er-Src	breast:	n/a
18	chr7:149570183-149570233	GM19239	blood:	n/a
19	chr7:149571146-149571196	Hepatocyte	liver:	n/a
20	chr7:149571094-149571144	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:149571111-149571161	Hepatocyte	liver:	n/a
22	chr7:149568778-149568828	GM12878	blood:	n/a
23	chr7:149571256-149571306	HEEpiC	esophagus:	n/a
24	chr7:149569776-149569826	HCM	heart:	n/a
25	chr7:149571017-149571067	HepG2	liver:	n/a
26	chr7:149570992-149571042	HIPEpiC	eye:	n/a
27	chr7:149571146-149571196	T-47D	breast:	n/a
28	chr7:149562623-149562673	ECC-1	luminal epithelium:	n/a
29	chr7:149582572-149582622	SK-N-MC	brain:	n/a
30	chr7:149571146-149571196	H1-hESC	embryonic stem cell:	embryo
31	chr7:149571180-149571230	HCT-116	colon:	n/a
32	chr7:149578441-149578491	Caco-2	colon:	n/a
33	chr7:149571180-149571230	HCM	heart:	n/a
34	chr7:149571094-149571144	BJ	skin:	n/a
35	chr7:149569946-149569996	HRE	kidney:	n/a
36	chr7:149570931-149570981	BJ	skin:	n/a
37	chr7:149642580-149642630	AG04450	lung:	fetal
38	chr7:149570183-149570233	T-47D	breast:	n/a
39	chr7:149642580-149642630	RPTEC	kidney:	n/a
40	chr7:149571180-149571230	NHBE	bronchial:	n/a
41	chr7:149642580-149642630	IMR90	lung:	fetal
42	chr7:149570071-149570121	CMK	blood:	n/a
43	chr7:149575067-149575117	A549	lung:	n/a
44	chr7:149571982-149572032	ECC-1	luminal epithelium:	n/a
45	chr7:149582572-149582622	ProgFib	skin:	n/a
46	chr7:149571094-149571144	HIPEpiC	eye:	n/a
47	chr7:149571017-149571067	HEEpiC	esophagus:	n/a
48	chr7:149577256-149577306	GM12892	blood:	n/a
49	chr7:149570163-149570213	HCT-116	colon:	n/a
50	chr7:149570128-149570178	H1-hESC	embryonic stem cell:	embryo

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149639335..149639849-chr7:153850966..153851836,2	MCF-7	breast:
2	chr7:149573433..149575641-chr7:149575781..149577952,2	K562	blood:
3	chr7:149559447..149562113-chr7:149563589..149565249,2	MCF-7	breast:
4	chr7:149501055..149503338-chr7:149561332..149564151,2	MCF-7	breast:
5	chr7:149534869..149537140-chr7:149569608..149571872,2	MCF-7	breast:
6	chr7:149561896..149564706-chr7:149568478..149571316,3	MCF-7	breast:
7	chr7:149541998..149544901-chr7:149565491..149567643,2	MCF-7	breast:
8	chr7:149580322..149580844-chr7:149745955..149746566,2	MCF-7	breast:
9	chr7:149565876..149568768-chr7:149569299..149572526,4	MCF-7	breast:
10	chr7:149534427..149538606-chr7:149567610..149571411,8	MCF-7	breast:
11	chr17:7742656..7744593-chr7:149569893..149571765,2	MCF-7	breast:
12	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
13	chr7:149580491..149582159-chr7:149582592..149584410,2	MCF-7	breast:
14	chr7:149545678..149549284-chr7:149555199..149560671,5	K562	blood:
15	chr7:149320936..149323357-chr7:149569430..149571790,2	K562	blood:
16	chr7:149551273..149553341-chr7:149558482..149560143,2	K562	blood:
17	chr7:149543572..149545726-chr7:149561938..149563805,2	K562	blood:
18	chr11:61559545..61560110-chr7:149559085..149559690,2	NB4	blood:
19	chr7:149552958..149556692-chr7:149569431..149572325,5	MCF-7	breast:
20	chr7:149558310..149561559-chr7:149563222..149566237,4	K562	blood:
21	chr7:149561762..149564667-chr7:149569183..149572180,2	MCF-7	breast:
22	chr7:149580491..149582159-chr7:149582592..149584410,2	MCF-7	breast:
23	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:
24	chr7:149570954..149573807-chr7:150065336..150068583,3	MCF-7	breast:
25	chr7:149470006..149471576-chr7:149569800..149572611,2	MCF-7	breast:
26	chr7:149570103..149572096-chr7:150064199..150066897,3	MCF-7	breast:
27	chr7:149570115..149571658-chr7:149574660..149576811,2	MCF-7	breast:
28	chr7:149484191..149484692-chr7:149580431..149580931,2	K562	blood:
29	chr7:149561961..149563986-chr7:149564206..149566986,2	MCF-7	breast:
30	chr7:149545860..149548603-chr7:149560677..149562213,2	MCF-7	breast:
31	chr7:149561961..149563986-chr7:149564206..149566986,2	MCF-7	breast:
32	chr7:149535200..149537036-chr7:149565230..149566898,2	MCF-7	breast:
33	chr7:149570793..149573386-chr7:149577095..149580560,3	K562	blood:
34	chr7:149549543..149551998-chr7:149562107..149563696,2	MCF-7	breast:
35	chr7:149543499..149545502-chr7:149558401..149560374,2	K562	blood:
36	chr7:149555292..149556813-chr7:149559703..149561551,2	K562	blood:
37	chr7:149569895..149574234-chr7:149575186..149579607,5	K562	blood:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF467-1	chr7:149568731-149568885	NONHSAT124073
2	lnc-ZNF467-1	chr7:149570313-149570934	ENSG00000204934
3	lnc-ZNF467-1	chr7:149564861-149566947	ENSG00000204934
4	lnc-ZNF467-1	chr7:149570313-149570951	NONHSAT124073
5	lnc-ZNF862-2	chr7:149571893-149572024	NONHSAT124078
6	lnc-ZNF862-2	chr7:149575767-149575879	NONHSAT124078
7	lnc-ZNF467-1	chr7:149578448-149578669	ENSG00000273293.1
8	lnc-ATP6V0E2-3	chr7:149578553-149579199	NONHSAT124082
9	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
10	lnc-ZNF467-1	chr7:149567331-149567440	NONHSAT124073
11	lnc-ZNF862-2	chr7:149576424-149576631	NONHSAT124078
12	lnc-ZNF467-1	chr7:149567387-149567440	ENSG00000204934
13	lnc-ATP6V0E2-7	chr7:149670980-149671663	l_3505_chr7:149670979-149676122_ovary
14	lnc-ZNF862-2	chr7:149571077-149571258	NONHSAT124076
15	lnc-ZNF467-1	chr7:149570313-149570931	ENSG00000204934
16	lnc-ZNF467-1	chr7:149564786-149566947	ENSG00000204934
17	lnc-ZNF467-3	chr7:149607852-149608064	expReg_chr7_11327_-
18	lnc-ZNF862-2	chr7:149572688-149572734	NONHSAT124076
19	lnc-ZNF862-2	chr7:149576425-149576454	NONHSAT124076
20	lnc-ZNF467-1	chr7:149567331-149567440	ENSG00000204934
21	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
22	lnc-ZNF467-1	chr7:149568731-149568885	ENSG00000204934
23	lnc-ATP6V0E2-4	chr7:149587828-149588505	ENSG00000273011.1
24	lnc-ZNF862-2	chr7:149572687-149572734	NONHSAT124078
25	lnc-ZNF467-1	chr7:149564783-149566947	NONHSAT124073
26	lnc-ZNF467-1	chr7:149577458-149577699	ENSG00000204934
27	lnc-ATP6V0E2-7	chr7:149676088-149676122	l_3505_chr7:149670979-149676122_ovary

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF862	hsa-miR-335-5p	chr7:149562373-149562396

Variant related genes	Relation type
ENSG00000273293	TF binding region
ENSG00000224016	TF binding region
ATP6V0E2-AS1	TF binding region
ENSG00000273011	TF binding region
ATP6V0E2	TF binding region
ENSG00000273419	TF binding region
ENSG00000260555	TF binding region
ENSG00000273293	CpG island
ENSG00000224016	CpG island
ATP6V0E2-AS1	CpG island
ENSG00000273011	CpG island
ATP6V0E2	CpG island
ENSG00000273419	CpG island
ENSG00000260555	CpG island
ENSG00000133624	chromatin interactions
ENSG00000134825	chromatin interactions
ENSG00000273419	chromatin interactions
ENSG00000106479	chromatin interactions
ENSG00000273293	chromatin interactions
ENSG00000171130	chromatin interactions
ENSG00000168496	chromatin interactions
ENSG00000214022	chromatin interactions
ENSG00000207601	chromatin interactions
ENSG00000181444	chromatin interactions
ENSG00000132510	chromatin interactions
ENSG00000196456	chromatin interactions
ENSG00000204934	chromatin interactions
MYO9A	miRNA target sites
HAUS8	miRNA target sites
CCDC47	miRNA target sites
RNF219	miRNA target sites
UBE2W	miRNA target sites
PRR5L	miRNA target sites
SMARCC1	miRNA target sites
SLC26A4	miRNA target sites
HMGA2	miRNA target sites
TAF5	miRNA target sites

Extended variants
information (count: 2952 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2952 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537405019	chr7:149559673-149559674	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs557510234	chr7:149559694-149559695	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567706689	chr7:149559697-149559698	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536456686	chr7:149559720-149559721	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs28369636	chr7:149559782-149559783	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10282470	chr7:149559807-149559808	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2074702	chr7:149559839-149559840	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs558810427	chr7:149559841-149559842	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569417613	chr7:149559848-149559849	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574910988	chr7:149559900-149559901	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148306931	chr7:149559920-149559921	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183471627	chr7:149559931-149559932	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529837297	chr7:149559992-149559993	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539947817	chr7:149560031-149560032	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368338416	chr7:149560052-149560053	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6464035	chr7:149560072-149560073	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs188107934	chr7:149560074-149560075	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575368167	chr7:149560101-149560102	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576519170	chr7:149560126-149560127	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115134262	chr7:149560127-149560128	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530929850	chr7:149560158-149560159	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550913654	chr7:149560171-149560172	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567546016	chr7:149560187-149560188	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545871232	chr7:149560197-149560198	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546756979	chr7:149560198-149560199	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566758338	chr7:149560257-149560258	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148171241	chr7:149560267-149560268	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538814301	chr7:149560318-149560319	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10270385	chr7:149560348-149560349	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs181011717	chr7:149560350-149560351	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141461991	chr7:149560388-149560389	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576843051	chr7:149560431-149560432	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs111689102	chr7:149560443-149560444	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574328943	chr7:149560444-149560445	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs367607158	chr7:149560463-149560464	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540354767	chr7:149560465-149560466	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138777402	chr7:149560466-149560467	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs564826017	chr7:149560474-149560475	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532272607	chr7:149560475-149560476	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577131483	chr7:149560479-149560480	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11376862	chr7:149560494-149560495	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545972645	chr7:149560575-149560576	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs111858270	chr7:149560593-149560594	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573999231	chr7:149560608-149560609	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs559551246	chr7:149560686-149560687	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183891017	chr7:149560702-149560703	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189718303	chr7:149560713-149560714	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546974111	chr7:149560716-149560717	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375231358	chr7:149560742-149560743	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181652433	chr7:149560763-149560764	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1544 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149540000-149569600	Weak transcription	Psoas Muscle	Psoas
2	chr7:149542600-149561800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:149543000-149569600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:149552200-149569400	Weak transcription	Fetal Kidney	kidney
5	chr7:149552800-149561400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:149552800-149564800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:149552800-149569600	Weak transcription	NHDF-Ad	bronchial
8	chr7:149552800-149569800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:149553000-149567400	Weak transcription	NHLF	lung
10	chr7:149553000-149567800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:149553000-149568800	Weak transcription	HSMMtube	muscle
12	chr7:149553200-149564200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:149553200-149569600	Weak transcription	HSMM	muscle
14	chr7:149553200-149569800	Weak transcription	Right Atrium	heart
15	chr7:149553400-149569800	Weak transcription	Small Intestine	intestine
16	chr7:149553600-149560400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:149553600-149564000	Strong transcription	Aorta	Aorta
18	chr7:149554000-149563400	Weak transcription	Fetal Heart	heart
19	chr7:149554600-149562600	Genic enhancers	Fetal Thymus	thymus
20	chr7:149554800-149560000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:149554800-149561200	Strong transcription	Primary B cells from cord blood	blood
22	chr7:149554800-149563200	Strong transcription	Placenta	Placenta
23	chr7:149554800-149565400	Strong transcription	Brain Anterior Caudate	brain
24	chr7:149555000-149563200	Strong transcription	Fetal Stomach	stomach
25	chr7:149555000-149565200	Strong transcription	Fetal Muscle Leg	muscle
26	chr7:149555200-149559800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:149555200-149560600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:149555200-149562600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr7:149555600-149562600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:149555600-149564000	Strong transcription	Brain Cingulate Gyrus	brain
31	chr7:149555600-149564000	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:149555600-149565000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr7:149555800-149562600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:149555800-149566600	Strong transcription	Fetal Intestine Small	intestine
35	chr7:149556000-149568800	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr7:149556200-149560000	Strong transcription	Rectal Smooth Muscle	rectum
37	chr7:149556200-149561200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:149556200-149563400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:149556200-149563600	Strong transcription	Esophagus	oesophagus
40	chr7:149556200-149565200	Strong transcription	Brain Hippocampus Middle	brain
41	chr7:149556200-149565600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:149556400-149559800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr7:149556400-149559800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:149556400-149560000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr7:149556400-149560000	Strong transcription	Colonic Mucosa	Colon
46	chr7:149556400-149560000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr7:149556400-149560200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:149556400-149560200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:149556400-149561000	Strong transcription	Dnd41	blood
50	chr7:149556400-149561400	Strong transcription	Spleen	Spleen

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