Variant report

Variant	nsv1029440
Chromosome Location	chr6:146349442-146407453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:475)
CpG islands
(count:855)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:146349420-146349596	K562	blood:	n/a	n/a
2	BRCA1	chr6:146349419-146349599	HepG2	liver:	n/a	n/a
3	CBX3	chr6:146349374-146349649	K562	blood:	n/a	n/a
4	CEBPB	chr6:146377842-146377856	K562	blood:	n/a	n/a
5	CEBPB	chr6:146377705-146377911	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr6:146377708-146377909	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr6:146377631-146378007	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr6:146367997-146368041	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr6:146349305-146349627	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr6:146367966-146368040	A549	lung:	n/a	n/a
11	CHD2	chr6:146349364-146349644	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr6:146371480-146371630	NHEK	skin:	n/a	n/a
13	CTCF	chr6:146363860-146364010	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr6:146362520-146362670	GM12868	blood:	n/a	n/a
15	CTCF	chr6:146362520-146362670	GM12878	blood:	n/a	n/a
16	CTCF	chr6:146364200-146364350	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr6:146362396-146362726	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr6:146362520-146362670	BE2_C	brain:	n/a	n/a
19	CTCF	chr6:146362494-146362707	HepG2	liver:	n/a	n/a
20	CTCF	chr6:146363980-146364130	GM12873	blood:	n/a	n/a
21	CTCF	chr6:146362520-146362670	Caco-2	colon:	n/a	n/a
22	CTCF	chr6:146362460-146362610	A549	lung:	n/a	n/a
23	CTCF	chr6:146362520-146362670	BJ	skin:	n/a	n/a
24	CTCF	chr6:146349488-146349548	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:146364400-146364550	HMEC	breast:	n/a	n/a
26	CTCF	chr6:146362540-146362690	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr6:146362432-146362649	K562	blood:	n/a	n/a
28	CTCF	chr6:146362496-146362729	GM12892	blood:	n/a	n/a
29	CTCF	chr6:146350040-146350190	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr6:146362540-146362690	HRE	kidney:	n/a	n/a
31	CTCF	chr6:146362523-146362699	GM19239	blood:	n/a	n/a
32	CTCF	chr6:146364260-146364410	HMEC	breast:	n/a	n/a
33	CTCF	chr6:146362265-146362960	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr6:146362537-146362679	A549	lung:	n/a	n/a
35	CTCF	chr6:146362520-146362670	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:146362560-146362710	HCT-116	colon:	n/a	n/a
37	CTCF	chr6:146362520-146362670	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr6:146364300-146364450	HepG2	liver:	n/a	n/a
39	CTCF	chr6:146363898-146364010	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr6:146349540-146349690	HRE	kidney:	n/a	n/a
41	CTCF	chr6:146362528-146362701	GM12891	blood:	n/a	n/a
42	CTCF	chr6:146362567-146362639	GM20000	blood:	n/a	n/a
43	CTCF	chr6:146363860-146364010	HMEC	breast:	n/a	n/a
44	CTCF	chr6:146362520-146362670	AG10803	skin:	n/a	n/a
45	CTCF	chr6:146362540-146362690	AG04450	lung:	n/a	n/a
46	CTCF	chr6:146349440-146349590	HepG2	liver:	n/a	n/a
47	CTCF	chr6:146362480-146362630	BE2_C	brain:	n/a	n/a
48	CTCF	chr6:146362480-146362630	RPTEC	kidney:	n/a	n/a
49	CTCF	chr6:146362500-146362650	GM12873	blood:	n/a	n/a
50	CTCF	chr6:146362500-146362650	HEEpiC	esophagus:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:146350618-146350668	NHBE	bronchial:	n/a
2	chr6:146350618-146350668	NHBE	bronchial:	n/a
3	chr6:146350969-146351019	NT2-D1	testis:	n/a
4	chr6:146349488-146349538	MCF-7	breast:	n/a
5	chr6:146350434-146350484	PFSK-1	brain:	n/a
6	chr6:146351044-146351094	AG04450	lung:	fetal
7	chr6:146350230-146350280	PrEC	prostate:	n/a
8	chr6:146351044-146351094	Hepatocyte	liver:	n/a
9	chr6:146350434-146350484	GM12891	blood:	n/a
10	chr6:146350618-146350668	A549	lung:	n/a
11	chr6:146350041-146350091	HCPEpiC	choroid plexus:	n/a
12	chr6:146350041-146350091	GM19239	blood:	n/a
13	chr6:146351044-146351094	HEK293	kidney:	embryo
14	chr6:146349488-146349538	PFSK-1	brain:	n/a
15	chr6:146349488-146349538	HL-60	blood:	n/a
16	chr6:146350131-146350181	Caco-2	colon:	n/a
17	chr6:146350585-146350635	T-47D	breast:	n/a
18	chr6:146349488-146349538	H1-hESC	embryonic stem cell:	embryo
19	chr6:146350041-146350091	NH-A	brain:	n/a
20	chr6:146350748-146350798	HCF	heart:	n/a
21	chr6:146350618-146350668	Hela-S3	cervix:	n/a
22	chr6:146350230-146350280	RPTEC	kidney:	n/a
23	chr6:146350585-146350635	LNCaP	prostate:	n/a
24	chr6:146349527-146349577	Jurkat	blood:	n/a
25	chr6:146350748-146350798	GM12878	blood:	n/a
26	chr6:146350041-146350091	HCM	heart:	n/a
27	chr6:146350041-146350091	BJ	skin:	n/a
28	chr6:146349527-146349577	SAEC	small airway:	n/a
29	chr6:146350041-146350091	ECC-1	luminal epithelium:	n/a
30	chr6:146350969-146351019	H1-hESC	embryonic stem cell:	embryo
31	chr6:146350748-146350798	AG04449	skin:	fetal
32	chr6:146350585-146350635	PANC-1	pancreas:	n/a
33	chr6:146354506-146354556	CMK	blood:	n/a
34	chr6:146350618-146350668	ECC-1	luminal epithelium:	n/a
35	chr6:146350969-146351019	HUVEC	blood vessel:	n/a
36	chr6:146354506-146354556	HIPEpiC	eye:	n/a
37	chr6:146349527-146349577	AG09309	skin:	n/a
38	chr6:146349638-146349688	PFSK-1	brain:	n/a
39	chr6:146350434-146350484	GM06990	blood:	n/a
40	chr6:146350346-146350396	HepG2	liver:	n/a
41	chr6:146350618-146350668	CMK	blood:	n/a
42	chr6:146350041-146350091	U87	brain:	n/a
43	chr6:146350969-146351019	BJ	skin:	n/a
44	chr6:146349527-146349577	GM12892	blood:	n/a
45	chr6:146350131-146350181	AG10803	skin:	n/a
46	chr6:146349638-146349688	HNPCEpiC	eye:	n/a
47	chr6:146350230-146350280	CMK	blood:	n/a
48	chr6:146350748-146350798	GM06990	blood:	n/a
49	chr6:146350585-146350635	H1-hESC	embryonic stem cell:	embryo
50	chr6:146350585-146350635	HUVEC	blood vessel:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:146362130..146362659-chr6:147021091..147021803,2	MCF-7	breast:
2	chr6:146337459..146340301-chr6:146352886..146354448,2	K562	blood:
3	chr6:146373379..146375346-chr6:146377226..146379256,2	K562	blood:
4	chr6:146362143..146363255-chr6:146846950..146848008,5	MCF-7	breast:
5	chr6:146250243..146251097-chr6:146363505..146364019,2	MCF-7	breast:
6	chr6:146371406..146371941-chr6:146846755..146847588,2	MCF-7	breast:
7	chr6:146362957..146363720-chr6:147080673..147081292,2	MCF-7	breast:
8	chr6:146350261..146353063-chr6:146358885..146362150,3	K562	blood:
9	chr6:146380713..146383200-chr6:146863558..146865271,2	MCF-7	breast:
10	chr6:146362160..146362895-chr6:147020941..147021449,2	K562	blood:
11	chr6:146363337..146364087-chr6:146847332..146848135,2	MCF-7	breast:
12	chr6:146362373..146363078-chr6:147020949..147021936,3	MCF-7	breast:
13	chr6:146373379..146375346-chr6:146377226..146379256,2	K562	blood:
14	chr15:99557878..99558604-chr6:146349211..146349732,2	MCF-7	breast:

No data

Variant related genes	Relation type
GRM1	TF binding region
GRM1	CpG island
ENSG00000118508	chromatin interactions
ENSG00000152822	chromatin interactions

Extended variants
information (count: 1518 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117430296	chr6:146349456-146349457	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs567355300	chr6:146349507-146349508	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs536459912	chr6:146349514-146349515	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs556487394	chr6:146349563-146349564	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs117599709	chr6:146349567-146349568	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs854145	chr6:146349650-146349651	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs565315844	chr6:146349664-146349665	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs3811104	chr6:146349680-146349681	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs541486944	chr6:146349725-146349726	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs3811105	chr6:146349751-146349752	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149012208	chr6:146349763-146349764	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550004731	chr6:146349764-146349765	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs563638678	chr6:146349766-146349767	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs143838155	chr6:146349780-146349781	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs555939244	chr6:146349898-146349899	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs552607343	chr6:146349914-146349915	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs571193085	chr6:146349941-146349942	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs576623123	chr6:146349954-146349955	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs538842736	chr6:146349988-146349989	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs533554764	chr6:146350042-146350043	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs536319739	chr6:146350048-146350049	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs567408223	chr6:146350061-146350062	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs536447649	chr6:146350063-146350064	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs553028001	chr6:146350095-146350096	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs569950181	chr6:146350133-146350134	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs538892126	chr6:146350141-146350142	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs558601276	chr6:146350146-146350147	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs6920529	chr6:146350148-146350149	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541078786	chr6:146350216-146350217	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs566418188	chr6:146350222-146350223	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs554635801	chr6:146350244-146350245	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs114911615	chr6:146350260-146350261	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs2073287	chr6:146350264-146350265	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs543589745	chr6:146350276-146350277	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs151084465	chr6:146350335-146350336	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs532615361	chr6:146350394-146350395	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs546428547	chr6:146350405-146350406	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs372829738	chr6:146350438-146350439	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs554100634	chr6:146350454-146350455	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs139981126	chr6:146350455-146350456	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs559804036	chr6:146350475-146350476	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs527267882	chr6:146350524-146350525	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188169214	chr6:146350535-146350536	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs567346969	chr6:146350560-146350561	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs118064407	chr6:146350563-146350564	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs549918628	chr6:146350576-146350577	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs569841372	chr6:146350588-146350589	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs370041965	chr6:146350649-146350650	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs373546028	chr6:146350683-146350684	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs377264022	chr6:146350685-146350686	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cerebellar ataxia	22138850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146348400-146351400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:146348600-146349600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:146348600-146349800	Active TSS	Brain Angular Gyrus	brain
4	chr6:146348600-146351200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr6:146348600-146351200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:146348600-146351400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:146348600-146351400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:146348600-146351600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:146348600-146351600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:146348800-146349600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:146348800-146349600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:146348800-146349600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:146348800-146349800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr6:146348800-146349800	Active TSS	Brain Anterior Caudate	brain
15	chr6:146348800-146349800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr6:146348800-146350000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:146348800-146350000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:146348800-146350000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:146348800-146350000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr6:146348800-146350000	ZNF genes & repeats	Lung	lung
21	chr6:146348800-146350000	Enhancers	Pancreas	Pancrea
22	chr6:146348800-146350200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr6:146348800-146350200	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr6:146348800-146350400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:146348800-146350800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:146348800-146351200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr6:146348800-146351400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr6:146349000-146349600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
29	chr6:146349000-146349600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr6:146349000-146349600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr6:146349000-146350000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
32	chr6:146349000-146350400	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr6:146349000-146351800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
34	chr6:146349200-146349600	Genic enhancers	Right Atrium	heart
35	chr6:146349200-146349600	Enhancers	Right Ventricle	heart
36	chr6:146349200-146349800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chr6:146349200-146349800	Bivalent Enhancer	Fetal Heart	heart
38	chr6:146349200-146350000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:146349200-146350600	ZNF genes & repeats	Spleen	Spleen
40	chr6:146349400-146349600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:146349400-146349600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:146349400-146349600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:146349400-146349600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:146349400-146349600	Bivalent Enhancer	Brain Substantia Nigra	brain
45	chr6:146349400-146349600	Bivalent Enhancer	Left Ventricle	heart
46	chr6:146349400-146349600	Active TSS	NH-A	brain
47	chr6:146349400-146349800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:146349400-146349800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:146349400-146349800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:146349400-146349800	Bivalent/Poised TSS	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links