Variant report

Variant	nsv818410
Chromosome Location	chr6:34538544-34579431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1173)
CpG islands
(count:429)
Chromatin interactive
region (count:108)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1173 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:34578932-34579514	K562	blood:	n/a	n/a
2	ARID3A	chr6:34577347-34578300	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:34570163-34570839	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:34577325-34577799	K562	blood:	n/a	n/a
5	ATF1	chr6:34565943-34566111	K562	blood:	n/a	n/a
6	ATF1	chr6:34578906-34579287	K562	blood:	n/a	n/a
7	ATF1	chr6:34577390-34577760	K562	blood:	n/a	n/a
8	ATF2	chr6:34577334-34577701	GM12878	blood:	n/a	n/a
9	ATF3	chr6:34578870-34579116	K562	blood:	n/a	n/a
10	ATF3	chr6:34577301-34577713	K562	blood:	n/a	n/a
11	ATF3	chr6:34578726-34579276	K562	blood:	n/a	n/a
12	BACH1	chr6:34563313-34563367	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr6:34577398-34577555	K562	blood:	n/a	n/a
14	BACH1	chr6:34560504-34560511	K562	blood:	n/a	n/a
15	BACH1	chr6:34570378-34570611	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr6:34561734-34561749	K562	blood:	n/a	n/a
17	BATF	chr6:34577362-34577695	GM12878	blood:	n/a	n/a
18	BATF	chr6:34577425-34577698	GM12878	blood:	n/a	n/a
19	BCL3	chr6:34541372-34541610	GM12878	blood:	n/a	n/a
20	BCL3	chr6:34543140-34543668	K562	blood:	n/a	chr6:34543350-34543359
21	BCLAF1	chr6:34577309-34577700	GM12878	blood:	n/a	chr6:34577447-34577455
22	BCLAF1	chr6:34577290-34577729	GM12878	blood:	n/a	chr6:34577447-34577455
23	BHLHE40	chr6:34577399-34577653	GM12878	blood:	n/a	n/a
24	BHLHE40	chr6:34578101-34578289	HepG2	liver:	n/a	n/a
25	BHLHE40	chr6:34577406-34577786	K562	blood:	n/a	n/a
26	BRCA1	chr6:34577378-34577720	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr6:34539475-34539630	HepG2	liver:	n/a	n/a
28	CBX3	chr6:34577276-34577807	K562	blood:	n/a	n/a
29	CBX3	chr6:34540332-34540766	K562	blood:	n/a	n/a
30	CBX3	chr6:34577274-34577893	HCT-116	colon:	n/a	n/a
31	CBX3	chr6:34540358-34540680	K562	blood:	n/a	n/a
32	CCNT2	chr6:34578941-34579180	K562	blood:	n/a	n/a
33	CCNT2	chr6:34577438-34577691	K562	blood:	n/a	n/a
34	CCNT2	chr6:34551355-34551428	K562	blood:	n/a	n/a
35	CEBPB	chr6:34553231-34553535	A549	lung:	n/a	n/a
36	CEBPB	chr6:34577381-34577658	K562	blood:	n/a	n/a
37	CEBPB	chr6:34577348-34577785	K562	blood:	n/a	n/a
38	CEBPB	chr6:34577443-34577704	A549	lung:	n/a	n/a
39	CEBPB	chr6:34563116-34563499	IMR90	lung:	n/a	chr6:34563315-34563332
40	CEBPB	chr6:34570117-34570340	HepG2	liver:	n/a	n/a
41	CEBPB	chr6:34576188-34576463	IMR90	lung:	n/a	n/a
42	CEBPB	chr6:34573960-34574254	HepG2	liver:	n/a	chr6:34574018-34574031
43	CEBPB	chr6:34553230-34553567	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr6:34578878-34579252	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr6:34578962-34579250	K562	blood:	n/a	n/a
46	CEBPB	chr6:34578920-34579261	IMR90	lung:	n/a	n/a
47	CEBPB	chr6:34553219-34553507	K562	blood:	n/a	n/a
48	CEBPB	chr6:34577434-34577704	IMR90	lung:	n/a	n/a
49	CEBPB	chr6:34577378-34577776	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr6:34570597-34570952	HepG2	liver:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34566245-34566295	HRE	kidney:	n/a
2	chr6:34569886-34569936	HRCEpiC	kidney:	n/a
3	chr6:34566245-34566295	HRE	kidney:	n/a
4	chr6:34569886-34569936	HRCEpiC	kidney:	n/a
5	chr6:34554635-34554685	HRE	kidney:	n/a
6	chr6:34543055-34543105	AG04450	lung:	fetal
7	chr6:34569886-34569936	HCF	heart:	n/a
8	chr6:34574629-34574679	U87	brain:	n/a
9	chr6:34554635-34554685	AG04450	lung:	fetal
10	chr6:34543055-34543105	HCM	heart:	n/a
11	chr6:34554635-34554685	NHDF-neo	bronchial:	n/a
12	chr6:34554635-34554685	PFSK-1	brain:	n/a
13	chr6:34556105-34556155	H1-hESC	embryonic stem cell:	embryo
14	chr6:34563243-34563293	HRE	kidney:	n/a
15	chr6:34569886-34569936	HUVEC	blood vessel:	n/a
16	chr6:34566245-34566295	HRPEpiC	eye:	n/a
17	chr6:34543055-34543105	ProgFib	skin:	n/a
18	chr6:34563243-34563293	H1-hESC	embryonic stem cell:	embryo
19	chr6:34543055-34543105	H1-hESC	embryonic stem cell:	embryo
20	chr6:34569886-34569936	PANC-1	pancreas:	n/a
21	chr6:34574629-34574679	SK-N-SH	brain:	n/a
22	chr6:34566245-34566295	GM19239	blood:	n/a
23	chr6:34554635-34554685	ProgFib	skin:	n/a
24	chr6:34543055-34543105	Hepatocyte	liver:	n/a
25	chr6:34556105-34556155	AoSMC	blood vessel:	n/a
26	chr6:34554635-34554685	AG09309	skin:	n/a
27	chr6:34569886-34569936	PrEC	prostate:	n/a
28	chr6:34556105-34556155	HEK293	kidney:	embryo
29	chr6:34563243-34563293	GM12878	blood:	n/a
30	chr6:34543055-34543105	HMEC	breast:	n/a
31	chr6:34574629-34574679	HCM	heart:	n/a
32	chr6:34556105-34556155	HEEpiC	esophagus:	n/a
33	chr6:34556105-34556155	NHBE	bronchial:	n/a
34	chr6:34569886-34569936	GM06990	blood:	n/a
35	chr6:34554635-34554685	HAEpiC	amniotic membrane:	n/a
36	chr6:34566245-34566295	GM12892	blood:	n/a
37	chr6:34556105-34556155	HRE	kidney:	n/a
38	chr6:34556105-34556155	ECC-1	luminal epithelium:	n/a
39	chr6:34569886-34569936	HCPEpiC	choroid plexus:	n/a
40	chr6:34543055-34543105	HUVEC	blood vessel:	n/a
41	chr6:34543055-34543105	SKMC	muscle:	n/a
42	chr6:34569886-34569936	GM12892	blood:	n/a
43	chr6:34554635-34554685	BE2_C	brain:	n/a
44	chr6:34574629-34574679	NH-A	brain:	n/a
45	chr6:34543055-34543105	GM12891	blood:	n/a
46	chr6:34556105-34556155	HMEC	breast:	n/a
47	chr6:34574629-34574679	HRPEpiC	eye:	n/a
48	chr6:34569886-34569936	ProgFib	skin:	n/a
49	chr6:34574629-34574679	NHDF-neo	bronchial:	n/a
50	chr6:34574629-34574679	HCPEpiC	choroid plexus:	n/a

(count:108 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:34494680..34495634-chr6:34577124..34578035,2	MCF-7	breast:
2	chr6:34535124..34538612-chr6:34540257..34541806,3	K562	blood:
3	chr6:34163718..34164707-chr6:34577121..34577992,3	K562	blood:
4	chr6:34532465..34535112-chr6:34540040..34542974,2	K562	blood:
5	chr6:34433254..34436133-chr6:34577509..34579305,2	K562	blood:
6	chr6:34521375..34525146-chr6:34564665..34566701,4	MCF-7	breast:
7	chr6:34535124..34538612-chr6:34540257..34541806,3	K562	blood:
8	chr6:34382616..34385085-chr6:34576008..34577878,2	K562	blood:
9	chr6:34551284..34553223-chr6:34555958..34557670,2	MCF-7	breast:
10	chr6:34559251..34563150-chr6:34565223..34569696,5	K562	blood:
11	chr6:34518383..34520887-chr6:34564269..34566173,2	MCF-7	breast:
12	chr6:34563477..34566379-chr6:34567345..34568869,2	K562	blood:
13	chr6:34508607..34511346-chr6:34567639..34570139,2	K562	blood:
14	chr6:34556477..34558715-chr6:34566152..34568082,2	K562	blood:
15	chr6:34497355..34498033-chr6:34557195..34557723,2	MCF-7	breast:
16	chr6:34522438..34524089-chr6:34549801..34552822,3	MCF-7	breast:
17	chr6:34548787..34550337-chr6:34551862..34554295,2	K562	blood:
18	chr6:34555563..34557937-chr6:34565420..34567500,2	MCF-7	breast:
19	chr6:34497242..34499881-chr6:34564591..34566557,2	MCF-7	breast:
20	chr6:34550788..34556388-chr6:34565460..34570894,5	K562	blood:
21	chr6:34570143..34573485-chr6:34575901..34578410,4	K562	blood:
22	chr6:34535124..34537027-chr6:34540257..34543237,2	K562	blood:
23	chr6:34494469..34496151-chr6:34577655..34579267,2	K562	blood:
24	chr6:34522846..34524505-chr6:34560698..34562475,2	MCF-7	breast:
25	chr6:34494608..34496228-chr6:34576974..34578003,14	K562	blood:
26	chr6:34535538..34537048-chr6:34550660..34552218,2	K562	blood:
27	chr6:34558125..34560108-chr6:34562262..34564582,2	MCF-7	breast:
28	chr6:34521648..34524118-chr6:34538318..34540666,2	MCF-7	breast:
29	chr6:34538087..34543232-chr6:34543693..34548004,8	K562	blood:
30	chr6:34555563..34557937-chr6:34565420..34567500,2	MCF-7	breast:
31	chr6:34552512..34555793-chr6:34557456..34559676,3	K562	blood:
32	chr6:34551284..34553223-chr6:34555958..34557670,2	MCF-7	breast:
33	chr6:34389543..34394732-chr6:34574811..34579307,4	K562	blood:
34	chr6:34023643..34024284-chr6:34577063..34577946,2	K562	blood:
35	chr6:34483206..34485571-chr6:34540552..34542756,2	K562	blood:
36	chr6:34544544..34547164-chr6:34547916..34551672,4	K562	blood:
37	chr6:34544085..34546568-chr6:34548676..34550221,2	K562	blood:
38	chr6:34502860..34505153-chr6:34574324..34576111,2	MCF-7	breast:
39	chr6:34479843..34482340-chr6:34557175..34560153,2	K562	blood:
40	chr6:34559251..34563150-chr6:34565223..34569696,5	K562	blood:
41	chr6:34494734..34495415-chr6:34557190..34557693,2	MCF-7	breast:
42	chr6:34546025..34550946-chr6:34551862..34556143,7	K562	blood:
43	chr6:34389543..34392332-chr6:34575346..34578264,2	K562	blood:
44	chr6:34543493..34547191-chr6:34549783..34553774,3	MCF-7	breast:
45	chr6:34552512..34555793-chr6:34557456..34559676,4	K562	blood:
46	chr6:34359197..34361923-chr6:34576556..34579097,2	K562	blood:
47	chr6:34556477..34558715-chr6:34566152..34568082,2	K562	blood:
48	chr6:34543118..34546056-chr6:34551704..34553815,2	K562	blood:
49	chr6:34563477..34566379-chr6:34567345..34568869,2	K562	blood:
50	chr6:34215533..34217389-chr6:34572989..34575373,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	C6orf106	hsa-miR-10b-5p	chr6:34557812-34557834

Variant related genes	Relation type
ENSG00000196114	TF binding region
RPL7P25	TF binding region
ENSG00000196114	CpG island
RPL7P25	CpG island
ENSG00000137309	chromatin interactions
ENSG00000124507	chromatin interactions
ENSG00000272325	chromatin interactions
ENSG00000124493	chromatin interactions
ENSG00000270800	chromatin interactions
ENSG00000064999	chromatin interactions
ENSG00000196114	chromatin interactions
ENSG00000186577	chromatin interactions
ENSG00000124614	chromatin interactions
ENSG00000124664	chromatin interactions
ENSG00000064995	chromatin interactions

Extended variants
information (count: 1631 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1631 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6912923	chr6:34538544-34538545	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs57126693	chr6:34538554-34538555	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6913396	chr6:34538578-34538579	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555712311	chr6:34538593-34538594	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs73409944	chr6:34538612-34538613	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538523448	chr6:34538628-34538629	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373371883	chr6:34538699-34538700	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs116642455	chr6:34538720-34538721	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs143841589	chr6:34538815-34538816	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560253488	chr6:34538840-34538841	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186388484	chr6:34538848-34538849	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542384428	chr6:34538888-34538889	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375332930	chr6:34538934-34538935	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs80147605	chr6:34538937-34538938	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560922490	chr6:34538946-34538947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs386406670	chr6:34538950-34538951	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs71000070	chr6:34538953-34538954	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531754450	chr6:34538959-34538960	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs9469805	chr6:34538976-34538977	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571513949	chr6:34538983-34538984	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564839217	chr6:34538993-34538994	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371048068	chr6:34539024-34539025	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs200573056	chr6:34539052-34539053	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs67764146	chr6:34539055-34539056	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs76290075	chr6:34539057-34539058	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372936796	chr6:34539061-34539062	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs376234040	chr6:34539065-34539066	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112075481	chr6:34539081-34539082	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370626894	chr6:34539190-34539191	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534285335	chr6:34539191-34539192	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190689574	chr6:34539202-34539203	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs79039433	chr6:34539203-34539204	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs538248552	chr6:34539217-34539218	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201006439	chr6:34539222-34539223	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74292101	chr6:34539252-34539253	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs144643073	chr6:34539262-34539263	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145468380	chr6:34539271-34539272	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs148812662	chr6:34539281-34539282	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112039465	chr6:34539283-34539284	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141781998	chr6:34539287-34539288	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371110751	chr6:34539289-34539290	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187920183	chr6:34539298-34539299	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs117748192	chr6:34539305-34539306	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs116347506	chr6:34539316-34539317	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs564810738	chr6:34539350-34539351	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191223895	chr6:34539362-34539363	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs540962963	chr6:34539373-34539374	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs560639621	chr6:34539375-34539376	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs532082552	chr6:34539376-34539377	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549413375	chr6:34539387-34539388	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1519 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34528800-34542200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:34528800-34551400	Weak transcription	Right Atrium	heart
3	chr6:34530200-34548000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:34532800-34548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:34535200-34544200	Weak transcription	Spleen	Spleen
6	chr6:34535400-34542800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:34535600-34563200	Weak transcription	A549	lung
8	chr6:34536200-34539200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:34536400-34545600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:34536800-34539400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:34536800-34542200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:34536800-34554400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:34536800-34556600	Weak transcription	Hela-S3	cervix
14	chr6:34537000-34542000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:34537000-34542200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:34537000-34542200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:34537400-34552800	Weak transcription	Fetal Intestine Large	intestine
18	chr6:34538000-34538800	Enhancers	Esophagus	oesophagus
19	chr6:34538000-34544000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:34538000-34555400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:34538200-34538600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:34538200-34538600	Weak transcription	Right Ventricle	heart
23	chr6:34538200-34539000	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr6:34538200-34541400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:34538400-34539000	Enhancers	K562	blood
26	chr6:34538400-34539400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:34538600-34538800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr6:34538600-34538800	Enhancers	Right Ventricle	heart
29	chr6:34538600-34538800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr6:34538800-34539600	Enhancers	Adipose Nuclei	Adipose
31	chr6:34538800-34541800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:34538800-34550600	Weak transcription	Esophagus	oesophagus
33	chr6:34538800-34552600	Weak transcription	Right Ventricle	heart
34	chr6:34539000-34539400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr6:34539000-34539400	Weak transcription	K562	blood
36	chr6:34539000-34539600	Bivalent Enhancer	HepG2	liver
37	chr6:34539000-34539800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr6:34539200-34540000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:34539400-34539600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:34539400-34539600	Enhancers	K562	blood
41	chr6:34539400-34540200	Enhancers	Fetal Muscle Leg	muscle
42	chr6:34539400-34540400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:34539600-34540000	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr6:34539600-34541600	Weak transcription	HepG2	liver
45	chr6:34539600-34542200	Weak transcription	K562	blood
46	chr6:34539600-34552800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:34540200-34540800	Bivalent Enhancer	Colonic Mucosa	Colon
48	chr6:34540200-34548800	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:34540400-34542200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:34540600-34541000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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