Variant report

Variant	esv3376216
Chromosome Location	chr2:46768673-46771221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:868)
CpG islands
(count:549)
Chromatin interactive
region (count:17)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:868 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:46771023-46771512	K562	blood:	n/a	n/a
2	ARID3A	chr2:46768786-46769412	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:46768981-46769720	K562	blood:	n/a	n/a
4	ATF1	chr2:46771155-46771523	K562	blood:	n/a	n/a
5	ATF2	chr2:46768873-46769516	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr2:46771045-46771669	GM12878	blood:	n/a	n/a
7	ATF2	chr2:46771043-46771677	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr2:46768755-46769762	GM12878	blood:	n/a	n/a
9	ATF2	chr2:46771105-46771603	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr2:46768975-46769679	GM12878	blood:	n/a	n/a
11	ATF2	chr2:46770918-46771735	GM12878	blood:	n/a	n/a
12	ATF3	chr2:46769195-46769725	K562	blood:	n/a	chr2:46769469-46769479
13	ATF3	chr2:46768833-46769812	A549	lung:	n/a	chr2:46769469-46769479
14	ATF3	chr2:46768493-46769183	A549	lung:	n/a	n/a
15	BACH1	chr2:46770318-46770365	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr2:46768949-46769743	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr2:46769500-46769528	K562	blood:	n/a	n/a
18	BACH1	chr2:46770579-46771348	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr2:46769353-46769573	GM12878	blood:	n/a	n/a
20	BATF	chr2:46769300-46769651	GM12878	blood:	n/a	n/a
21	BCL3	chr2:46768935-46769678	A549	lung:	n/a	n/a
22	BCL3	chr2:46768666-46769308	A549	lung:	n/a	n/a
23	BCL3	chr2:46770813-46771524	A549	lung:	n/a	chr2:46771061-46771070
24	BCLAF1	chr2:46768926-46769693	GM12878	blood:	n/a	n/a
25	BCLAF1	chr2:46768766-46769845	GM12878	blood:	n/a	chr2:46769824-46769833
26	BHLHE40	chr2:46768753-46769601	HepG2	liver:	n/a	n/a
27	BHLHE40	chr2:46771013-46771213	K562	blood:	n/a	n/a
28	BHLHE40	chr2:46768915-46769716	K562	blood:	n/a	n/a
29	BHLHE40	chr2:46768907-46769839	GM12878	blood:	n/a	n/a
30	BHLHE40	chr2:46771010-46771414	GM12878	blood:	n/a	n/a
31	BRCA1	chr2:46768934-46769273	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr2:46771086-46771205	GM12878	blood:	n/a	n/a
33	BRCA1	chr2:46768984-46769016	HepG2	liver:	n/a	n/a
34	BRCA1	chr2:46770669-46770820	GM12878	blood:	n/a	n/a
35	CBX3	chr2:46768708-46769708	K562	blood:	n/a	n/a
36	CCNT2	chr2:46771213-46771292	K562	blood:	n/a	n/a
37	CCNT2	chr2:46769390-46769977	K562	blood:	n/a	chr2:46769817-46769826
38	CEBPB	chr2:46771177-46771616	K562	blood:	n/a	chr2:46771247-46771255
39	CEBPB	chr2:46771161-46771632	MCF-7	breast:	n/a	chr2:46771247-46771255
40	CEBPB	chr2:46771112-46771608	MCF-7	breast:	n/a	chr2:46771247-46771255
41	CEBPB	chr2:46771043-46771815	A549	lung:	n/a	chr2:46771247-46771255
42	CEBPB	chr2:46769352-46769580	HepG2	liver:	n/a	chr2:46769466-46769477
43	CEBPB	chr2:46768945-46769728	GM12878	blood:	n/a	chr2:46769466-46769477
44	CEBPB	chr2:46771180-46771644	ECC-1	luminal epithelium:	n/a	chr2:46771247-46771255
45	CEBPB	chr2:46769176-46769690	MCF-7	breast:	n/a	chr2:46769466-46769477
46	CEBPB	chr2:46769188-46769694	HepG2	liver:	n/a	chr2:46769466-46769477
47	CEBPB	chr2:46769074-46769675	A549	lung:	n/a	chr2:46769466-46769477
48	CEBPB	chr2:46769242-46769704	ECC-1	luminal epithelium:	n/a	chr2:46769466-46769477
49	CEBPB	chr2:46771211-46771619	K562	blood:	n/a	chr2:46771247-46771255
50	CEBPB	chr2:46768876-46769668	H1-hESC	embryonic stem cell:	n/a	chr2:46769466-46769477

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46768944-46768994	NB4	blood:	n/a
2	chr2:46769831-46769881	SK-N-SH	brain:	n/a
3	chr2:46769831-46769881	NHDF-neo	bronchial:	n/a
4	chr2:46770299-46770349	GM12892	blood:	n/a
5	chr2:46769831-46769881	PFSK-1	brain:	n/a
6	chr2:46769513-46769563	A549	lung:	n/a
7	chr2:46770357-46770407	ProgFib	skin:	n/a
8	chr2:46770817-46770867	T-47D	breast:	n/a
9	chr2:46770281-46770331	SKMC	muscle:	n/a
10	chr2:46768944-46768994	NH-A	brain:	n/a
11	chr2:46769311-46769361	HCF	heart:	n/a
12	chr2:46769513-46769563	U87	brain:	n/a
13	chr2:46768944-46768994	SK-N-SH	brain:	n/a
14	chr2:46769064-46769114	AG09309	skin:	n/a
15	chr2:46769513-46769563	MCF10A-Er-Src	breast:	n/a
16	chr2:46769513-46769563	AG04449	skin:	fetal
17	chr2:46769311-46769361	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:46768944-46768994	AG09319	gingival:	n/a
19	chr2:46769311-46769361	HAEpiC	amniotic membrane:	n/a
20	chr2:46769064-46769114	HCPEpiC	choroid plexus:	n/a
21	chr2:46770357-46770407	NHDF-neo	bronchial:	n/a
22	chr2:46770299-46770349	A549	lung:	n/a
23	chr2:46768944-46768994	HRCEpiC	kidney:	n/a
24	chr2:46770299-46770349	GM19239	blood:	n/a
25	chr2:46769513-46769563	Caco-2	colon:	n/a
26	chr2:46769311-46769361	AG04450	lung:	fetal
27	chr2:46770281-46770331	LNCaP	prostate:	n/a
28	chr2:46769064-46769114	BJ	skin:	n/a
29	chr2:46769513-46769563	HMEC	breast:	n/a
30	chr2:46769311-46769361	GM12892	blood:	n/a
31	chr2:46770281-46770331	MCF10A-Er-Src	breast:	n/a
32	chr2:46769064-46769114	U87	brain:	n/a
33	chr2:46769513-46769563	MCF-7	breast:	n/a
34	chr2:46770817-46770867	Hela-S3	cervix:	n/a
35	chr2:46770357-46770407	GM19239	blood:	n/a
36	chr2:46769311-46769361	HUVEC	blood vessel:	n/a
37	chr2:46769311-46769361	AoSMC	blood vessel:	n/a
38	chr2:46770281-46770331	PrEC	prostate:	n/a
39	chr2:46770281-46770331	Jurkat	blood:	n/a
40	chr2:46770357-46770407	PrEC	prostate:	n/a
41	chr2:46770357-46770407	HUVEC	blood vessel:	n/a
42	chr2:46770281-46770331	HNPCEpiC	eye:	n/a
43	chr2:46768944-46768994	ovcar-3	ovarian:	n/a
44	chr2:46769831-46769881	GM06990	blood:	n/a
45	chr2:46770817-46770867	AG04449	skin:	fetal
46	chr2:46770357-46770407	BJ	skin:	n/a
47	chr2:46770299-46770349	MCF10A-Er-Src	breast:	n/a
48	chr2:46770299-46770349	PFSK-1	brain:	n/a
49	chr2:46769311-46769361	ProgFib	skin:	n/a
50	chr2:46770817-46770867	AG09309	skin:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46769235..46772209-chr2:46814826..46816628,2	K562	blood:
2	chr2:46768715..46770395-chr2:47165746..47168568,2	MCF-7	breast:
3	chr10:46090060..46090810-chr2:46769073..46769643,2	HCT-116	colon:
4	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
5	chr2:46726104..46727862-chr2:46768328..46770840,3	MCF-7	breast:
6	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:
7	chr2:46661070..46664987-chr2:46768132..46770822,3	K562	blood:
8	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:
9	chr2:46767796..46769414-chr2:46769669..46772927,3	MCF-7	breast:
10	chr2:46726438..46729524-chr2:46768838..46771074,3	K562	blood:
11	chr2:46768702..46771490-chr2:47403057..47405507,2	MCF-7	breast:
12	chr2:46704470..46707025-chr2:46769256..46770963,2	MCF-7	breast:
13	chr2:46770485..46772962-chr2:46842113..46844264,3	MCF-7	breast:
14	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:
15	chr2:46724349..46729821-chr2:46769212..46772070,6	MCF-7	breast:
16	chr2:46767796..46769414-chr2:46769669..46772927,3	MCF-7	breast:
17	chr2:46770414..46772957-chr2:46801807..46804486,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1E2-5	chr2:46768529-46768728	NONHSAT070510
2	lnc-ATP6V1E2-5	chr2:46768815-46769317	NONHSAT070501
3	lnc-ATP6V1E2-5	chr2:46768529-46769141	NONHSAT070508
4	lnc-ATP6V1E2-5	chr2:46768529-46768722	NONHSAT070506
5	lnc-ATP6V1E2-5	chr2:46768530-46768722	NONHSAT070507

No data

Variant related genes	Relation type
ATP6V1E2	TF binding region
RHOQ	TF binding region
ATP6V1E2	CpG island
RHOQ	CpG island
ENSG00000151665	chromatin interactions
ENSG00000165406	chromatin interactions
ENSG00000119729	chromatin interactions
ENSG00000253515	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000250565	chromatin interactions
ENSG00000187600	chromatin interactions
ENSG00000119878	chromatin interactions
ENSG00000068724	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137956247	chr2:46768803-46768804	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
2	rs149445795	chr2:46768816-46768817	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
3	rs189173038	chr2:46768831-46768832	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
4	rs181541445	chr2:46768836-46768837	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
5	rs548351895	chr2:46768845-46768846	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
6	rs542390532	chr2:46768846-46768847	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
7	rs561887574	chr2:46768894-46768895	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
8	rs185848156	chr2:46768900-46768901	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
9	rs189571451	chr2:46768956-46768957	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
10	rs570834624	chr2:46768982-46768983	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
11	rs539419241	chr2:46769012-46769013	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
12	rs550074458	chr2:46769015-46769016	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
13	rs569945826	chr2:46769017-46769018	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
14	rs535684172	chr2:46769020-46769021	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
15	rs113446766	chr2:46769049-46769050	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
16	rs62134737	chr2:46769095-46769096	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534716459	chr2:46769108-46769109	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
18	rs557527451	chr2:46769112-46769113	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs569221520	chr2:46769131-46769132	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
20	rs3754553	chr2:46769135-46769136	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs3754552	chr2:46769202-46769203	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs563224424	chr2:46769207-46769208	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
23	rs540243532	chr2:46769220-46769221	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs375716842	chr2:46769261-46769262	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs369960958	chr2:46769271-46769272	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
26	rs542065838	chr2:46769272-46769273	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
27	rs374745935	chr2:46769298-46769299	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
28	rs373813165	chr2:46769323-46769324	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs35349172	chr2:46769329-46769330	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs62134738	chr2:46769332-46769333	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs550529242	chr2:46769335-46769336	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs578224711	chr2:46769336-46769337	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs34450819	chr2:46769353-46769354	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs79120956	chr2:46769445-46769446	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs180924431	chr2:46769462-46769463	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs534285260	chr2:46769561-46769562	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs547888349	chr2:46769575-46769576	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs368876891	chr2:46769580-46769581	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs564398919	chr2:46769590-46769591	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs111761908	chr2:46769592-46769593	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs533392988	chr2:46769653-46769654	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs376814749	chr2:46769665-46769666	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs549893353	chr2:46769771-46769772	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs570004420	chr2:46769848-46769849	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs185801067	chr2:46769946-46769947	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs375721879	chr2:46770155-46770156	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs370119449	chr2:46770197-46770198	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs148505771	chr2:46770221-46770222	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs375230421	chr2:46770246-46770247	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs200633806	chr2:46770248-46770249	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46761200-46768800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:46765200-46768800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:46765200-46768800	Enhancers	NHDF-Ad	bronchial
4	chr2:46766400-46768800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:46766400-46768800	Enhancers	Fetal Thymus	thymus
6	chr2:46766400-46768800	Enhancers	Left Ventricle	heart
7	chr2:46767000-46768800	Enhancers	NHLF	lung
8	chr2:46767200-46768800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:46767200-46769200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:46767400-46768800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:46767600-46768800	Enhancers	HSMMtube	muscle
12	chr2:46767800-46768800	Enhancers	Placenta	Placenta
13	chr2:46767800-46768800	Enhancers	Psoas Muscle	Psoas
14	chr2:46767800-46768800	Enhancers	Stomach Mucosa	stomach
15	chr2:46767800-46769200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:46767800-46769400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr2:46768000-46768800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:46768000-46769000	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr2:46768000-46769000	Flanking Active TSS	GM12878-XiMat	blood
20	chr2:46768000-46769200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:46768000-46769200	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr2:46768000-46769200	Flanking Active TSS	A549	lung
23	chr2:46768000-46769400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr2:46768200-46768800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:46768200-46768800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:46768200-46768800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:46768200-46768800	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr2:46768200-46768800	Enhancers	Esophagus	oesophagus
29	chr2:46768200-46768800	Enhancers	Gastric	stomach
30	chr2:46768200-46768800	Enhancers	Lung	lung
31	chr2:46768200-46768800	Enhancers	Right Ventricle	heart
32	chr2:46768200-46768800	Enhancers	Thymus	Thymus
33	chr2:46768200-46769000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:46768200-46769000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:46768200-46769000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:46768200-46769000	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr2:46768200-46769000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:46768200-46769000	Enhancers	Spleen	Spleen
39	chr2:46768200-46769000	Flanking Active TSS	Hela-S3	cervix
40	chr2:46768200-46769200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr2:46768200-46769200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr2:46768200-46769200	Flanking Active TSS	Dnd41	blood
43	chr2:46768200-46769400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:46768200-46769400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr2:46768200-46769600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:46768200-46769600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr2:46768400-46768800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr2:46768400-46768800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:46768400-46768800	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr2:46768400-46768800	Enhancers	Right Atrium	heart

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