Variant report

Variant	esv3374293
Chromosome Location	chr2:113913906-113916454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:221)
CpG islands
(count:427)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:221 , 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	ARID3A	chr2:113913930-113914725	HepG2	liver:	n/a	n/a
2	BHLHE40	chr2:113914155-113914358	HepG2	liver:	n/a	n/a
3	BHLHE40	chr2:113915198-113915362	HepG2	liver:	n/a	n/a
4	CCNT2	chr2:113915118-113915322	K562	blood:	n/a	n/a
5	CEBPB	chr2:113913984-113914289	HepG2	liver:	n/a	n/a
6	CEBPD	chr2:113914585-113915235	HepG2	liver:	n/a	n/a
7	CHD2	chr2:113914011-113914143	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr2:113915174-113915253	MCF-7	breast:	n/a	n/a
9	CTCF	chr2:113915293-113915358	GM19240	blood:	n/a	n/a
10	CTCF	chr2:113915258-113915396	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:113915262-113915377	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:113915323-113915360	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:113915278-113915391	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:113915240-113915390	AG09319	gingival:	n/a	n/a
15	CTCF	chr2:113915300-113915450	Caco-2	colon:	n/a	n/a
16	CTCF	chr2:113915261-113915381	GM12892	blood:	n/a	n/a
17	CTCF	chr2:113915180-113915330	GM12864	blood:	n/a	n/a
18	CTCF	chr2:113915220-113915370	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr2:113915220-113915370	NHEK	skin:	n/a	n/a
20	CTCF	chr2:113915220-113915370	GM12866	blood:	n/a	n/a
21	CTCF	chr2:113915285-113915387	GM12891	blood:	n/a	n/a
22	CTCF	chr2:113915200-113915350	HepG2	liver:	n/a	n/a
23	CTCF	chr2:113915220-113915370	GM12873	blood:	n/a	n/a
24	CTCF	chr2:113915280-113915430	SAEC	small airway:	n/a	n/a
25	CTCF	chr2:113915324-113915376	Fibrobl	skin:	n/a	n/a
26	CTCF	chr2:113915200-113915350	HEK293	kidney:	n/a	n/a
27	CTCF	chr2:113915320-113915470	GM12873	blood:	n/a	n/a
28	CTCF	chr2:113915380-113915530	Caco-2	colon:	n/a	n/a
29	CTCF	chr2:113915380-113915530	AG09319	gingival:	n/a	n/a
30	CTCF	chr2:113915298-113915366	NHEK	skin:	n/a	n/a
31	CTCF	chr2:113915200-113915350	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr2:113914743-113914827	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:113915200-113915350	GM12867	blood:	n/a	n/a
34	CTCF	chr2:113915260-113915410	HMEC	breast:	n/a	n/a
35	CTCF	chr2:113915200-113915350	GM12865	blood:	n/a	n/a
36	CTCF	chr2:113915309-113915346	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:113915380-113915530	GM12867	blood:	n/a	n/a
38	CTCF	chr2:113915200-113915350	HPF	lung:	n/a	n/a
39	CTCF	chr2:113914726-113914838	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:113915262-113915336	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr2:113915220-113915370	GM12864	blood:	n/a	n/a
42	E2F4	chr2:113916007-113916330	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F6	chr2:113914869-113915256	K562	blood:	n/a	n/a
44	E2F6	chr2:113914878-113915480	K562	blood:	n/a	n/a
45	E2F6	chr2:113914820-113915457	K562	blood:	n/a	n/a
46	E2F6	chr2:113914692-113914857	K562	blood:	n/a	n/a
47	E2F6	chr2:113915056-113915455	H1-hESC	embryonic stem cell:	n/a	n/a
48	E2F6	chr2:113914481-113915640	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F6	chr2:113915044-113915492	A549	lung:	n/a	n/a
50	EGR1	chr2:113914756-113914924	GM12878	blood:	n/a	chr2:113914862-113914876

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113914682-113914732	HNPCEpiC	eye:	n/a
2	chr2:113914442-113914492	ECC-1	luminal epithelium:	n/a
3	chr2:113915885-113915935	NB4	blood:	n/a
4	chr2:113914442-113914492	Hela-S3	cervix:	n/a
5	chr2:113915885-113915935	HL-60	blood:	n/a
6	chr2:113915312-113915362	ProgFib	skin:	n/a
7	chr2:113915155-113915205	SK-N-SH_RA	brain:	n/a
8	chr2:113915259-113915309	HepG2	liver:	n/a
9	chr2:113915155-113915205	GM19239	blood:	n/a
10	chr2:113914844-113914894	HCM	heart:	n/a
11	chr2:113915885-113915935	SKMC	muscle:	n/a
12	chr2:113915312-113915362	SAEC	small airway:	n/a
13	chr2:113914442-113914492	SAEC	small airway:	n/a
14	chr2:113915155-113915205	HCPEpiC	choroid plexus:	n/a
15	chr2:113914682-113914732	PFSK-1	brain:	n/a
16	chr2:113914442-113914492	AG09319	gingival:	n/a
17	chr2:113915312-113915362	GM12891	blood:	n/a
18	chr2:113915885-113915935	HUVEC	blood vessel:	n/a
19	chr2:113915312-113915362	BE2_C	brain:	n/a
20	chr2:113914844-113914894	RPTEC	kidney:	n/a
21	chr2:113915885-113915935	PrEC	prostate:	n/a
22	chr2:113914442-113914492	RPTEC	kidney:	n/a
23	chr2:113915155-113915205	ECC-1	luminal epithelium:	n/a
24	chr2:113914844-113914894	HEEpiC	esophagus:	n/a
25	chr2:113914844-113914894	IMR90	lung:	fetal
26	chr2:113915259-113915309	HCM	heart:	n/a
27	chr2:113914442-113914492	NHDF-neo	bronchial:	n/a
28	chr2:113914682-113914732	HRPEpiC	eye:	n/a
29	chr2:113915155-113915205	GM12878	blood:	n/a
30	chr2:113915312-113915362	IMR90	lung:	fetal
31	chr2:113914682-113914732	CMK	blood:	n/a
32	chr2:113914442-113914492	HUVEC	blood vessel:	n/a
33	chr2:113915885-113915935	HCM	heart:	n/a
34	chr2:113915885-113915935	HEEpiC	esophagus:	n/a
35	chr2:113914682-113914732	HEEpiC	esophagus:	n/a
36	chr2:113915259-113915309	BJ	skin:	n/a
37	chr2:113914442-113914492	HCF	heart:	n/a
38	chr2:113915885-113915935	MCF10A-Er-Src	breast:	n/a
39	chr2:113915259-113915309	HEK293	kidney:	embryo
40	chr2:113914682-113914732	GM12891	blood:	n/a
41	chr2:113915155-113915205	LNCaP	prostate:	n/a
42	chr2:113915259-113915309	Hela-S3	cervix:	n/a
43	chr2:113914682-113914732	Jurkat	blood:	n/a
44	chr2:113915259-113915309	HIPEpiC	eye:	n/a
45	chr2:113915312-113915362	Hela-S3	cervix:	n/a
46	chr2:113915885-113915935	HCF	heart:	n/a
47	chr2:113915259-113915309	HCPEpiC	choroid plexus:	n/a
48	chr2:113915259-113915309	GM12891	blood:	n/a
49	chr2:113915885-113915935	SAEC	small airway:	n/a
50	chr2:113914682-113914732	H1-hESC	embryonic stem cell:	embryo

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113916336..113917249-chr2:113934015..113934941,3	MCF-7	breast:
2	chr2:113816094..113817595-chr2:113914612..113916340,2	MCF-7	breast:
3	chr2:113882796..113885709-chr2:113913605..113916421,2	MCF-7	breast:
4	chr2:113913826..113916797-chr2:113930139..113933348,3	K562	blood:
5	chr2:113916276..113917249-chr2:113934015..113934953,5	MCF-7	breast:
6	chr2:113914021..113918016-chr2:113931911..113937619,8	MCF-7	breast:
7	chr2:113913193..113914847-chr2:113997714..113999799,2	K562	blood:
8	chr2:113914770..113916591-chr2:113941477..113943871,2	MCF-7	breast:
9	chr2:113913769..113918338-chr2:113954843..113958220,11	MCF-7	breast:
10	chr2:113912322..113918193-chr2:113953978..113958305,10	MCF-7	breast:
11	chr2:113913340..113916449-chr2:113931202..113934969,5	MCF-7	breast:

No data

Variant related genes	Relation type
PSD4	TF binding region
PSD4	CpG island
ENSG00000136689	chromatin interactions
ENSG00000125618	chromatin interactions
ENSG00000136695	chromatin interactions
ENSG00000125637	chromatin interactions
ENSG00000234174	chromatin interactions
ENSG00000258395	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151295151	chr2:113913913-113913914	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs57592074	chr2:113913928-113913929	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549305021	chr2:113913931-113913932	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs140517202	chr2:113913947-113913948	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs62161291	chr2:113914043-113914044	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs530968121	chr2:113914130-113914131	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs550636522	chr2:113914219-113914220	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs6739871	chr2:113914270-113914271	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs6739883	chr2:113914312-113914313	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs567083582	chr2:113914323-113914324	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs186753826	chr2:113914406-113914407	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs191618570	chr2:113914452-113914453	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs150014007	chr2:113914587-113914588	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs556060878	chr2:113914595-113914596	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs559550777	chr2:113914610-113914611	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs145232718	chr2:113914652-113914653	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs373859398	chr2:113914670-113914671	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs537870342	chr2:113914695-113914696	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs557851216	chr2:113914697-113914698	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs371307578	chr2:113914717-113914718	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs577822698	chr2:113914749-113914750	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs377596500	chr2:113914842-113914843	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs560384683	chr2:113914873-113914874	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs573819024	chr2:113914881-113914882	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs376005828	chr2:113914894-113914895	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs562826208	chr2:113914935-113914936	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs530782119	chr2:113914955-113914956	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs550573401	chr2:113914997-113914998	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs564197931	chr2:113914999-113915000	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs533250872	chr2:113915014-113915015	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs183856446	chr2:113915029-113915030	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs534482711	chr2:113915047-113915048	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs142344188	chr2:113915120-113915121	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs116663249	chr2:113915127-113915128	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs187087577	chr2:113915177-113915178	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs549384096	chr2:113915203-113915204	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs569549944	chr2:113915218-113915219	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs537799580	chr2:113915322-113915323	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs557789708	chr2:113915383-113915384	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs571309568	chr2:113915387-113915388	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs146349203	chr2:113915410-113915411	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs553940541	chr2:113915455-113915456	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs76212537	chr2:113915531-113915532	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs371271729	chr2:113915532-113915533	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs553838870	chr2:113915551-113915552	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs542826167	chr2:113915557-113915558	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs556147678	chr2:113915578-113915579	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs138238648	chr2:113915627-113915628	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs142249756	chr2:113915651-113915652	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs564131430	chr2:113915652-113915653	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113912600-113914200	Enhancers	Stomach Mucosa	stomach
2	chr2:113913400-113914200	Enhancers	Liver	Liver
3	chr2:113913400-113914400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:113913400-113914600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:113913400-113914600	Enhancers	Pancreas	Pancrea
6	chr2:113913600-113914000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr2:113913600-113914000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr2:113913600-113914000	Weak transcription	Placenta	Placenta
9	chr2:113913600-113915000	Weak transcription	Gastric	stomach
10	chr2:113913800-113914000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:113913800-113914000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:113913800-113914000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:113913800-113914000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:113913800-113914000	Enhancers	K562	blood
15	chr2:113913800-113914200	Enhancers	Primary T cells from cord blood	blood
16	chr2:113913800-113914200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr2:113913800-113914400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:113913800-113914400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:113913800-113914400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:113913800-113914400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:113913800-113914600	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:113913800-113914800	Flanking Active TSS	HepG2	liver
23	chr2:113914000-113914200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:113914000-113914200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:113914000-113914200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr2:113914000-113914200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr2:113914000-113914200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:113914000-113914200	Bivalent Enhancer	Primary B cells from cord blood	blood
29	chr2:113914000-113914200	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:113914000-113914200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:113914000-113914200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr2:113914000-113914200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr2:113914000-113914200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:113914000-113914200	Bivalent Enhancer	Fetal Kidney	kidney
35	chr2:113914000-113914200	Enhancers	Dnd41	blood
36	chr2:113914000-113914200	Enhancers	GM12878-XiMat	blood
37	chr2:113914000-113914400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:113914000-113914400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:113914000-113914400	Enhancers	Fetal Intestine Small	intestine
40	chr2:113914000-113914400	Enhancers	Fetal Thymus	thymus
41	chr2:113914000-113914400	Enhancers	NHEK	skin
42	chr2:113914000-113914600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr2:113914000-113914600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:113914000-113914600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr2:113914000-113914600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr2:113914000-113914600	Enhancers	Fetal Intestine Large	intestine
47	chr2:113914000-113914600	Enhancers	Placenta	Placenta
48	chr2:113914000-113914800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
49	chr2:113914000-113914800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr2:113914000-113914800	Flanking Active TSS	K562	blood

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