Variant report

Variant	esv2755940
Chromosome Location	chr14:69301705-69318262
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	chr14:69310607-69311005	K562	blood:	n/a	n/a
2	ARID3A	chr14:69310694-69310946	HepG2	liver:	n/a	n/a
3	ATF2	chr14:69310619-69310954	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr14:69310468-69311040	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr14:69310744-69311004	GM12878	blood:	n/a	n/a
6	BHLHE40	chr14:69310718-69310997	K562	blood:	n/a	n/a
7	BRCA1	chr14:69310810-69310841	GM12878	blood:	n/a	n/a
8	CBX3	chr14:69310569-69311181	HCT-116	colon:	n/a	n/a
9	CBX3	chr14:69310643-69311065	K562	blood:	n/a	n/a
10	CBX3	chr14:69310725-69310997	K562	blood:	n/a	n/a
11	CEBPB	chr14:69313246-69313530	K562	blood:	n/a	chr14:69313404-69313415
12	CEBPB	chr14:69313168-69313627	MCF-7	breast:	n/a	chr14:69313404-69313415
13	CEBPB	chr14:69313243-69313565	HepG2	liver:	n/a	chr14:69313404-69313415
14	CEBPB	chr14:69307343-69307482	K562	blood:	n/a	chr14:69307433-69307444
15	CEBPB	chr14:69307336-69307582	HepG2	liver:	n/a	chr14:69307433-69307444
16	CEBPB	chr14:69307328-69307524	A549	lung:	n/a	chr14:69307433-69307444
17	CEBPB	chr14:69307303-69307600	IMR90	lung:	n/a	chr14:69307433-69307444
18	CHD1	chr14:69310655-69310797	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr14:69310652-69310896	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr14:69310740-69310890	HVMF	connective:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
21	CTCF	chr14:69310820-69310970	GM12864	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
22	CTCF	chr14:69310560-69310710	GM12870	blood:	n/a	n/a
23	CTCF	chr14:69310780-69310930	HCPEpiC	choroid plexus:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
24	CTCF	chr14:69310715-69311006	MCF-7	breast:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
25	CTCF	chr14:69310800-69310950	GM12878	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
26	CTCF	chr14:69311160-69311310	AG10803	skin:	n/a	n/a
27	CTCF	chr14:69313160-69313310	RPTEC	kidney:	n/a	n/a
28	CTCF	chr14:69310746-69310984	GM13976	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
29	CTCF	chr14:69310719-69311013	GM12891	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
30	CTCF	chr14:69310700-69310850	HFF	foreskin:	n/a	n/a
31	CTCF	chr14:69310684-69310961	HepG2	liver:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
32	CTCF	chr14:69310780-69310930	HL-60	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
33	CTCF	chr14:69311122-69311201	GM13977	blood:	n/a	n/a
34	CTCF	chr14:69310820-69310970	GM12868	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
35	CTCF	chr14:69310629-69310997	A549	lung:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
36	CTCF	chr14:69310780-69310930	GM12871	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
37	CTCF	chr14:69310729-69310986	Hela-S3	cervix:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
38	CTCF	chr14:69310716-69311006	Gliobla	brain:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
39	CTCF	chr14:69310780-69310930	GM12868	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
40	CTCF	chr14:69310760-69310910	AG09319	gingival:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
41	CTCF	chr14:69310780-69310930	GM12873	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
42	CTCF	chr14:69309940-69310090	GM12867	blood:	n/a	n/a
43	CTCF	chr14:69310780-69310930	GM12870	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
44	CTCF	chr14:69310721-69310990	GM10266	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
45	CTCF	chr14:69310576-69310620	GM13977	blood:	n/a	n/a
46	CTCF	chr14:69310800-69310950	GM12865	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
47	CTCF	chr14:69310719-69311003	GM12892	blood:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
48	CTCF	chr14:69310711-69310982	Lung_OC	lung:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
49	CTCF	chr14:69310800-69310950	Hela-S3	cervix:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857
50	CTCF	chr14:69310649-69310984	A549	lung:	n/a	chr14:69310848-69310856 chr14:69310842-69310858 chr14:69310843-69310856 chr14:69310843-69310856 chr14:69310841-69310859 chr14:69310836-69310857

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69310864-69310914	HCT-116	colon:	n/a
2	chr14:69310864-69310914	SK-N-MC	brain:	n/a
3	chr14:69310864-69310914	HCT-116	colon:	n/a
4	chr14:69310864-69310914	SK-N-MC	brain:	n/a
5	chr14:69309405-69309455	GM19239	blood:	n/a
6	chr14:69310844-69310894	K562	blood:	n/a
7	chr14:69309405-69309455	HMEC	breast:	n/a
8	chr14:69310864-69310914	NHDF-neo	bronchial:	n/a
9	chr14:69310844-69310894	HRE	kidney:	n/a
10	chr14:69310844-69310894	HNPCEpiC	eye:	n/a
11	chr14:69309405-69309455	Caco-2	colon:	n/a
12	chr14:69309405-69309455	H1-hESC	embryonic stem cell:	embryo
13	chr14:69310864-69310914	MCF10A-Er-Src	breast:	n/a
14	chr14:69310844-69310894	HEK293	kidney:	embryo
15	chr14:69310864-69310914	HepG2	liver:	n/a
16	chr14:69310844-69310894	HRCEpiC	kidney:	n/a
17	chr14:69310864-69310914	MCF-7	breast:	n/a
18	chr14:69309405-69309455	T-47D	breast:	n/a
19	chr14:69309405-69309455	BE2_C	brain:	n/a
20	chr14:69310864-69310914	HRPEpiC	eye:	n/a
21	chr14:69309405-69309455	HRCEpiC	kidney:	n/a
22	chr14:69309405-69309455	HAEpiC	amniotic membrane:	n/a
23	chr14:69309405-69309455	Jurkat	blood:	n/a
24	chr14:69310864-69310914	K562	blood:	n/a
25	chr14:69309405-69309455	AoSMC	blood vessel:	n/a
26	chr14:69309405-69309455	AG10803	skin:	n/a
27	chr14:69310864-69310914	NHBE	bronchial:	n/a
28	chr14:69310864-69310914	BJ	skin:	n/a
29	chr14:69310864-69310914	HRE	kidney:	n/a
30	chr14:69310844-69310894	CMK	blood:	n/a
31	chr14:69310844-69310894	AG09319	gingival:	n/a
32	chr14:69310864-69310914	A549	lung:	n/a
33	chr14:69310864-69310914	AoSMC	blood vessel:	n/a
34	chr14:69310844-69310894	ovcar-3	ovarian:	n/a
35	chr14:69309405-69309455	HEK293	kidney:	embryo
36	chr14:69310844-69310894	GM06990	blood:	n/a
37	chr14:69310864-69310914	PrEC	prostate:	n/a
38	chr14:69310844-69310894	ProgFib	skin:	n/a
39	chr14:69310844-69310894	GM12892	blood:	n/a
40	chr14:69310844-69310894	SK-N-SH	brain:	n/a
41	chr14:69310844-69310894	HepG2	liver:	n/a
42	chr14:69309405-69309455	BJ	skin:	n/a
43	chr14:69309405-69309455	NH-A	brain:	n/a
44	chr14:69310864-69310914	SK-N-SH_RA	brain:	n/a
45	chr14:69310844-69310894	HUVEC	blood vessel:	n/a
46	chr14:69310864-69310914	PFSK-1	brain:	n/a
47	chr14:69310844-69310894	HRPEpiC	eye:	n/a
48	chr14:69310844-69310894	SKMC	muscle:	n/a
49	chr14:69310864-69310914	HCM	heart:	n/a
50	chr14:69310844-69310894	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69247911..69250643-chr14:69303141..69305926,2	MCF-7	breast:
2	chr14:69310440..69310975-chr14:69320264..69321205,2	MCF-7	breast:
3	chr14:69291332..69292211-chr14:69310396..69311019,5	MCF-7	breast:
4	chr14:69259380..69263857-chr14:69306830..69310059,5	MCF-7	breast:
5	chr14:69303424..69306319-chr14:69309127..69313169,3	MCF-7	breast:
6	chr14:68400449..68401133-chr14:69310362..69311096,2	MCF-7	breast:
7	chr14:68410292..68410837-chr14:69310354..69311298,3	K562	blood:
8	chr14:69257443..69263267-chr14:69305982..69312258,9	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTN1-2	chr14:69302753-69304183	refGeneNc_3173_NR_029378
2	lnc-RAD51B-2	chr14:69312519-69312772	NONHSAT037496

Variant related genes	Relation type
RN7SL224P	TF binding region
RN7SL224P	CpG island
ENSG00000263694	chromatin interactions
ENSG00000185650	chromatin interactions

Extended variants
information (count: 584 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10873217	chr14:69301705-69301706	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531540809	chr14:69301737-69301738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376222116	chr14:69301751-69301752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs67960954	chr14:69301773-69301774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372545851	chr14:69301774-69301775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150307487	chr14:69301818-69301819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs194740	chr14:69301835-69301836	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs194739	chr14:69301874-69301875	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs112736431	chr14:69301897-69301898	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547402142	chr14:69301908-69301909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192186560	chr14:69301942-69301943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184733544	chr14:69301991-69301992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12897411	chr14:69302035-69302036	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs77274755	chr14:69302037-69302038	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs142067838	chr14:69302038-69302039	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs174214	chr14:69302060-69302061	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12897555	chr14:69302065-69302066	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs59880981	chr14:69302087-69302088	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537251107	chr14:69302126-69302127	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555639471	chr14:69302158-69302159	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373182606	chr14:69302159-69302160	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs145919452	chr14:69302176-69302177	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs541013800	chr14:69302178-69302179	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs555498523	chr14:69302220-69302221	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs577970287	chr14:69302315-69302316	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs545441060	chr14:69302351-69302352	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4288924	chr14:69302399-69302400	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs194738	chr14:69302410-69302411	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550040811	chr14:69302430-69302431	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371390629	chr14:69302487-69302488	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs561948067	chr14:69302533-69302534	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529231365	chr14:69302539-69302540	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs547396747	chr14:69302617-69302618	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138844090	chr14:69302727-69302728	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117466285	chr14:69302739-69302740	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551409493	chr14:69302747-69302748	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566569534	chr14:69302787-69302788	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs577842884	chr14:69302792-69302793	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs569459117	chr14:69302807-69302808	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs189549763	chr14:69302838-69302839	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs77914445	chr14:69302842-69302843	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs192578978	chr14:69302901-69302902	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs184248215	chr14:69302919-69302920	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs189561887	chr14:69302944-69302945	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs60396536	chr14:69302954-69302955	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs181256677	chr14:69302958-69302959	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs545116823	chr14:69303002-69303003	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs60589455	chr14:69303026-69303027	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568870009	chr14:69303097-69303098	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs186734572	chr14:69303169-69303170	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69284200-69305600	Weak transcription	HSMMtube	muscle
2	chr14:69287200-69302800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:69288200-69304400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:69290200-69302200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:69290200-69302200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:69290200-69307200	Weak transcription	HMEC	breast
7	chr14:69291200-69304800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:69291600-69302200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:69291600-69302600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:69291800-69304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:69296000-69304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:69300200-69303000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:69300400-69304000	Weak transcription	Aorta	Aorta
14	chr14:69300600-69307600	Strong transcription	HSMM	muscle
15	chr14:69301200-69302200	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:69301200-69307400	Strong transcription	NH-A	brain
17	chr14:69301600-69302000	Weak transcription	GM12878-XiMat	blood
18	chr14:69301800-69302000	Enhancers	Lung	lung
19	chr14:69302000-69302400	ZNF genes & repeats	GM12878-XiMat	blood
20	chr14:69302000-69302600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:69302000-69305200	Weak transcription	Lung	lung
22	chr14:69302200-69303200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr14:69302200-69303200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:69302200-69303200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr14:69302200-69308200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:69302400-69302800	Weak transcription	Osteobl	bone
27	chr14:69302600-69303200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:69302600-69303400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:69302800-69303200	ZNF genes & repeats	Osteobl	bone
30	chr14:69302800-69306400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:69303000-69303400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:69303200-69305600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:69303200-69305800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:69303200-69307400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:69303200-69307400	Weak transcription	NHEK	skin
36	chr14:69303200-69308000	Weak transcription	Osteobl	bone
37	chr14:69303200-69310000	Weak transcription	Ovary	ovary
38	chr14:69303400-69304000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:69303400-69308000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:69303600-69307200	Weak transcription	NHLF	lung
41	chr14:69303800-69304400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:69304000-69304400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:69304000-69306400	Strong transcription	Aorta	Aorta
44	chr14:69304000-69307400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:69304200-69304600	Enhancers	HepG2	liver
46	chr14:69304200-69305200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:69304400-69306400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:69304400-69307600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:69304400-69308000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:69304800-69307200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links