Variant report

Variant	esv2763440
Chromosome Location	chr5:17435439-17481599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:205)
CpG islands
(count:123)
Chromatin interactive
region (count:14)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:205 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr5:17443879-17444164	K562	blood:	n/a	n/a
2	BCLAF1	chr5:17436516-17437140	GM12878	blood:	n/a	n/a
3	BHLHE40	chr5:17456049-17456242	GM12878	blood:	n/a	n/a
4	CEBPB	chr5:17443942-17444214	A549	lung:	n/a	n/a
5	CEBPB	chr5:17449024-17449337	HepG2	liver:	n/a	chr5:17449175-17449186
6	CEBPB	chr5:17449019-17449300	K562	blood:	n/a	chr5:17449175-17449186
7	CEBPB	chr5:17445308-17445697	MCF-7	breast:	n/a	n/a
8	CEBPB	chr5:17443930-17444116	HepG2	liver:	n/a	n/a
9	CEBPB	chr5:17449051-17449354	A549	lung:	n/a	chr5:17449175-17449186
10	CEBPB	chr5:17448970-17449405	A549	lung:	n/a	chr5:17449175-17449186
11	CEBPB	chr5:17449006-17449365	IMR90	lung:	n/a	chr5:17449175-17449186
12	CEBPB	chr5:17449048-17449320	Hela-S3	cervix:	n/a	chr5:17449175-17449186
13	CEBPB	chr5:17443973-17444164	K562	blood:	n/a	n/a
14	CEBPB	chr5:17444051-17444276	K562	blood:	n/a	n/a
15	CEBPB	chr5:17444001-17444214	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr5:17479590-17479792	HepG2	liver:	n/a	chr5:17479700-17479711
17	CEBPB	chr5:17479634-17479713	H1-hESC	embryonic stem cell:	n/a	chr5:17479700-17479711
18	CTCF	chr5:17443787-17443839	LNCaP	prostate:	n/a	n/a
19	CTCF	chr5:17443961-17444114	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr5:17438309-17438355	Pancreas_OC	pancreas:	n/a	chr5:17438327-17438348
21	CTCF	chr5:17443930-17444182	K562	blood:	n/a	n/a
22	CTCF	chr5:17451566-17451641	GM10248	blood:	n/a	n/a
23	CTCF	chr5:17464299-17464386	Fibrobl	skin:	n/a	n/a
24	CTCF	chr5:17468400-17468550	Caco-2	colon:	n/a	n/a
25	CTCF	chr5:17455504-17455521	K562	blood:	n/a	n/a
26	CTCF	chr5:17443660-17443810	NB4	blood:	n/a	n/a
27	CTCF	chr5:17443449-17443766	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr5:17438160-17438310	MCF-7	breast:	n/a	n/a
29	CTCF	chr5:17468400-17468550	HMF	breast:	n/a	n/a
30	CTCF	chr5:17438264-17438411	MCF-7	breast:	n/a	chr5:17438327-17438348
31	CTCF	chr5:17468443-17468530	GM19238	blood:	n/a	n/a
32	CTCF	chr5:17468454-17468538	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr5:17438160-17438425	H1-hESC	embryonic stem cell:	n/a	chr5:17438327-17438348
34	CTCF	chr5:17468340-17468490	AG10803	skin:	n/a	n/a
35	CTCF	chr5:17475913-17475990	LNCaP	prostate:	n/a	n/a
36	CTCF	chr5:17468421-17468568	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:17443831-17444144	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr5:17468470-17468546	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:17468380-17468610	GM12865	blood:	n/a	n/a
40	CTCF	chr5:17468445-17468539	GM19240	blood:	n/a	n/a
41	CTCF	chr5:17438300-17438372	H1-hESC	embryonic stem cell:	n/a	chr5:17438327-17438348
42	CTCF	chr5:17468520-17468670	AG04449	skin:	n/a	n/a
43	CTCF	chr5:17456671-17456690	Fibrobl	skin:	n/a	n/a
44	CTCF	chr5:17438301-17438368	LNCaP	prostate:	n/a	chr5:17438327-17438348
45	CTCF	chr5:17441928-17441962	GM13977	blood:	n/a	n/a
46	CTCF	chr5:17468380-17468530	GM12865	blood:	n/a	n/a
47	CTCF	chr5:17468461-17468498	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr5:17468460-17468610	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:17468500-17468650	GM12864	blood:	n/a	n/a
50	CTCF	chr5:17443602-17443683	K562	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17444401-17444451	GM19239	blood:	n/a
2	chr5:17444401-17444451	GM19239	blood:	n/a
3	chr5:17444401-17444451	HCM	heart:	n/a
4	chr5:17436715-17436765	HEK293	kidney:	embryo
5	chr5:17436715-17436765	GM12891	blood:	n/a
6	chr5:17436715-17436765	Caco-2	colon:	n/a
7	chr5:17444401-17444451	U87	brain:	n/a
8	chr5:17436715-17436765	ovcar-3	ovarian:	n/a
9	chr5:17436715-17436765	HCF	heart:	n/a
10	chr5:17444401-17444451	NHDF-neo	bronchial:	n/a
11	chr5:17436715-17436765	SKMC	muscle:	n/a
12	chr5:17436715-17436765	AG10803	skin:	n/a
13	chr5:17436715-17436765	GM12878	blood:	n/a
14	chr5:17444401-17444451	HCPEpiC	choroid plexus:	n/a
15	chr5:17436715-17436765	AG09319	gingival:	n/a
16	chr5:17436715-17436765	NH-A	brain:	n/a
17	chr5:17444401-17444451	CMK	blood:	n/a
18	chr5:17436715-17436765	ProgFib	skin:	n/a
19	chr5:17444401-17444451	Jurkat	blood:	n/a
20	chr5:17436715-17436765	HEEpiC	esophagus:	n/a
21	chr5:17436715-17436765	SK-N-SH	brain:	n/a
22	chr5:17444401-17444451	SK-N-SH_RA	brain:	n/a
23	chr5:17436715-17436765	HPAEpiC	pulmonary alveolar:	n/a
24	chr5:17436715-17436765	NHBE	bronchial:	n/a
25	chr5:17436715-17436765	HAEpiC	amniotic membrane:	n/a
26	chr5:17436715-17436765	Jurkat	blood:	n/a
27	chr5:17436715-17436765	HMEC	breast:	n/a
28	chr5:17444401-17444451	SK-N-MC	brain:	n/a
29	chr5:17444401-17444451	PrEC	prostate:	n/a
30	chr5:17436715-17436765	H1-hESC	embryonic stem cell:	embryo
31	chr5:17444401-17444451	SAEC	small airway:	n/a
32	chr5:17436715-17436765	PFSK-1	brain:	n/a
33	chr5:17444401-17444451	HAEpiC	amniotic membrane:	n/a
34	chr5:17436715-17436765	SK-N-SH_RA	brain:	n/a
35	chr5:17444401-17444451	Hepatocyte	liver:	n/a
36	chr5:17436715-17436765	PrEC	prostate:	n/a
37	chr5:17436715-17436765	HCPEpiC	choroid plexus:	n/a
38	chr5:17436715-17436765	K562	blood:	n/a
39	chr5:17436715-17436765	A549	lung:	n/a
40	chr5:17436715-17436765	Hepatocyte	liver:	n/a
41	chr5:17436715-17436765	GM12892	blood:	n/a
42	chr5:17444401-17444451	GM12891	blood:	n/a
43	chr5:17444401-17444451	MCF10A-Er-Src	breast:	n/a
44	chr5:17444401-17444451	GM12892	blood:	n/a
45	chr5:17444401-17444451	A549	lung:	n/a
46	chr5:17444401-17444451	HEEpiC	esophagus:	n/a
47	chr5:17444401-17444451	AG04449	skin:	fetal
48	chr5:17444401-17444451	BE2_C	brain:	n/a
49	chr5:17444401-17444451	AG09309	skin:	n/a
50	chr5:17436715-17436765	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
2	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
3	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
4	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
5	chr5:17223492..17225946-chr5:17474747..17476783,2	MCF-7	breast:
6	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
7	chr5:17444658..17447223-chr5:17452681..17454773,2	MCF-7	breast:
8	chr5:17446833..17449235-chr5:17452939..17454886,2	MCF-7	breast:
9	chr5:17216689..17219268-chr5:17450632..17453590,2	MCF-7	breast:
10	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:
11	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:
12	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
13	chr5:17445953..17448807-chr5:17455324..17457089,2	K562	blood:
14	chr5:17445129..17446748-chr5:17447906..17450127,2	MCF-7	breast:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-11	chr5:17456970-17457429	l_2885_chr5:17456969-17494846_brain
2	lnc-BASP1-4	chr5:17445736-17446039	XLOC_004309
3	lnc-BASP1-3	chr5:17441578-17441809	XLOC_004308
4	lnc-BASP1-3	chr5:17440223-17440293	XLOC_004308
5	lnc-BASP1-3	chr5:17441578-17442297	XLOC_004308
6	lnc-BASP1-11	chr5:17465001-17465207	l_2885_chr5:17456969-17494846_brain
7	lnc-BASP1-3	chr5:17440222-17440293	NONHSAT100641
8	lnc-BASP1-3	chr5:17436845-17437322	NONHSAT100641
9	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
10	lnc-MYO10-8	chr5:17437952-17438549	ucscGeneNc_uc003jga_2
11	lnc-BASP1-3	chr5:17437289-17437322	XLOC_004308
12	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
13	lnc-BASP1-3	chr5:17441578-17441803	XLOC_004308
14	lnc-BASP1-3	chr5:17441578-17441826	NONHSAT100634
15	lnc-BASP1-3	chr5:17441577-17441809	NONHSAT100641
16	lnc-MYO10-8	chr5:17440311-17440416	ucscGeneNc_uc003jga_2
17	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
18	lnc-BASP1-4	chr5:17477724-17477865	XLOC_004309
19	lnc-BASP1-3	chr5:17441578-17441787	XLOC_004308
20	lnc-BASP1-4	chr5:17444119-17444343	XLOC_004309
21	lnc-BASP1-11	chr5:17457474-17457838	l_2885_chr5:17456969-17494846_brain
22	lnc-BASP1-3	chr5:17441578-17442654	XLOC_004308
23	lnc-BASP1-3	chr5:17441578-17441846	XLOC_004308
24	lnc-BASP1-3	chr5:17436846-17437322	XLOC_004308

No data

Variant related genes	Relation type
ENSG00000251304	TF binding region
ENSG00000248455	TF binding region
ENSG00000249662	TF binding region
ENSG00000251304	CpG island
ENSG00000248455	CpG island
ENSG00000249662	CpG island
ENSG00000215196	chromatin interactions
ENSG00000176788	chromatin interactions
RNF41	miRNA target sites
RAE1	miRNA target sites
PRKCE	miRNA target sites

Extended variants
information (count: 1441 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1441 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531632242	chr5:17435460-17435461	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548631652	chr5:17435461-17435462	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568227444	chr5:17435481-17435482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192918824	chr5:17435547-17435548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs547632942	chr5:17435568-17435569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34692986	chr5:17435588-17435589	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs4702215	chr5:17435608-17435609	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs540152948	chr5:17435671-17435672	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556600321	chr5:17435687-17435688	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs6555003	chr5:17435696-17435697	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs537452723	chr5:17435740-17435741	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554655639	chr5:17435762-17435763	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77219813	chr5:17435771-17435772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs141408595	chr5:17435810-17435811	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs370144148	chr5:17435842-17435843	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201073142	chr5:17435859-17435860	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs397743133	chr5:17435871-17435872	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577043463	chr5:17435910-17435911	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182864065	chr5:17435913-17435914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560904714	chr5:17435949-17435950	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs187979095	chr5:17435957-17435958	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562658492	chr5:17436021-17436022	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531693444	chr5:17436025-17436026	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs192473268	chr5:17436061-17436062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561843974	chr5:17436073-17436074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527822071	chr5:17436074-17436075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183894373	chr5:17436133-17436134	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs572527231	chr5:17436139-17436140	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs116393741	chr5:17436150-17436151	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539659625	chr5:17436167-17436168	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs550408762	chr5:17436169-17436170	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs570256853	chr5:17436263-17436264	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547095654	chr5:17436275-17436276	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs189166599	chr5:17436302-17436303	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs554643503	chr5:17436303-17436304	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs539868514	chr5:17436306-17436307	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs574566396	chr5:17436366-17436367	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs192995495	chr5:17436371-17436372	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs367923158	chr5:17436373-17436374	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs553932301	chr5:17436375-17436376	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs576937283	chr5:17436402-17436403	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs550953967	chr5:17436412-17436413	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs372654921	chr5:17436425-17436426	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs143811112	chr5:17436463-17436464	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs78760590	chr5:17436477-17436478	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs541814329	chr5:17436525-17436526	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs561782296	chr5:17436544-17436545	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs527699993	chr5:17436548-17436549	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs184822237	chr5:17436549-17436550	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs564248038	chr5:17436591-17436592	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	19287141	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17430800-17463800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:17432400-17436000	Weak transcription	Placenta	Placenta
3	chr5:17434400-17436000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:17434400-17436400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:17434600-17436800	Weak transcription	Ovary	ovary
6	chr5:17435000-17436200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:17435200-17436000	Enhancers	Primary B cells from cord blood	blood
8	chr5:17435400-17436000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:17435400-17436400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:17435400-17436600	Enhancers	GM12878-XiMat	blood
11	chr5:17435400-17439000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:17435600-17436200	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:17435800-17436000	Weak transcription	Spleen	Spleen
14	chr5:17435800-17436200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:17435800-17436400	Enhancers	Adipose Nuclei	Adipose
16	chr5:17435800-17436600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:17436000-17436200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:17436000-17436200	Enhancers	Aorta	Aorta
19	chr5:17436000-17436200	Enhancers	Duodenum Mucosa	Duodenum
20	chr5:17436000-17436200	Enhancers	Rectal Smooth Muscle	rectum
21	chr5:17436000-17436400	Enhancers	Placenta	Placenta
22	chr5:17436000-17436400	Enhancers	Spleen	Spleen
23	chr5:17436000-17436600	Enhancers	Primary B cells from peripheral blood	blood
24	chr5:17436000-17436600	Enhancers	Fetal Kidney	kidney
25	chr5:17436000-17436600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:17436000-17437400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:17436000-17437400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr5:17436000-17437600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr5:17436000-17437800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr5:17436200-17436400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:17436200-17436400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:17436200-17436400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr5:17436200-17436600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:17436200-17436600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr5:17436200-17436600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:17436200-17436600	Enhancers	Osteobl	bone
37	chr5:17436200-17436800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr5:17436200-17436800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr5:17436200-17436800	Enhancers	Liver	Liver
40	chr5:17436200-17437600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:17436400-17436600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:17436400-17436600	Bivalent/Poised TSS	NHDF-Ad	bronchial
43	chr5:17436400-17436600	Flanking Active TSS	NHLF	lung
44	chr5:17436400-17436800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:17436400-17437200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:17436400-17437200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:17436400-17437200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr5:17436400-17437200	Active TSS	Adipose Nuclei	Adipose
49	chr5:17436400-17437200	Active TSS	Colon Smooth Muscle	Colon
50	chr5:17436400-17437400	Enhancers	Stomach Mucosa	stomach

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