Variant report

Variant	esv3421723
Chromosome Location	chr5:74346596-74351294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:410)
CpG islands
(count:732)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:74349551-74350155	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr5:74348686-74350492	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr5:74349196-74349715	HepG2	liver:	n/a	chr5:74349390-74349406 chr5:74349377-74349393 chr5:74349389-74349405
4	BRCA1	chr5:74349319-74349422	HepG2	liver:	n/a	n/a
5	BRCA1	chr5:74349979-74350422	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr5:74348656-74348704	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:74348978-74349139	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr5:74351209-74352017	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr5:74348623-74348748	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr5:74347519-74350428	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr5:74350645-74351820	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr5:74349347-74349703	HepG2	liver:	n/a	n/a
13	CHD2	chr5:74348665-74348815	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr5:74349147-74349199	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr5:74350149-74350361	HepG2	liver:	n/a	n/a
16	CHD2	chr5:74350013-74350679	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr5:74349300-74350258	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr5:74349249-74349726	A549	lung:	n/a	n/a
19	CREB1	chr5:74349380-74349941	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr5:74349080-74349230	GM12865	blood:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
21	CTCF	chr5:74349576-74349579	GM13976	blood:	n/a	n/a
22	CTCF	chr5:74349069-74349673	MCF-7	breast:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
23	CTCF	chr5:74348657-74348736	Fibrobl	skin:	n/a	n/a
24	CTCF	chr5:74348620-74348770	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr5:74349093-74349288	A549	lung:	n/a	chr5:74349166-74349179
26	CTCF	chr5:74349080-74349230	HMF	breast:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
27	CTCF	chr5:74349085-74349370	GM19238	blood:	n/a	chr5:74349166-74349179
28	CTCF	chr5:74348420-74348570	SAEC	small airway:	n/a	n/a
29	CTCF	chr5:74349160-74349310	GM12866	blood:	n/a	chr5:74349166-74349179
30	CTCF	chr5:74349080-74349230	GM06990	blood:	n/a	chr5:74349084-74349097 chr5:74349166-74349179
31	CTCF	chr5:74349120-74349270	AG04450	lung:	n/a	chr5:74349166-74349179
32	CTCF	chr5:74349140-74349290	NHEK	skin:	n/a	chr5:74349166-74349179
33	CTCF	chr5:74348540-74348690	GM12864	blood:	n/a	n/a
34	CTCF	chr5:74349120-74349270	MCF-7	breast:	n/a	chr5:74349166-74349179
35	CTCF	chr5:74348600-74348750	HMEC	breast:	n/a	n/a
36	CTCF	chr5:74349500-74349650	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr5:74349468-74349643	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:74349480-74349630	RPTEC	kidney:	n/a	n/a
39	CTCF	chr5:74349100-74349250	GM12878	blood:	n/a	chr5:74349166-74349179
40	CTCF	chr5:74349174-74349188	GM13977	blood:	n/a	n/a
41	CTCF	chr5:74346580-74346730	GM12874	blood:	n/a	n/a
42	CTCF	chr5:74349136-74349212	HepG2	liver:	n/a	chr5:74349166-74349179
43	CTCF	chr5:74349491-74349639	GM19240	blood:	n/a	n/a
44	CTCF	chr5:74349525-74349644	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr5:74349460-74349610	HCFaa	heart:	n/a	n/a
46	CTCF	chr5:74349486-74349628	GM12891	blood:	n/a	n/a
47	CTCF	chr5:74345555-74346674	MCF-7	breast:	n/a	n/a
48	CTCF	chr5:74348600-74348750	HVMF	connective:	n/a	n/a
49	CTCF	chr5:74349420-74349570	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:74349520-74349670	HUVEC	blood vessel:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74350132-74350182	Caco-2	colon:	n/a
2	chr5:74349804-74349854	NHBE	bronchial:	n/a
3	chr5:74349644-74349694	NB4	blood:	n/a
4	chr5:74350815-74350865	SK-N-MC	brain:	n/a
5	chr5:74348187-74348237	A549	lung:	n/a
6	chr5:74348187-74348237	GM06990	blood:	n/a
7	chr5:74350214-74350264	RPTEC	kidney:	n/a
8	chr5:74350815-74350865	NT2-D1	testis:	n/a
9	chr5:74350214-74350264	HPAEpiC	pulmonary alveolar:	n/a
10	chr5:74349644-74349694	AG09309	skin:	n/a
11	chr5:74350815-74350865	HAEpiC	amniotic membrane:	n/a
12	chr5:74350815-74350865	AG04449	skin:	fetal
13	chr5:74347539-74347589	AG04449	skin:	fetal
14	chr5:74346730-74346780	K562	blood:	n/a
15	chr5:74347539-74347589	HEEpiC	esophagus:	n/a
16	chr5:74349993-74350043	HIPEpiC	eye:	n/a
17	chr5:74348373-74348423	IMR90	lung:	fetal
18	chr5:74350214-74350264	MCF-7	breast:	n/a
19	chr5:74350815-74350865	U87	brain:	n/a
20	chr5:74349804-74349854	HepG2	liver:	n/a
21	chr5:74350815-74350865	Caco-2	colon:	n/a
22	chr5:74350752-74350802	HCF	heart:	n/a
23	chr5:74350752-74350802	GM06990	blood:	n/a
24	chr5:74346730-74346780	HepG2	liver:	n/a
25	chr5:74346730-74346780	MCF10A-Er-Src	breast:	n/a
26	chr5:74346730-74346780	NHBE	bronchial:	n/a
27	chr5:74349804-74349854	PANC-1	pancreas:	n/a
28	chr5:74349644-74349694	HRPEpiC	eye:	n/a
29	chr5:74349993-74350043	SK-N-SH	brain:	n/a
30	chr5:74349993-74350043	RPTEC	kidney:	n/a
31	chr5:74348903-74348953	GM06990	blood:	n/a
32	chr5:74346730-74346780	AG09319	gingival:	n/a
33	chr5:74350132-74350182	GM12891	blood:	n/a
34	chr5:74347539-74347589	HCT-116	colon:	n/a
35	chr5:74349804-74349854	AG04450	lung:	fetal
36	chr5:74347539-74347589	Hepatocyte	liver:	n/a
37	chr5:74350132-74350182	HMEC	breast:	n/a
38	chr5:74347539-74347589	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:74349993-74350043	NHBE	bronchial:	n/a
40	chr5:74347539-74347589	GM06990	blood:	n/a
41	chr5:74348187-74348237	HEK293	kidney:	embryo
42	chr5:74348373-74348423	HCPEpiC	choroid plexus:	n/a
43	chr5:74350815-74350865	HUVEC	blood vessel:	n/a
44	chr5:74348187-74348237	HepG2	liver:	n/a
45	chr5:74349644-74349694	HRE	kidney:	n/a
46	chr5:74349993-74350043	HRPEpiC	eye:	n/a
47	chr5:74349804-74349854	ovcar-3	ovarian:	n/a
48	chr5:74349644-74349694	NHBE	bronchial:	n/a
49	chr5:74346730-74346780	HIPEpiC	eye:	n/a
50	chr5:74350214-74350264	BE2_C	brain:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74349473..74351177-chr5:74531614..74533984,2	MCF-7	breast:
2	chr5:74341045..74343910-chr5:74344011..74347485,4	MCF-7	breast:
3	chr5:74338841..74341157-chr5:74343981..74347541,4	MCF-7	breast:
4	chr5:74343721..74346711-chr5:74348510..74350046,2	MCF-7	breast:
5	chr5:74346800..74348616-chr5:74350730..74353345,2	MCF-7	breast:
6	chr5:74349068..74351249-chr5:74356524..74358401,2	MCF-7	breast:
7	chr5:74343645..74345260-chr5:74345382..74347449,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD31-1	chr5:74347993-74348052	XLOC_004890
2	lnc-ANKRD31-1	chr5:74349340-74349594	NONHSAT102195
3	lnc-ANKRD31-1	chr5:74348254-74348668	ENSG00000250889
4	lnc-ANKRD31-1	chr5:74348254-74348668	XLOC_004890
5	lnc-ANKRD31-1	chr5:74347994-74348052	ENSG00000250889

No data

Variant related genes	Relation type
ENSG00000250889	TF binding region
ENSG00000250889	CpG island
ENSG00000145700	chromatin interactions
ENSG00000250889	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557791175	chr5:74346694-74346695	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144068131	chr5:74346702-74346703	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537062533	chr5:74346777-74346778	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs557419480	chr5:74346841-74346842	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs573842987	chr5:74346864-74346865	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs28414686	chr5:74346911-74346912	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs372793595	chr5:74347000-74347001	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs542792780	chr5:74347009-74347010	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs35173505	chr5:74347046-74347047	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs553186489	chr5:74347087-74347088	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs34687360	chr5:74347258-74347259	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs573115322	chr5:74347292-74347293	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs34550195	chr5:74347312-74347313	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs545653161	chr5:74347342-74347343	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs76228735	chr5:74347383-74347384	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs376854722	chr5:74347387-74347388	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs543088426	chr5:74347436-74347437	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs563366323	chr5:74347441-74347442	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs529024497	chr5:74347517-74347518	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs386689121	chr5:74347528-74347529	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs368697967	chr5:74347532-74347533	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs549181024	chr5:74347537-74347538	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs185565708	chr5:74347581-74347582	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs565852469	chr5:74347601-74347602	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs373426921	chr5:74347629-74347630	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs146832144	chr5:74347638-74347639	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs190317326	chr5:74347652-74347653	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs537451173	chr5:74347751-74347752	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs556964394	chr5:74347756-74347757	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs567406886	chr5:74347770-74347771	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs181577405	chr5:74347788-74347789	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs114502147	chr5:74347790-74347791	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs112536957	chr5:74347824-74347825	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs113632128	chr5:74347866-74347867	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs545282205	chr5:74347905-74347906	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs559193044	chr5:74347949-74347950	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs575892078	chr5:74347965-74347966	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs199554719	chr5:74347993-74347994	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
39	rs34184354	chr5:74347994-74347995	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
40	rs201821800	chr5:74347995-74347996	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs543381846	chr5:74347998-74347999	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
42	rs191954488	chr5:74348003-74348004	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
43	rs528910444	chr5:74348018-74348019	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
44	rs542700256	chr5:74348063-74348064	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs150891267	chr5:74348067-74348068	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs200000019	chr5:74348069-74348070	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs201480184	chr5:74348070-74348071	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs200145433	chr5:74348071-74348072	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs200848573	chr5:74348074-74348075	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs201695741	chr5:74348076-74348077	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD

Chromatin state (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:74330600-74348000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:74331600-74347000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:74337600-74348200	Weak transcription	Left Ventricle	heart
5	chr5:74338600-74348000	Weak transcription	Psoas Muscle	Psoas
6	chr5:74339000-74347000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:74340600-74347400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:74341400-74347400	Enhancers	HMEC	breast
9	chr5:74342200-74347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:74343800-74346800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:74343800-74346800	Enhancers	Fetal Brain Female	brain
12	chr5:74344000-74346800	Enhancers	Stomach Mucosa	stomach
13	chr5:74344200-74347200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:74344400-74346800	Enhancers	Rectal Smooth Muscle	rectum
15	chr5:74344400-74347200	Enhancers	Fetal Brain Male	brain
16	chr5:74344400-74348000	Weak transcription	Right Atrium	heart
17	chr5:74344600-74346600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:74344600-74346800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:74344600-74347000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:74344600-74347400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:74344800-74346800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:74344800-74347400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:74344800-74347400	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:74344800-74347800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr5:74344800-74347800	Weak transcription	Osteobl	bone
26	chr5:74344800-74348000	Weak transcription	HSMMtube	muscle
27	chr5:74344800-74348400	Enhancers	Spleen	Spleen
28	chr5:74345000-74346800	Weak transcription	Aorta	Aorta
29	chr5:74345000-74347000	Weak transcription	Brain Anterior Caudate	brain
30	chr5:74345200-74346600	Flanking Active TSS	Thymus	Thymus
31	chr5:74345200-74347200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:74345200-74347400	Enhancers	Placenta	Placenta
33	chr5:74345200-74347600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:74345400-74346800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr5:74345400-74347000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:74345400-74347000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:74345400-74347000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr5:74345400-74347200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:74345400-74347200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:74345400-74347600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr5:74345400-74347600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr5:74345400-74348000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr5:74345600-74346600	Enhancers	NHEK	skin
44	chr5:74345600-74346800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr5:74345600-74346800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:74345600-74347000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:74345600-74347000	Active TSS	Fetal Kidney	kidney
48	chr5:74345600-74347000	Enhancers	Pancreas	Pancrea
49	chr5:74345600-74347200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:74345600-74347600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links