Variant report

Variant	nsv870193
Chromosome Location	chr2:133036817-133127581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2272)
CpG islands
(count:2385)
Chromatin interactive
region (count:79)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2272 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:133106714-133106906	K562	blood:	n/a	n/a
2	ARID3A	chr2:133037976-133039294	K562	blood:	n/a	n/a
3	ARID3A	chr2:133041164-133041233	K562	blood:	n/a	n/a
4	ARID3A	chr2:133104731-133105317	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:133104760-133104980	K562	blood:	n/a	n/a
6	ARID3A	chr2:133054449-133054600	K562	blood:	n/a	n/a
7	ARID3A	chr2:133044459-133044810	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:133094781-133094937	K562	blood:	n/a	n/a
9	ATF1	chr2:133094721-133095082	K562	blood:	n/a	n/a
10	ATF1	chr2:133076152-133076243	K562	blood:	n/a	n/a
11	ATF1	chr2:133044238-133044806	K562	blood:	n/a	n/a
12	ATF1	chr2:133104740-133105152	K562	blood:	n/a	n/a
13	ATF1	chr2:133062156-133062328	K562	blood:	n/a	n/a
14	ATF3	chr2:133110083-133110524	A549	lung:	n/a	n/a
15	ATF3	chr2:133038452-133039263	A549	lung:	n/a	n/a
16	ATF3	chr2:133062218-133062459	K562	blood:	n/a	n/a
17	ATF3	chr2:133038024-133038380	A549	lung:	n/a	n/a
18	ATF3	chr2:133094797-133095064	K562	blood:	n/a	n/a
19	BACH1	chr2:133094866-133095024	K562	blood:	n/a	n/a
20	BACH1	chr2:133037975-133038352	K562	blood:	n/a	n/a
21	BACH1	chr2:133038591-133039338	K562	blood:	n/a	n/a
22	BACH1	chr2:133095514-133095827	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr2:133095528-133095811	K562	blood:	n/a	n/a
24	BACH1	chr2:133044449-133044811	K562	blood:	n/a	n/a
25	BACH1	chr2:133037360-133037562	K562	blood:	n/a	n/a
26	BATF	chr2:133111916-133112116	GM12878	blood:	n/a	n/a
27	BATF	chr2:133045137-133045372	GM12878	blood:	n/a	n/a
28	BATF	chr2:133044286-133044981	GM12878	blood:	n/a	n/a
29	BATF	chr2:133111906-133112456	GM12878	blood:	n/a	n/a
30	BATF	chr2:133043714-133044264	GM12878	blood:	n/a	n/a
31	BATF	chr2:133038469-133038779	GM12878	blood:	n/a	n/a
32	BATF	chr2:133045157-133045371	GM12878	blood:	n/a	n/a
33	BATF	chr2:133038557-133038728	GM12878	blood:	n/a	n/a
34	BATF	chr2:133044268-133045097	GM12878	blood:	n/a	n/a
35	BATF	chr2:133119317-133119527	GM12878	blood:	n/a	n/a
36	BATF	chr2:133112616-133112878	GM12878	blood:	n/a	n/a
37	BATF	chr2:133043145-133043307	GM12878	blood:	n/a	n/a
38	BATF	chr2:133112628-133112887	GM12878	blood:	n/a	n/a
39	BATF	chr2:133043048-133043372	GM12878	blood:	n/a	n/a
40	BATF	chr2:133116001-133116199	GM12878	blood:	n/a	n/a
41	BCL11A	chr2:133111247-133111451	GM12878	blood:	n/a	chr2:133111306-133111319
42	BCL11A	chr2:133111906-133112137	GM12878	blood:	n/a	n/a
43	BCL11A	chr2:133038501-133038811	GM12878	blood:	n/a	n/a
44	BCL11A	chr2:133044325-133045014	GM12878	blood:	n/a	n/a
45	BCL11A	chr2:133038546-133038757	GM12878	blood:	n/a	n/a
46	BCL11A	chr2:133112627-133112889	GM12878	blood:	n/a	n/a
47	BCL11A	chr2:133043716-133045089	GM12878	blood:	n/a	n/a
48	BCL11A	chr2:133045125-133045630	GM12878	blood:	n/a	n/a
49	BCL11A	chr2:133041259-133041580	GM12878	blood:	n/a	n/a
50	BCL11A	chr2:133111931-133112298	GM12878	blood:	n/a	n/a

(count:2385 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133111053-133111103	HL-60	blood:	n/a
2	chr2:133039152-133039202	IMR90	lung:	fetal
3	chr2:133110927-133110977	HCM	heart:	n/a
4	chr2:133110427-133110477	AG10803	skin:	n/a
5	chr2:133038927-133038977	T-47D	breast:	n/a
6	chr2:133062284-133062334	SK-N-MC	brain:	n/a
7	chr2:133111053-133111103	HL-60	blood:	n/a
8	chr2:133039152-133039202	IMR90	lung:	fetal
9	chr2:133110927-133110977	HCM	heart:	n/a
10	chr2:133110427-133110477	AG10803	skin:	n/a
11	chr2:133038927-133038977	T-47D	breast:	n/a
12	chr2:133062284-133062334	SK-N-MC	brain:	n/a
13	chr2:133105045-133105095	HAEpiC	amniotic membrane:	n/a
14	chr2:133036873-133036923	GM12892	blood:	n/a
15	chr2:133110427-133110477	CMK	blood:	n/a
16	chr2:133062405-133062455	AoSMC	blood vessel:	n/a
17	chr2:133036935-133036985	ProgFib	skin:	n/a
18	chr2:133037006-133037056	SAEC	small airway:	n/a
19	chr2:133105420-133105470	H1-hESC	embryonic stem cell:	embryo
20	chr2:133037153-133037203	HepG2	liver:	n/a
21	chr2:133110427-133110477	HAEpiC	amniotic membrane:	n/a
22	chr2:133037546-133037596	CMK	blood:	n/a
23	chr2:133037057-133037107	ProgFib	skin:	n/a
24	chr2:133105045-133105095	IMR90	lung:	fetal
25	chr2:133110927-133110977	SK-N-SH	brain:	n/a
26	chr2:133066472-133066522	U87	brain:	n/a
27	chr2:133036873-133036923	HUVEC	blood vessel:	n/a
28	chr2:133118705-133118755	HRPEpiC	eye:	n/a
29	chr2:133115033-133115083	AG04450	lung:	fetal
30	chr2:133038669-133038719	AG04450	lung:	fetal
31	chr2:133038912-133038962	HEEpiC	esophagus:	n/a
32	chr2:133115033-133115083	GM12892	blood:	n/a
33	chr2:133090122-133090172	K562	blood:	n/a
34	chr2:133036873-133036923	Hela-S3	cervix:	n/a
35	chr2:133038261-133038311	HPAEpiC	pulmonary alveolar:	n/a
36	chr2:133118667-133118717	HAEpiC	amniotic membrane:	n/a
37	chr2:133038261-133038311	HIPEpiC	eye:	n/a
38	chr2:133110927-133110977	AG04449	skin:	fetal
39	chr2:133118705-133118755	AG10803	skin:	n/a
40	chr2:133118667-133118717	A549	lung:	n/a
41	chr2:133039083-133039133	BE2_C	brain:	n/a
42	chr2:133037636-133037686	H1-hESC	embryonic stem cell:	embryo
43	chr2:133037153-133037203	GM19239	blood:	n/a
44	chr2:133038669-133038719	PANC-1	pancreas:	n/a
45	chr2:133036873-133036923	Hepatocyte	liver:	n/a
46	chr2:133104748-133104798	GM12891	blood:	n/a
47	chr2:133038669-133038719	AG04449	skin:	fetal
48	chr2:133118667-133118717	SK-N-SH_RA	brain:	n/a
49	chr2:133105045-133105095	LNCaP	prostate:	n/a
50	chr2:133039152-133039202	AoSMC	blood vessel:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:44859654..44861763-chr2:133102344..133104670,2	K562	blood:
2	chr1:91851302..91853083-chr2:133035035..133039055,6	K562	blood:
3	chr2:133106208..133106974-chr2:133928762..133929385,2	MCF-7	breast:
4	chr1:108113122..108115024-chr2:133036001..133038158,2	K562	blood:
5	chr19:44895650..44897507-chr2:133068550..133071124,2	MCF-7	breast:
6	chr2:133036134..133038165-chr21:9825266..9827266,2	K562	blood:
7	chr2:133106377..133107304-chr20:29611507..29612208,2	MCF-7	breast:
8	chr2:133034652..133037532-chr8:82753267..82756202,5	MCF-7	breast:
9	chr17:31149835..31151349-chr2:133035877..133037511,2	MCF-7	breast:
10	chr2:133035583..133038926-chr2:230044088..230047023,3	K562	blood:
11	chr2:133106413..133107377-chr2:133181739..133182675,3	MCF-7	breast:
12	chr2:133106605..133107151-chr2:133206153..133207006,2	MCF-7	breast:
13	chr2:133038935..133039656-chr8:56754719..56755312,2	MCF-7	breast:
14	chr2:133106241..133106888-chr2:134318328..134318856,2	K562	blood:
15	chr2:133042500..133043310-chr2:162134708..162135564,2	MCF-7	breast:
16	chr17:31149756..31151304-chr2:133036010..133037634,2	MCF-7	breast:
17	chr2:133036060..133038050-chrX:108295932..108297713,2	K562	blood:
18	chr2:133011942..133013448-chr2:133036648..133038896,2	K562	blood:
19	chr2:120288604..120289171-chr2:133037653..133038211,2	MCF-7	breast:
20	chr19:44860583..44861870-chr2:133104308..133105302,7	Hela-S3	cervix:
21	chr2:133037674..133038178-chr21:9826291..9827058,2	MCF-7	breast:
22	chr19:24184114..24184636-chr2:133038429..133039143,2	MCF-7	breast:
23	chr2:133104482..133106618-chr2:133108927..133110502,2	MCF-7	breast:
24	chr2:133104188..133106579-chr2:133112547..133114980,2	K562	blood:
25	chr2:133034522..133037379-chr6:119557092..119560188,5	MCF-7	breast:
26	chr2:133108915..133111457-chr2:133172343..133174834,3	MCF-7	breast:
27	chr1:108113044..108113591-chr2:133038209..133039151,2	MCF-7	breast:
28	chr19:24184128..24185106-chr2:133038164..133039151,2	MCF-7	breast:
29	chr2:133037534..133038150-chr21:9827119..9827790,2	MCF-7	breast:
30	chr2:133038216..133038968-chr5:71146910..71147410,2	K562	blood:
31	chr19:44858569..44859729-chr2:133105937..133107575,6	MCF-7	breast:
32	chr1:91852396..91852987-chr2:133036550..133037057,2	MCF-7	breast:
33	chr18:13749839..13751339-chr2:133036649..133038165,2	MCF-7	breast:
34	chr2:133110121..133110687-chr8:43101237..43102219,2	MCF-7	breast:
35	chr2:133026098..133026689-chr2:133106836..133107370,2	MCF-7	breast:
36	chr1:108112622..108113624-chr2:133037951..133038926,4	MCF-7	breast:
37	chr2:133095694..133097559-chr2:133103404..133105244,2	MCF-7	breast:
38	chr19:44858590..44859395-chr2:133106608..133107319,5	MCF-7	breast:
39	chr19:44860567..44861162-chr2:133104579..133105358,2	MCF-7	breast:
40	chr2:133123487..133125732-chr2:133126959..133129500,2	K562	blood:
41	chr2:133036040..133038933-chr8:70602384..70604113,3	K562	blood:
42	chr1:91852393..91852995-chr2:133036535..133037053,3	MCF-7	breast:
43	chr2:133036012..133038474-chr20:26188735..26191734,4	K562	blood:
44	chr2:133034643..133038120-chr20:26188506..26190514,4	MCF-7	breast:
45	chr2:133038170..133038914-chr2:230045097..230046105,3	MCF-7	breast:
46	chr19:44858582..44859085-chr2:133106403..133107293,2	K562	blood:
47	chr2:133038209..133039052-chr5:71146751..71147399,3	MCF-7	breast:
48	chr19:44859033..44861169-chr2:133104533..133106354,2	K562	blood:
49	chr19:44870383..44873063-chr2:133091902..133095007,3	MCF-7	breast:
50	chr2:133038471..133039156-chr4:70296229..70297178,3	MCF-7	breast:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-2	chr2:133095052-133095288	XLOC_001680
2	lnc-GPR39-2	chr2:133095435-133096235	NONHSAT074526
3	lnc-GPR39-2	chr2:133092597-133092734	XLOC_001680
4	lnc-GPR39-2	chr2:133095945-133096184	NONHSAT074528
5	lnc-GPR39-2	chr2:133095945-133096187	XLOC_001680
6	lnc-GPR39-2	chr2:133095158-133095288	NONHSAT074530
7	lnc-ANKRD30BL-1	chr2:133046475-133046638	XLOC_002329
8	lnc-GPR39-2	chr2:133095000-133095041	NONHSAT074530
9	lnc-GPR39-2	chr2:133094931-133095041	NONHSAT074528
10	lnc-GPR39-2	chr2:133095697-133095736	XLOC_001680
11	lnc-GPR39-2	chr2:133092596-133092734	NONHSAT074526
12	lnc-GPR39-2	chr2:133094897-133095041	XLOC_001680
13	lnc-GPR39-7	chr2:133037726-133037732	NONHSAT074524
14	lnc-GPR39-2	chr2:133094931-133095041	XLOC_001680
15	lnc-ANKRD30BL-1	chr2:133051891-133051950	XLOC_002329
16	lnc-GPR39-2	chr2:133095945-133096187	XLOC_001680
17	lnc-ANKRD30BL-1	chr2:133043368-133043465	XLOC_002329
18	lnc-GPR39-2	chr2:133095580-133095736	NONHSAT074528
19	lnc-GPR39-7	chr2:133038981-133039086	NONHSAT074524
20	lnc-GPR39-2	chr2:133095945-133096192	XLOC_001680
21	lnc-GPR39-2	chr2:133095945-133096187	XLOC_001680
22	lnc-GPR39-7	chr2:133038656-133038732	NONHSAT074524
23	lnc-GPR39-2	chr2:133095945-133096184	NONHSAT074530
24	lnc-ANKRD30BL-7	chr2:133103189-133104870	ENSG00000272769.1
25	lnc-GPR39-2	chr2:133095052-133095288	XLOC_001680
26	lnc-GPR39-2	chr2:133095580-133095608	XLOC_001680
27	lnc-GPR39-2	chr2:133094769-133095390	NONHSAT074526
28	lnc-GPR39-2	chr2:133094559-133094792	NONHSAT074528

No data

Variant related genes	Relation type
ENSG00000272769	TF binding region
ENSG00000230803	TF binding region
ZNF806	TF binding region
FAM201B	TF binding region
ENSG00000272769	CpG island
ENSG00000230803	CpG island
ZNF806	CpG island
FAM201B	CpG island
ENSG00000227195	chromatin interactions
ENSG00000253884	chromatin interactions
ENSG00000207986	chromatin interactions
ENSG00000230992	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000272769	chromatin interactions
ENSG00000183840	chromatin interactions
ENSG00000104497	chromatin interactions
ENSG00000062370	chromatin interactions
ENSG00000149531	chromatin interactions
ENSG00000256642	chromatin interactions
ENSG00000200434	chromatin interactions
EXOC5	miRNA target sites
FAM49B	miRNA target sites
TNPO1	miRNA target sites
TNKS1BP1	miRNA target sites

Extended variants
information (count: 4920 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:4920 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572205872	chr2:133036820-133036821	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs542653783	chr2:133036821-133036822	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs113218726	chr2:133036823-133036824	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs35466951	chr2:133036825-133036826	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs79550629	chr2:133036828-133036829	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs201099143	chr2:133036836-133036837	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs77357256	chr2:133036838-133036839	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs75975127	chr2:133036840-133036841	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs200158406	chr2:133036849-133036850	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs112808167	chr2:133036851-133036852	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs34345943	chr2:133036854-133036855	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs77570725	chr2:133036856-133036857	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs79108123	chr2:133036858-133036859	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs386650651	chr2:133036872-133036873	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs531701840	chr2:133036874-133036875	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs377416080	chr2:133036881-133036882	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs150434242	chr2:133036892-133036893	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs117338622	chr2:133036896-133036897	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs373788534	chr2:133036903-133036904	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs141741124	chr2:133036913-133036914	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs76822711	chr2:133036914-133036915	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs80093954	chr2:133036915-133036916	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs75100377	chr2:133036927-133036928	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs73958520	chr2:133036928-133036929	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs532983401	chr2:133036931-133036932	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs76972194	chr2:133036945-133036946	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs150941833	chr2:133036946-133036947	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs79113468	chr2:133036959-133036960	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs76358139	chr2:133036960-133036961	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs79862373	chr2:133036985-133036986	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs75440119	chr2:133036996-133036997	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs76164437	chr2:133037000-133037001	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs74598569	chr2:133037001-133037002	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs376329506	chr2:133037006-133037007	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs386650652	chr2:133037010-133037011	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs372781437	chr2:133037011-133037012	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs566609221	chr2:133037015-133037016	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs533853955	chr2:133037021-133037022	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs75555880	chr2:133037022-133037023	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs78613232	chr2:133037023-133037024	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs75269168	chr2:133037024-133037025	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs537817050	chr2:133037044-133037045	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs556590443	chr2:133037047-133037048	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs76444950	chr2:133037051-133037052	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs375074248	chr2:133037053-133037054	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs80278065	chr2:133037055-133037056	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs75515675	chr2:133037056-133037057	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs368752440	chr2:133037057-133037058	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs578162988	chr2:133037061-133037062	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs78908739	chr2:133037063-133037064	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1202 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133018600-133039200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:133018600-133039200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr2:133018600-133039400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr2:133022200-133039200	ZNF genes & repeats	Colonic Mucosa	Colon
5	chr2:133022400-133039200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr2:133022800-133039400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
7	chr2:133022800-133039400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr2:133023000-133037200	ZNF genes & repeats	Fetal Intestine Large	intestine
9	chr2:133025000-133039200	ZNF genes & repeats	Dnd41	blood
10	chr2:133025000-133039400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:133025800-133039400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr2:133027200-133040600	ZNF genes & repeats	Fetal Stomach	stomach
13	chr2:133028200-133037000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:133030800-133039400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr2:133031400-133039200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr2:133033600-133039200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr2:133033600-133039400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:133033600-133039400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:133035000-133038200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:133035000-133038200	Weak transcription	Fetal Lung	lung
21	chr2:133035200-133039200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:133035400-133037200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr2:133035800-133037200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr2:133035800-133037200	ZNF genes & repeats	NHLF	lung
25	chr2:133035800-133039200	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr2:133035800-133039200	ZNF genes & repeats	Esophagus	oesophagus
27	chr2:133036200-133039000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:133036400-133039200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr2:133036600-133038000	Weak transcription	Right Atrium	heart
30	chr2:133036800-133038000	Weak transcription	Primary T cells from cord blood	blood
31	chr2:133036800-133038000	Weak transcription	Left Ventricle	heart
32	chr2:133036800-133038200	Weak transcription	Fetal Kidney	kidney
33	chr2:133037000-133038200	Weak transcription	Brain Anterior Caudate	brain
34	chr2:133037000-133038200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:133037800-133039200	ZNF genes & repeats	Gastric	stomach
36	chr2:133038000-133038200	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr2:133038000-133038200	Bivalent/Poised TSS	Right Ventricle	heart
38	chr2:133038000-133039200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:133038000-133039200	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr2:133038000-133039200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:133038000-133039200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr2:133038000-133039200	ZNF genes & repeats	Left Ventricle	heart
43	chr2:133038000-133039200	ZNF genes & repeats	Lung	lung
44	chr2:133038000-133039200	ZNF genes & repeats	Pancreas	Pancrea
45	chr2:133038000-133039200	ZNF genes & repeats	Right Atrium	heart
46	chr2:133038000-133039200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr2:133038000-133039200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr2:133038000-133039200	ZNF genes & repeats	Thymus	Thymus
49	chr2:133038000-133039400	ZNF genes & repeats	Spleen	Spleen
50	chr2:133038200-133038400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links