Variant report

Variant	nsv872990
Chromosome Location	chr1:196705167-196838060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:196712502-196712701	K562	blood:	n/a	n/a
2	BATF	chr1:196743800-196744098	GM12878	blood:	n/a	chr1:196743977-196743985
3	CBX3	chr1:196707787-196708233	K562	blood:	n/a	n/a
4	CBX3	chr1:196707919-196708187	K562	blood:	n/a	n/a
5	CEBPB	chr1:196792559-196792845	IMR90	lung:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792826-196792839 chr1:196792697-196792706
6	CEBPB	chr1:196825893-196826006	K562	blood:	n/a	n/a
7	CEBPB	chr1:196792658-196792868	A549	lung:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792826-196792839 chr1:196792697-196792706
8	CEBPB	chr1:196792584-196792829	HepG2	liver:	n/a	chr1:196792695-196792706 chr1:196792696-196792707 chr1:196792695-196792708 chr1:196792697-196792706
9	CEBPB	chr1:196825838-196826029	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr1:196745101-196745132	IMR90	lung:	n/a	n/a
11	CTCF	chr1:196797060-196797210	HA-sp	spinal cord:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
12	CTCF	chr1:196712560-196712710	GM12872	blood:	n/a	n/a
13	CTCF	chr1:196712464-196712628	GM13976	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
14	CTCF	chr1:196797120-196797270	HPAF	blood vessel:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
15	CTCF	chr1:196712460-196712610	GM12864	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
16	CTCF	chr1:196796964-196797372	GM12878	blood:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
17	CTCF	chr1:196797120-196797270	AG04450	lung:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
18	CTCF	chr1:196712560-196712710	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr1:196748398-196748462	Gliobla	brain:	n/a	n/a
20	CTCF	chr1:196712346-196712700	A549	lung:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
21	CTCF	chr1:196797000-196797150	RPTEC	kidney:	n/a	n/a
22	CTCF	chr1:196748280-196748430	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr1:196712460-196712610	GM12865	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
24	CTCF	chr1:196712418-196712668	Medullo	brain:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
25	CTCF	chr1:196712441-196712682	MCF-7	breast:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
26	CTCF	chr1:196797100-196797250	HAc	cerebellar:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
27	CTCF	chr1:196797120-196797270	HPF	lung:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
28	CTCF	chr1:196748340-196748490	HEK293	kidney:	n/a	n/a
29	CTCF	chr1:196712480-196712630	HA-sp	spinal cord:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
30	CTCF	chr1:196797060-196797210	GM12872	blood:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
31	CTCF	chr1:196712440-196712590	AG09319	gingival:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
32	CTCF	chr1:196712290-196712697	A549	lung:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
33	CTCF	chr1:196808521-196808574	GM20000	blood:	n/a	n/a
34	CTCF	chr1:196797091-196797257	GM10266	blood:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
35	CTCF	chr1:196712522-196712528	GM10248	blood:	n/a	n/a
36	CTCF	chr1:196712460-196712610	AG09309	skin:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
37	CTCF	chr1:196748340-196748490	GM12878	blood:	n/a	n/a
38	CTCF	chr1:196797089-196797305	H1-hESC	embryonic stem cell:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
39	CTCF	chr1:196712500-196712650	AG10803	skin:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
40	CTCF	chr1:196712441-196712614	A549	lung:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
41	CTCF	chr1:196712460-196712610	HAc	cerebellar:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
42	CTCF	chr1:196748480-196748630	RPTEC	kidney:	n/a	n/a
43	CTCF	chr1:196797100-196797250	AoAF	blood vessel:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
44	CTCF	chr1:196712480-196712630	GM12874	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
45	CTCF	chr1:196712500-196712650	GM06990	blood:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
46	CTCF	chr1:196797100-196797250	BJ	skin:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
47	CTCF	chr1:196797060-196797210	HRE	kidney:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178
48	CTCF	chr1:196712480-196712630	HCPEpiC	choroid plexus:	n/a	chr1:196712547-196712554 chr1:196712544-196712560 chr1:196712543-196712561 chr1:196712545-196712566
49	CTCF	chr1:196749061-196749076	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:196797120-196797270	HMEC	breast:	n/a	chr1:196797163-196797184 chr1:196797161-196797179 chr1:196797165-196797172 chr1:196797162-196797178

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196746875-196746925	LNCaP	prostate:	n/a
2	chr1:196787850-196787900	GM19239	blood:	n/a
3	chr1:196787850-196787900	HCPEpiC	choroid plexus:	n/a
4	chr1:196746875-196746925	HAEpiC	amniotic membrane:	n/a
5	chr1:196743672-196743722	ovcar-3	ovarian:	n/a
6	chr1:196746875-196746925	HRE	kidney:	n/a
7	chr1:196746875-196746925	A549	lung:	n/a
8	chr1:196746875-196746925	GM12878	blood:	n/a
9	chr1:196746875-196746925	HCPEpiC	choroid plexus:	n/a
10	chr1:196795943-196795993	CMK	blood:	n/a
11	chr1:196743672-196743722	K562	blood:	n/a
12	chr1:196743672-196743722	RPTEC	kidney:	n/a
13	chr1:196743672-196743722	NT2-D1	testis:	n/a
14	chr1:196787850-196787900	AG04450	lung:	fetal
15	chr1:196746875-196746925	SK-N-SH	brain:	n/a
16	chr1:196795943-196795993	HCPEpiC	choroid plexus:	n/a
17	chr1:196746875-196746925	HCM	heart:	n/a
18	chr1:196746875-196746925	GM12891	blood:	n/a
19	chr1:196746875-196746925	K562	blood:	n/a
20	chr1:196787850-196787900	SK-N-MC	brain:	n/a
21	chr1:196787850-196787900	GM12891	blood:	n/a
22	chr1:196743672-196743722	AG10803	skin:	n/a
23	chr1:196795943-196795993	MCF-7	breast:	n/a
24	chr1:196746875-196746925	ECC-1	luminal epithelium:	n/a
25	chr1:196746875-196746925	AG04450	lung:	fetal
26	chr1:196746875-196746925	GM12892	blood:	n/a
27	chr1:196746875-196746925	AG04449	skin:	fetal
28	chr1:196746875-196746925	BJ	skin:	n/a
29	chr1:196787850-196787900	AG09309	skin:	n/a
30	chr1:196743672-196743722	AoSMC	blood vessel:	n/a
31	chr1:196787850-196787900	SK-N-SH	brain:	n/a
32	chr1:196795943-196795993	SK-N-SH_RA	brain:	n/a
33	chr1:196743672-196743722	HCF	heart:	n/a
34	chr1:196746875-196746925	AoSMC	blood vessel:	n/a
35	chr1:196743672-196743722	BJ	skin:	n/a
36	chr1:196795943-196795993	SAEC	small airway:	n/a
37	chr1:196795943-196795993	PrEC	prostate:	n/a
38	chr1:196746875-196746925	HRCEpiC	kidney:	n/a
39	chr1:196787850-196787900	RPTEC	kidney:	n/a
40	chr1:196746875-196746925	NH-A	brain:	n/a
41	chr1:196743672-196743722	A549	lung:	n/a
42	chr1:196743672-196743722	AG04449	skin:	fetal
43	chr1:196795943-196795993	HUVEC	blood vessel:	n/a
44	chr1:196743672-196743722	HRE	kidney:	n/a
45	chr1:196787850-196787900	PFSK-1	brain:	n/a
46	chr1:196746875-196746925	H1-hESC	embryonic stem cell:	embryo
47	chr1:196795943-196795993	GM12892	blood:	n/a
48	chr1:196787850-196787900	AoSMC	blood vessel:	n/a
49	chr1:196795943-196795993	AG04449	skin:	fetal
50	chr1:196743672-196743722	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
2	chr1:196712193..196713017-chr1:197326079..197326750,3	MCF-7	breast:
3	chr1:196821183..196821683-chr13:114578689..114579580,2	NB4	blood:
4	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
5	chr1:196738269..196739930-chr1:196742962..196745311,2	MCF-7	breast:
6	chr1:196734362..196735975-chr1:196744220..196746531,2	MCF-7	breast:
7	chr1:196711931..196712944-chr1:196796605..196797511,4	MCF-7	breast:
8	chr1:196796721..196797658-chr1:196859492..196860452,2	MCF-7	breast:
9	chr1:196833036..196835508-chr1:196837217..196839600,2	K562	blood:
10	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:
11	chr1:196712168..196712942-chr1:196796703..196797590,3	MCF-7	breast:
12	chr1:196706600..196708493-chr1:196711945..196714734,2	K562	blood:
13	chr1:196833036..196835508-chr1:196837217..196839600,2	K562	blood:
14	chr1:196712121..196712996-chr1:197035666..197036522,2	MCF-7	breast:
15	chr1:196706600..196708493-chr1:196711945..196714734,2	K562	blood:
16	chr1:196711011..196712654-chr1:196796494..196798129,2	MCF-7	breast:
17	chr1:196734362..196735975-chr1:196744220..196746531,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F13B-1	chr1:196834519-196834621	NONHSAT008604
2	lnc-CFHR2-1	chr1:196794607-196795156	NONHSAT008602
3	lnc-CFHR2-1	chr1:196795959-196796135	NONHSAT008600
4	lnc-CFHR2-1	chr1:196795959-196796135	NONHSAT008603
5	lnc-CFHR2-1	chr1:196794607-196794801	NONHSAT008600
6	lnc-CFHR2-1	chr1:196797200-196797225	NONHSAT008600
7	lnc-CFHR1-1	chr1:196758890-196759357	NONHSAT008599
8	lnc-F13B-1	chr1:196833477-196833736	NONHSAT008604
9	lnc-CFHR2-1	chr1:196788893-196789032	NONHSAT008600
10	lnc-CFHR1-1	chr1:196762447-196762763	NONHSAT008599
11	lnc-CFHR2-1	chr1:196794354-196794801	NONHSAT008603
12	lnc-CFHR2-1	chr1:196788952-196789032	NONHSAT008601
13	lnc-CFHR2-1	chr1:196788995-196789032	NONHSAT008602
14	lnc-CFHR2-1	chr1:196797200-196797297	NONHSAT008603
15	lnc-CFHR2-1	chr1:196790015-196790332	NONHSAT008601
16	lnc-CFHR2-1	chr1:196797280-196797376	NONHSAT008600

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CFH	hsa-miR-146a-5p	chr1:196716478-196716499

Variant related genes	Relation type
CFH	TF binding region
CFHR4	TF binding region
CFHR2	TF binding region
CFHR1	TF binding region
CFHR3	TF binding region
CFH	CpG island
CFHR4	CpG island
CFHR2	CpG island
CFHR1	CpG island
CFHR3	CpG island
ENSG00000116785	chromatin interactions
ENSG00000143278	chromatin interactions

Extended variants
information (count: 2956 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2956 , 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	rs434536	chr1:196705167-196705168	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538924480	chr1:196705172-196705173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554491103	chr1:196705200-196705201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147332390	chr1:196705235-196705236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572550737	chr1:196705266-196705267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183405785	chr1:196705267-196705268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375513807	chr1:196705327-196705328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369051428	chr1:196705354-196705355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140250358	chr1:196705380-196705381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543533839	chr1:196705382-196705383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149248235	chr1:196705431-196705432	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532546086	chr1:196705440-196705441	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372161272	chr1:196705463-196705464	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs742855	chr1:196705520-196705521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs560440921	chr1:196705562-196705563	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368840809	chr1:196705566-196705567	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552028199	chr1:196705572-196705573	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs374231	chr1:196705654-196705655	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534328015	chr1:196705655-196705656	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34789365	chr1:196705672-196705673	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569940498	chr1:196705682-196705683	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs79455465	chr1:196705761-196705762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535637853	chr1:196705796-196705797	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs554156507	chr1:196705837-196705838	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs435628	chr1:196705886-196705887	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571148521	chr1:196705908-196705909	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375046	chr1:196705926-196705927	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200859144	chr1:196705961-196705962	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs145151370	chr1:196705979-196705980	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs367687415	chr1:196706001-196706002	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs199963716	chr1:196706009-196706010	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs62641696	chr1:196706028-196706029	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs35945332	chr1:196706039-196706040	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs147099450	chr1:196706040-196706041	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs572735503	chr1:196706046-196706047	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs55807605	chr1:196706049-196706050	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370764629	chr1:196706060-196706061	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs375176505	chr1:196706144-196706145	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs367911875	chr1:196706165-196706166	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs372456626	chr1:196706168-196706169	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs428060	chr1:196706200-196706201	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs576233776	chr1:196706201-196706202	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs3753397	chr1:196706219-196706220	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543468932	chr1:196706220-196706221	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148428608	chr1:196706250-196706251	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113421038	chr1:196706277-196706278	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577163998	chr1:196706299-196706300	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541441555	chr1:196706344-196706345	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs560171629	chr1:196706369-196706370	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs535720870	chr1:196706382-196706383	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:196649600-196707200	Weak transcription	Osteobl	bone
3	chr1:196674000-196706600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:196678600-196707000	Weak transcription	HSMMtube	muscle
5	chr1:196685600-196706800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:196690800-196707200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:196691200-196718400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:196693000-196707800	Weak transcription	Lung	lung
9	chr1:196693200-196707800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:196693600-196706000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:196693600-196707000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:196693600-196707000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:196694400-196706600	Weak transcription	Psoas Muscle	Psoas
14	chr1:196695600-196707600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:196699200-196707200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:196700200-196705400	Strong transcription	Dnd41	blood
17	chr1:196701200-196707000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:196701800-196707000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:196702200-196707200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:196702400-196706000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:196702600-196706000	Weak transcription	HSMM	muscle
22	chr1:196702800-196707200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:196702800-196709600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:196703800-196706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:196703800-196706600	Weak transcription	Ovary	ovary
26	chr1:196703800-196707000	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:196703800-196707800	Weak transcription	Small Intestine	intestine
28	chr1:196704600-196707200	Strong transcription	Liver	Liver
29	chr1:196705000-196706600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:196705200-196707200	Weak transcription	NH-A	brain
31	chr1:196705400-196709600	ZNF genes & repeats	Dnd41	blood
32	chr1:196706000-196708000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:196706000-196710600	Strong transcription	HSMM	muscle
34	chr1:196706000-196711400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:196706200-196709000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:196706600-196707400	Strong transcription	Ovary	ovary
37	chr1:196706600-196707400	Strong transcription	Psoas Muscle	Psoas
38	chr1:196706600-196709200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:196706600-196709400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:196706600-196710200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:196706800-196709200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:196707000-196707200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:196707000-196707200	ZNF genes & repeats	HSMMtube	muscle
44	chr1:196707000-196708400	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr1:196707000-196708800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:196707000-196709000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr1:196707000-196709400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:196707000-196709400	Weak transcription	K562	blood
49	chr1:196707200-196707600	Transcr. at gene 5' and 3'	Liver	Liver
50	chr1:196707200-196707800	ZNF genes & repeats	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links