Variant report

Variant	nsv901970
Chromosome Location	chr14:56183127-56265176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:942)
CpG islands
(count:1284)
Chromatin interactive
region (count:33)
LncRNA
region (count:41)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:56263450-56263638	K562	blood:	n/a	n/a
2	ATF1	chr14:56247898-56248141	K562	blood:	n/a	n/a
3	BCL3	chr14:56219661-56220203	A549	lung:	n/a	n/a
4	BCL3	chr14:56219701-56220211	A549	lung:	n/a	n/a
5	BHLHE40	chr14:56263316-56263590	K562	blood:	n/a	n/a
6	BHLHE40	chr14:56229447-56229780	GM12878	blood:	n/a	n/a
7	BHLHE40	chr14:56229831-56229884	A549	lung:	n/a	n/a
8	BRCA1	chr14:56246845-56247541	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr14:56246068-56246093	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr14:56263500-56263523	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr14:56188055-56188395	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr14:56197253-56197700	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr14:56228642-56228829	HepG2	liver:	n/a	chr14:56228678-56228689
14	CEBPB	chr14:56216067-56216656	Hela-S3	cervix:	n/a	chr14:56216300-56216311 chr14:56216406-56216419
15	CEBPB	chr14:56219652-56220153	A549	lung:	n/a	n/a
16	CEBPB	chr14:56188084-56188481	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr14:56206687-56206907	H1-hESC	embryonic stem cell:	n/a	chr14:56206808-56206819 chr14:56206810-56206821 chr14:56206808-56206821 chr14:56206810-56206819
18	CEBPB	chr14:56256171-56256521	Hela-S3	cervix:	n/a	chr14:56256172-56256189
19	CEBPB	chr14:56216059-56216612	A549	lung:	n/a	chr14:56216300-56216311 chr14:56216406-56216419
20	CEBPB	chr14:56206691-56206967	K562	blood:	n/a	chr14:56206808-56206819 chr14:56206810-56206821 chr14:56206808-56206821 chr14:56206810-56206819
21	CEBPB	chr14:56219535-56220200	A549	lung:	n/a	n/a
22	CEBPB	chr14:56206659-56207049	ECC-1	luminal epithelium:	n/a	chr14:56206808-56206819 chr14:56206955-56206972 chr14:56206810-56206821 chr14:56206808-56206821 chr14:56206810-56206819
23	CEBPB	chr14:56246757-56247826	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr14:56216015-56216706	A549	lung:	n/a	chr14:56216300-56216311 chr14:56216406-56216419
25	CEBPB	chr14:56216122-56216556	A549	lung:	n/a	chr14:56216300-56216311 chr14:56216406-56216419
26	CEBPB	chr14:56258052-56258258	MCF-7	breast:	n/a	chr14:56258134-56258151
27	CEBPB	chr14:56219448-56220140	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr14:56216043-56216564	MCF-7	breast:	n/a	chr14:56216300-56216311 chr14:56216406-56216419
29	CEBPB	chr14:56219573-56220424	MCF-7	breast:	n/a	n/a
30	CEBPB	chr14:56206642-56207436	Hela-S3	cervix:	n/a	chr14:56206808-56206819 chr14:56206955-56206972 chr14:56206810-56206821 chr14:56206808-56206821 chr14:56206810-56206819
31	CEBPB	chr14:56206596-56207023	MCF-7	breast:	n/a	chr14:56206808-56206819 chr14:56206955-56206972 chr14:56206810-56206821 chr14:56206808-56206821 chr14:56206810-56206819
32	CEBPB	chr14:56206661-56206992	HepG2	liver:	n/a	chr14:56206808-56206819 chr14:56206955-56206972 chr14:56206810-56206821 chr14:56206808-56206821 chr14:56206810-56206819
33	CEBPB	chr14:56182718-56183154	IMR90	lung:	n/a	chr14:56182875-56182883
34	CEBPB	chr14:56256097-56256569	MCF-7	breast:	n/a	chr14:56256172-56256189
35	CEBPB	chr14:56219651-56220076	ECC-1	luminal epithelium:	n/a	n/a
36	CEBPB	chr14:56215995-56216640	MCF-7	breast:	n/a	chr14:56216300-56216311 chr14:56216406-56216419
37	CEBPB	chr14:56200151-56200351	HepG2	liver:	n/a	n/a
38	CEBPB	chr14:56257612-56257776	IMR90	lung:	n/a	n/a
39	CEBPB	chr14:56219644-56220147	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr14:56261358-56262134	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr14:56247933-56248278	K562	blood:	n/a	n/a
42	CEBPB	chr14:56188104-56188471	IMR90	lung:	n/a	n/a
43	CEBPB	chr14:56216172-56216500	HepG2	liver:	n/a	chr14:56216300-56216311 chr14:56216406-56216419
44	CEBPB	chr14:56206674-56206953	IMR90	lung:	n/a	chr14:56206808-56206819 chr14:56206810-56206821 chr14:56206808-56206821 chr14:56206810-56206819
45	CEBPB	chr14:56257520-56258686	Hela-S3	cervix:	n/a	chr14:56258134-56258151
46	CEBPB	chr14:56206649-56206928	A549	lung:	n/a	chr14:56206808-56206819 chr14:56206810-56206821 chr14:56206808-56206821 chr14:56206810-56206819
47	CEBPB	chr14:56216081-56216495	H1-hESC	embryonic stem cell:	n/a	chr14:56216300-56216311 chr14:56216406-56216419
48	CEBPB	chr14:56216122-56216559	IMR90	lung:	n/a	chr14:56216300-56216311 chr14:56216406-56216419
49	CEBPB	chr14:56206606-56206988	ECC-1	luminal epithelium:	n/a	chr14:56206808-56206819 chr14:56206955-56206972 chr14:56206810-56206821 chr14:56206808-56206821 chr14:56206810-56206819
50	CHD2	chr14:56234598-56234745	K562	blood:	n/a	n/a

(count:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:56264322-56264372	HPAEpiC	pulmonary alveolar:	n/a
2	chr14:56216951-56217001	H1-hESC	embryonic stem cell:	embryo
3	chr14:56216951-56217001	GM19239	blood:	n/a
4	chr14:56264322-56264372	HPAEpiC	pulmonary alveolar:	n/a
5	chr14:56216951-56217001	H1-hESC	embryonic stem cell:	embryo
6	chr14:56216951-56217001	GM19239	blood:	n/a
7	chr14:56247892-56247942	IMR90	lung:	fetal
8	chr14:56231604-56231654	MCF10A-Er-Src	breast:	n/a
9	chr14:56229661-56229711	AoSMC	blood vessel:	n/a
10	chr14:56257750-56257800	RPTEC	kidney:	n/a
11	chr14:56231604-56231654	MCF-7	breast:	n/a
12	chr14:56232921-56232971	BE2_C	brain:	n/a
13	chr14:56225464-56225514	GM12878	blood:	n/a
14	chr14:56232650-56232700	GM06990	blood:	n/a
15	chr14:56231604-56231654	SK-N-SH_RA	brain:	n/a
16	chr14:56247892-56247942	NHDF-neo	bronchial:	n/a
17	chr14:56247892-56247942	T-47D	breast:	n/a
18	chr14:56247892-56247942	H1-hESC	embryonic stem cell:	embryo
19	chr14:56264651-56264701	ECC-1	luminal epithelium:	n/a
20	chr14:56225464-56225514	SKMC	muscle:	n/a
21	chr14:56232985-56233035	U87	brain:	n/a
22	chr14:56207327-56207377	AG09319	gingival:	n/a
23	chr14:56233178-56233228	AG10803	skin:	n/a
24	chr14:56219430-56219480	Hepatocyte	liver:	n/a
25	chr14:56231604-56231654	RPTEC	kidney:	n/a
26	chr14:56207327-56207377	HNPCEpiC	eye:	n/a
27	chr14:56233676-56233726	HEK293	kidney:	embryo
28	chr14:56232813-56232863	H1-hESC	embryonic stem cell:	embryo
29	chr14:56232650-56232700	MCF-7	breast:	n/a
30	chr14:56225464-56225514	HL-60	blood:	n/a
31	chr14:56231604-56231654	HEEpiC	esophagus:	n/a
32	chr14:56232813-56232863	BJ	skin:	n/a
33	chr14:56233068-56233118	SAEC	small airway:	n/a
34	chr14:56232813-56232863	MCF-7	breast:	n/a
35	chr14:56264651-56264701	HRE	kidney:	n/a
36	chr14:56219430-56219480	MCF-7	breast:	n/a
37	chr14:56264572-56264622	AoSMC	blood vessel:	n/a
38	chr14:56225464-56225514	MCF10A-Er-Src	breast:	n/a
39	chr14:56231604-56231654	GM12891	blood:	n/a
40	chr14:56232813-56232863	HPAEpiC	pulmonary alveolar:	n/a
41	chr14:56233068-56233118	AoSMC	blood vessel:	n/a
42	chr14:56225464-56225514	LNCaP	prostate:	n/a
43	chr14:56216951-56217001	HCPEpiC	choroid plexus:	n/a
44	chr14:56232921-56232971	HEK293	kidney:	embryo
45	chr14:56232921-56232971	PrEC	prostate:	n/a
46	chr14:56228816-56228866	HEK293	kidney:	embryo
47	chr14:56233068-56233118	HCF	heart:	n/a
48	chr14:56233676-56233726	BJ	skin:	n/a
49	chr14:56207327-56207377	HEK293	kidney:	embryo
50	chr14:56264572-56264622	Hela-S3	cervix:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:56207915..56209917-chr14:56216169..56218035,2	MCF-7	breast:
2	chr14:56220561..56223458-chr14:56223829..56226647,2	K562	blood:
3	chr14:56224023..56226441-chr14:56261049..56262918,2	MCF-7	breast:
4	chr14:56215726..56218304-chr14:56218749..56222273,3	K562	blood:
5	chr14:56178438..56180249-chr14:56182200..56183742,2	K562	blood:
6	chr14:56209875..56212045-chr14:56256095..56258296,2	MCF-7	breast:
7	chr14:56209789..56211421-chr14:56215723..56218469,2	MCF-7	breast:
8	chr14:56248252..56249940-chr14:56263162..56264665,2	MCF-7	breast:
9	chr14:56264314..56267640-chr14:56270614..56273646,3	K562	blood:
10	chr14:56198273..56199200-chr14:56551636..56552463,2	MCF-7	breast:
11	chr14:56264106..56265769-chr14:56291458..56293554,2	MCF-7	breast:
12	chr14:56197898..56198585-chr14:56888977..56889535,2	MCF-7	breast:
13	chr14:56245870..56248010-chr14:56260063..56261577,2	K562	blood:
14	chr14:56220561..56223458-chr14:56223829..56226647,2	K562	blood:
15	chr14:56219849..56221518-chr14:56225046..56227362,2	MCF-7	breast:
16	chr14:56221789..56224702-chr14:56769776..56771612,2	K562	blood:
17	chr14:56226675..56229343-chr14:56231799..56234788,2	K562	blood:
18	chr14:56263621..56267640-chr14:56269558..56273646,4	K562	blood:
19	chr14:56215726..56218304-chr14:56218749..56222273,3	K562	blood:
20	chr14:56260506..56263007-chr14:56264941..56267935,2	K562	blood:
21	chr14:56260506..56263007-chr14:56264941..56267935,2	K562	blood:
22	chr14:56224023..56226441-chr14:56261049..56262918,2	MCF-7	breast:
23	chr14:56209789..56211421-chr14:56215723..56218469,2	MCF-7	breast:
24	chr14:56207915..56209917-chr14:56216169..56218035,2	MCF-7	breast:
25	chr14:56219849..56221518-chr14:56225046..56227362,2	MCF-7	breast:
26	chr14:56207089..56208058-chr14:56265155..56265723,2	MCF-7	breast:
27	chr14:56207089..56208058-chr14:56265155..56265723,2	MCF-7	breast:
28	chr14:56256977..56259600-chr14:56273193..56275837,3	K562	blood:
29	chr14:56198307..56199262-chr14:56551982..56552868,6	MCF-7	breast:
30	chr14:56238761..56241278-chr14:56243560..56245184,2	MCF-7	breast:
31	chr14:56198714..56199586-chr14:56889085..56889797,2	MCF-7	breast:
32	chr14:56238761..56241278-chr14:56243560..56245184,2	MCF-7	breast:
33	chr14:56209875..56212045-chr14:56256095..56258296,2	MCF-7	breast:

(count:41 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KTN1-AS1-1	chr14:56259443-56260174	ENSG00000258791.2
2	lnc-KTN1-AS1-1	chr14:56263321-56263392	XLOC_011037
3	lnc-KTN1-AS1-1	chr14:56263323-56263406	ENSG00000258791.2
4	lnc-KTN1-AS1-1	chr14:56259764-56259828	NONHSAT037025
5	lnc-KTN1-AS1-1	chr14:56261002-56261063	ENSG00000258791.2
6	lnc-KTN1-AS1-1	chr14:56248785-56249492	ENSG00000258791.3
7	lnc-KTN1-AS1-1	chr14:56260086-56260174	ENSG00000258791.2
8	lnc-KTN1-AS1-1	chr14:56260086-56260174	ENSG00000258791.3
9	lnc-KTN1-AS1-1	chr14:56247864-56248070	ENSG00000258791.2
10	lnc-KTN1-AS1-1	chr14:56260086-56260174	XLOC_011037
11	lnc-KTN1-AS1-1	chr14:56263321-56263392	ENSG00000258791.2
12	lnc-KTN1-AS1-1	chr14:56260086-56260174	NONHSAT037027
13	lnc-KTN1-AS1-1	chr14:56263265-56263417	NONHSAT037025
14	lnc-KTN1-AS1-1	chr14:56247800-56248072	NONHSAT037025
15	lnc-KTN1-AS1-1	chr14:56263321-56263374	ENSG00000258791.2
16	lnc-KTN1-AS1-1	chr14:56260086-56260174	NONHSAT037026
17	lnc-KTN1-AS1-1	chr14:56260086-56260174	ENSG00000258791.2
18	lnc-KTN1-AS1-1	chr14:56263321-56263406	ENSG00000258791.3
19	lnc-KTN1-AS1-1	chr14:56249144-56249698	ENSG00000258791.2
20	lnc-KTN1-AS1-1	chr14:56247432-56247714	NONHSAT037025
21	lnc-KTN1-AS1-1	chr14:56254645-56255094	ENSG00000258791.2
22	lnc-KTN1-1	chr14:56214926-56215000	ENSG00000258784.1
23	lnc-KTN1-AS1-1	chr14:56260086-56260174	ENSG00000258791.2
24	lnc-KTN1-AS1-1	chr14:56263321-56263392	NONHSAT037027
25	lnc-KTN1-AS1-1	chr14:56249127-56249299	ENSG00000258791.2
26	lnc-KTN1-AS1-1	chr14:56263321-56263392	NONHSAT037026
27	lnc-KTN1-AS1-1	chr14:56261002-56261063	NONHSAT037026
28	lnc-KTN1-2	chr14:56221453-56222019	NONHSAT037023
29	lnc-KTN1-AS1-1	chr14:56247854-56249698	XLOC_011037
30	lnc-KTN1-AS1-1	chr14:56260086-56260178	NONHSAT037025
31	lnc-KTN1-AS1-1	chr14:56247853-56249698	NONHSAT037027
32	lnc-KTN1-AS1-1	chr14:56247853-56249698	NONHSAT037026
33	lnc-KTN1-AS1-1	chr14:56263321-56263357	ENSG00000258791.2
34	lnc-KTN1-1	chr14:56239707-56239921	ENSG00000258784.1
35	lnc-KTN1-AS1-1	chr14:56261002-56261063	ENSG00000258791.2
36	lnc-KTN1-1	chr14:56238349-56238423	ENSG00000258784.1
37	lnc-KTN1-AS1-1	chr14:56260015-56260078	ENSG00000258791.2
38	lnc-KTN1-AS1-1	chr14:56263321-56263406	ENSG00000258791.2
39	lnc-KTN1-1	chr14:56239474-56239567	ENSG00000258784.1
40	lnc-KTN1-AS1-1	chr14:56248785-56249492	ENSG00000258791.2
41	lnc-KTN1-AS1-1	chr14:56261002-56261063	ENSG00000258791.2

No data

Variant related genes	Relation type
LINC00520	TF binding region
ENSG00000258784	TF binding region
RPL13AP3	TF binding region
LINC00520	CpG island
ENSG00000258784	CpG island
RPL13AP3	CpG island
ENSG00000258791	chromatin interactions
ENSG00000177350	chromatin interactions

Extended variants
information (count: 3248 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3248 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12587803	chr14:56183127-56183128	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376102815	chr14:56183144-56183145	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs192933903	chr14:56183201-56183202	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs143281646	chr14:56183229-56183230	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs551329455	chr14:56183272-56183273	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs148303114	chr14:56183275-56183276	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs571155630	chr14:56183319-56183320	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs527340904	chr14:56183323-56183324	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs549602882	chr14:56183329-56183330	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs567857917	chr14:56183376-56183377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs538572461	chr14:56183384-56183385	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs556565875	chr14:56183405-56183406	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs533260488	chr14:56183418-56183419	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs547107298	chr14:56183426-56183427	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs567176398	chr14:56183463-56183464	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs150484054	chr14:56183497-56183498	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs201210391	chr14:56183504-56183505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs538681039	chr14:56183531-56183532	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs138456256	chr14:56183540-56183541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs12323550	chr14:56183542-56183543	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs542707029	chr14:56183543-56183544	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs555181898	chr14:56183580-56183581	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs369321145	chr14:56183646-56183647	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs563235606	chr14:56183650-56183651	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs562662357	chr14:56183676-56183677	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs140117987	chr14:56183678-56183679	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs35848746	chr14:56183681-56183682	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs185117612	chr14:56183685-56183686	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs560145143	chr14:56183709-56183710	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs187019303	chr14:56183732-56183733	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs191654871	chr14:56183821-56183822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567896036	chr14:56183844-56183845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531793450	chr14:56183845-56183846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183757663	chr14:56183904-56183905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550324789	chr14:56183971-56183972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535862827	chr14:56183988-56183989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571854291	chr14:56184009-56184010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367819974	chr14:56184022-56184023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116437255	chr14:56184023-56184024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76445830	chr14:56184029-56184030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536379531	chr14:56184030-56184031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569577484	chr14:56184093-56184094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192626944	chr14:56184109-56184110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73289545	chr14:56184141-56184142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556284071	chr14:56184151-56184152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113840384	chr14:56184171-56184172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528899365	chr14:56184189-56184190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545319446	chr14:56184223-56184224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560232393	chr14:56184224-56184225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572057274	chr14:56184304-56184305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	21163964	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
2	chr14:56154000-56191000	Weak transcription	Aorta	Aorta
3	chr14:56178200-56183400	Weak transcription	Left Ventricle	heart
4	chr14:56179800-56188800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:56179800-56189000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:56180000-56183200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:56180800-56183200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:56182200-56183400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:56182200-56183400	Enhancers	HSMM	muscle
10	chr14:56182200-56183400	Enhancers	HSMMtube	muscle
11	chr14:56182200-56183400	Enhancers	NH-A	brain
12	chr14:56182200-56184000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:56182400-56183400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:56182400-56183400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:56182400-56183400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:56182400-56183400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:56182400-56183400	Enhancers	Adipose Nuclei	Adipose
18	chr14:56182400-56183400	Enhancers	Placenta	Placenta
19	chr14:56182400-56183400	Enhancers	GM12878-XiMat	blood
20	chr14:56182400-56183400	Bivalent Enhancer	HMEC	breast
21	chr14:56182400-56183400	Enhancers	NHLF	lung
22	chr14:56182400-56183600	Enhancers	Osteobl	bone
23	chr14:56182600-56183200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:56182600-56183400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:56182600-56183600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:56182800-56183200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:56183000-56183400	Flanking Active TSS	NHDF-Ad	bronchial
28	chr14:56183200-56183400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:56183200-56183400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:56183200-56183400	Enhancers	Fetal Muscle Trunk	muscle
31	chr14:56183200-56183400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr14:56183400-56183600	Enhancers	NHDF-Ad	bronchial
33	chr14:56183400-56183800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:56183400-56183800	Enhancers	Left Ventricle	heart
35	chr14:56183400-56187600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:56183400-56187800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:56183400-56188000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:56183600-56183800	Bivalent Enhancer	Osteobl	bone
39	chr14:56185400-56185600	Enhancers	Right Ventricle	heart
40	chr14:56185400-56185600	Enhancers	HSMMtube	muscle
41	chr14:56185400-56185800	Enhancers	Hela-S3	cervix
42	chr14:56185600-56189200	Weak transcription	HSMMtube	muscle
43	chr14:56185800-56187600	Weak transcription	Hela-S3	cervix
44	chr14:56187600-56187800	Enhancers	HSMM	muscle
45	chr14:56187600-56188400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:56187600-56188600	Enhancers	NHDF-Ad	bronchial
47	chr14:56187600-56188800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:56187600-56188800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:56187600-56188800	Enhancers	NHEK	skin
50	chr14:56187600-56189200	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links