Variant report

Variant	esv3406275
Chromosome Location	chr2:114340582-114360780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2052)
CpG islands
(count:860)
Chromatin interactive
region (count:4)
LncRNA
region (count:17)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2052 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:114341464-114341790	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:114341528-114341709	K562	blood:	n/a	n/a
3	ATF1	chr2:114349732-114349772	K562	blood:	n/a	n/a
4	ATF2	chr2:114341413-114341806	GM12878	blood:	n/a	n/a
5	ATF2	chr2:114341425-114341694	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr2:114359653-114359828	K562	blood:	n/a	n/a
7	ATF3	chr2:114341426-114341722	A549	lung:	n/a	n/a
8	ATF3	chr2:114341420-114341810	A549	lung:	n/a	n/a
9	ATF3	chr2:114359657-114359767	GM12878	blood:	n/a	n/a
10	ATF3	chr2:114359623-114359862	GM12878	blood:	n/a	n/a
11	ATF3	chr2:114359628-114359819	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr2:114342450-114342472	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr2:114356527-114356738	GM12878	blood:	n/a	n/a
14	BATF	chr2:114341254-114341925	GM12878	blood:	n/a	n/a
15	BATF	chr2:114354654-114354853	GM12878	blood:	n/a	n/a
16	BATF	chr2:114353823-114353988	GM12878	blood:	n/a	n/a
17	BATF	chr2:114356769-114357086	GM12878	blood:	n/a	n/a
18	BATF	chr2:114359457-114359883	GM12878	blood:	n/a	n/a
19	BATF	chr2:114342934-114343135	GM12878	blood:	n/a	n/a
20	BATF	chr2:114358733-114359308	GM12878	blood:	n/a	n/a
21	BATF	chr2:114359080-114359259	GM12878	blood:	n/a	n/a
22	BATF	chr2:114340809-114341094	GM12878	blood:	n/a	n/a
23	BATF	chr2:114342145-114342363	GM12878	blood:	n/a	n/a
24	BATF	chr2:114356797-114357011	GM12878	blood:	n/a	n/a
25	BATF	chr2:114357543-114357728	GM12878	blood:	n/a	n/a
26	BATF	chr2:114341927-114342368	GM12878	blood:	n/a	n/a
27	BATF	chr2:114340791-114341141	GM12878	blood:	n/a	n/a
28	BATF	chr2:114343300-114343492	GM12878	blood:	n/a	chr2:114343416-114343427
29	BATF	chr2:114359584-114359759	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:114343200-114343508	GM12878	blood:	n/a	n/a
31	BCL11A	chr2:114353154-114353342	GM12878	blood:	n/a	n/a
32	BCL11A	chr2:114348919-114349101	GM12878	blood:	n/a	n/a
33	BCL11A	chr2:114356590-114356954	GM12878	blood:	n/a	n/a
34	BCL11A	chr2:114357565-114358027	GM12878	blood:	n/a	n/a
35	BCL11A	chr2:114340779-114341050	GM12878	blood:	n/a	n/a
36	BCL11A	chr2:114346548-114346720	GM12878	blood:	n/a	n/a
37	BCL11A	chr2:114354284-114354491	GM12878	blood:	n/a	n/a
38	BCL11A	chr2:114355249-114355598	GM12878	blood:	n/a	n/a
39	BCL11A	chr2:114341277-114342392	GM12878	blood:	n/a	chr2:114341890-114341903 chr2:114341855-114341868 chr2:114341592-114341601 chr2:114341601-114341614 chr2:114341854-114341867
40	BCL11A	chr2:114358969-114359373	GM12878	blood:	n/a	n/a
41	BCL11A	chr2:114359458-114359824	GM12878	blood:	n/a	n/a
42	BCL11A	chr2:114345523-114345720	GM12878	blood:	n/a	n/a
43	BCL11A	chr2:114341161-114342683	GM12878	blood:	n/a	chr2:114341890-114341903 chr2:114341855-114341868 chr2:114341592-114341601 chr2:114341601-114341614 chr2:114341854-114341867
44	BCL11A	chr2:114349921-114350176	GM12878	blood:	n/a	n/a
45	BCL11A	chr2:114344560-114344801	GM12878	blood:	n/a	n/a
46	BCL11A	chr2:114354623-114354871	GM12878	blood:	n/a	n/a
47	BCL11A	chr2:114345225-114345448	GM12878	blood:	n/a	n/a
48	BCL11A	chr2:114359452-114359825	GM12878	blood:	n/a	n/a
49	BCL11A	chr2:114347973-114348302	GM12878	blood:	n/a	n/a
50	BCL11A	chr2:114358093-114358502	GM12878	blood:	n/a	n/a

(count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114341680-114341730	AG10803	skin:	n/a
2	chr2:114359251-114359301	HRPEpiC	eye:	n/a
3	chr2:114360096-114360146	PANC-1	pancreas:	n/a
4	chr2:114359736-114359786	HMEC	breast:	n/a
5	chr2:114359736-114359786	HRCEpiC	kidney:	n/a
6	chr2:114341680-114341730	NB4	blood:	n/a
7	chr2:114341680-114341730	AG10803	skin:	n/a
8	chr2:114359251-114359301	HRPEpiC	eye:	n/a
9	chr2:114360096-114360146	PANC-1	pancreas:	n/a
10	chr2:114359736-114359786	HMEC	breast:	n/a
11	chr2:114359736-114359786	HRCEpiC	kidney:	n/a
12	chr2:114341680-114341730	NB4	blood:	n/a
13	chr2:114359873-114359923	AG10803	skin:	n/a
14	chr2:114345644-114345694	IMR90	lung:	fetal
15	chr2:114360096-114360146	PFSK-1	brain:	n/a
16	chr2:114359736-114359786	HCT-116	colon:	n/a
17	chr2:114342621-114342671	SK-N-SH	brain:	n/a
18	chr2:114359762-114359812	ovcar-3	ovarian:	n/a
19	chr2:114341680-114341730	A549	lung:	n/a
20	chr2:114346218-114346268	LNCaP	prostate:	n/a
21	chr2:114341631-114341681	AG09319	gingival:	n/a
22	chr2:114360096-114360146	HRPEpiC	eye:	n/a
23	chr2:114346218-114346268	Hela-S3	cervix:	n/a
24	chr2:114341631-114341681	AG09309	skin:	n/a
25	chr2:114359762-114359812	HCF	heart:	n/a
26	chr2:114341111-114341161	AG09309	skin:	n/a
27	chr2:114345644-114345694	SAEC	small airway:	n/a
28	chr2:114341111-114341161	AG04449	skin:	fetal
29	chr2:114341111-114341161	IMR90	lung:	fetal
30	chr2:114359251-114359301	AoSMC	blood vessel:	n/a
31	chr2:114341111-114341161	SK-N-SH_RA	brain:	n/a
32	chr2:114341111-114341161	HCPEpiC	choroid plexus:	n/a
33	chr2:114359188-114359238	AoSMC	blood vessel:	n/a
34	chr2:114359873-114359923	SK-N-SH	brain:	n/a
35	chr2:114359762-114359812	HEEpiC	esophagus:	n/a
36	chr2:114342108-114342158	PANC-1	pancreas:	n/a
37	chr2:114360096-114360146	ECC-1	luminal epithelium:	n/a
38	chr2:114359762-114359812	NT2-D1	testis:	n/a
39	chr2:114345644-114345694	HCF	heart:	n/a
40	chr2:114342621-114342671	IMR90	lung:	fetal
41	chr2:114359251-114359301	HCPEpiC	choroid plexus:	n/a
42	chr2:114342621-114342671	ProgFib	skin:	n/a
43	chr2:114359873-114359923	HNPCEpiC	eye:	n/a
44	chr2:114360096-114360146	NHDF-neo	bronchial:	n/a
45	chr2:114359762-114359812	AoSMC	blood vessel:	n/a
46	chr2:114359188-114359238	SK-N-SH	brain:	n/a
47	chr2:114342621-114342671	SK-N-MC	brain:	n/a
48	chr2:114346218-114346268	GM06990	blood:	n/a
49	chr2:114357261-114357311	IMR90	lung:	fetal
50	chr2:114341111-114341161	SK-N-SH	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114344560..114345063-chr2:114361338..114362244,2	MCF-7	breast:
2	chr2:114359257..114359811-chr2:114457510..114458087,2	MCF-7	breast:
3	chr12:77529..78029-chr2:114344487..114344997,2	MCF-7	breast:
4	chr12:77501..78029-chr2:114344484..114344991,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35F5-16	chr2:114356605-114357791	NONHSAT073810
2	lnc-SLC35F5-17	chr2:114349194-114349311	l_1931_chr2:114347801-114356084_testes
3	lnc-SLC35F5-17	chr2:114347802-114348156	l_1931_chr2:114347801-114356084_testes
4	lnc-SLC35F5-16	chr2:114358789-114359153	NONHSAT073811
5	lnc-SLC35F5-16	chr2:114358319-114358403	NONHSAT073812
6	lnc-SLC35F5-16	chr2:114358789-114359006	NONHSAT073809
7	lnc-SLC35F5-16	chr2:114357939-114358040	NONHSAT073812
8	lnc-SLC35F5-16	chr2:114358319-114358403	NONHSAT073813
9	lnc-SLC35F5-16	chr2:114356613-114357795	NONHSAT073813
10	lnc-SLC35F5-16	chr2:114358789-114358838	NONHSAT073813
11	lnc-SLC35F5-17	chr2:114355758-114356084	l_1931_chr2:114347801-114356084_testes
12	lnc-SLC35F5-16	chr2:114356613-114357773	NONHSAT073812
13	lnc-SLC35F5-16	chr2:114356605-114358421	NONHSAT073809
14	lnc-SLC35F5-16	chr2:114358789-114359153	NONHSAT073810
15	lnc-SLC35F5-16	chr2:114358789-114358838	NONHSAT073812
16	lnc-SLC35F5-16	chr2:114356605-114358403	NONHSAT073811
17	lnc-SLC35F5-16	chr2:114358295-114358403	NONHSAT073810

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1302	chr2:114340581-114340601	MIMAT0005890_4

No data

Variant related genes	Relation type
DDX11L2	TF binding region
WASH2P	TF binding region
MIR1302-3	TF binding region
DDX11L2	CpG island
WASH2P	CpG island
MIR1302-3	CpG island

Extended variants
information (count: 996 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:996 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2441621	chr2:114340615-114340616	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs7589328	chr2:114340628-114340629	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs74625964	chr2:114340631-114340632	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs6542147	chr2:114340663-114340664	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs6542148	chr2:114340677-114340678	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs2258969	chr2:114340706-114340707	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs370472644	chr2:114340707-114340708	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs555750020	chr2:114340745-114340746	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs7349443	chr2:114340786-114340787	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs142620574	chr2:114340787-114340788	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs563993698	chr2:114340809-114340810	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs538367528	chr2:114340814-114340815	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs434519	chr2:114340854-114340855	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs558295413	chr2:114340872-114340873	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs28743045	chr2:114340892-114340893	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs572182913	chr2:114340963-114340964	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs200629995	chr2:114340974-114340975	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs28451476	chr2:114341002-114341003	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs2475479	chr2:114341011-114341012	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs182663343	chr2:114341051-114341052	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs2418687	chr2:114341074-114341075	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs2418689	chr2:114341100-114341101	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs541297954	chr2:114341115-114341116	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
24	rs28757822	chr2:114341129-114341130	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
25	rs11491268	chr2:114341145-114341146	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
26	rs74742233	chr2:114341158-114341159	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
27	rs2418690	chr2:114341172-114341173	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs2418691	chr2:114341190-114341191	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs2418692	chr2:114341216-114341217	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs554614802	chr2:114341217-114341218	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs187314072	chr2:114341219-114341220	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs542618036	chr2:114341238-114341239	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs2418693	chr2:114341247-114341248	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs373189018	chr2:114341248-114341249	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs112263796	chr2:114341280-114341281	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs371207590	chr2:114341289-114341290	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs531814353	chr2:114341296-114341297	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs545552017	chr2:114341306-114341307	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs12328158	chr2:114341377-114341378	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs28580044	chr2:114341380-114341381	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs111952003	chr2:114341382-114341383	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs2418694	chr2:114341406-114341407	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs8179853	chr2:114341451-114341452	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs377604653	chr2:114341468-114341469	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs7340206	chr2:114341583-114341584	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs565455479	chr2:114341590-114341591	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs559281588	chr2:114341596-114341597	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs527923772	chr2:114341601-114341602	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs2418699	chr2:114341603-114341604	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs7340207	chr2:114341606-114341607	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Myelofibrosis	22110671	CNVD

Chromatin state (count:906 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114329600-114341000	Weak transcription	NHDF-Ad	bronchial
2	chr2:114340000-114340600	Bivalent Enhancer	HepG2	liver
3	chr2:114340000-114340800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr2:114340000-114341000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr2:114340000-114341000	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:114340000-114341000	Enhancers	Placenta	Placenta
7	chr2:114340000-114341000	Enhancers	HSMMtube	muscle
8	chr2:114340000-114341200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:114340200-114340600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:114340200-114340600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr2:114340200-114340600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:114340200-114340600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:114340200-114340600	Flanking Active TSS	Fetal Kidney	kidney
14	chr2:114340200-114340800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:114340200-114340800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:114340200-114340800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:114340200-114340800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:114340200-114340800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:114340200-114340800	Enhancers	Fetal Lung	lung
20	chr2:114340200-114340800	Enhancers	HMEC	breast
21	chr2:114340200-114340800	Flanking Active TSS	K562	blood
22	chr2:114340200-114341000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:114340200-114341000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:114340200-114341000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:114340200-114341000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:114340200-114341000	Enhancers	Fetal Muscle Leg	muscle
27	chr2:114340200-114341200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:114340200-114341200	Enhancers	Spleen	Spleen
29	chr2:114340200-114341600	Flanking Active TSS	Dnd41	blood
30	chr2:114340200-114342600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:114340200-114342800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr2:114340400-114340600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:114340400-114340600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:114340400-114340600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr2:114340400-114340600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr2:114340400-114340600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:114340400-114340600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:114340400-114340600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr2:114340400-114340600	Flanking Active TSS	Thymus	Thymus
40	chr2:114340400-114340600	Flanking Active TSS	NHEK	skin
41	chr2:114340400-114340600	Flanking Active TSS	NHLF	lung
42	chr2:114340400-114340800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:114340400-114340800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:114340400-114340800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:114340400-114340800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:114340400-114340800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:114340400-114340800	Enhancers	Brain Anterior Caudate	brain
48	chr2:114340400-114340800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr2:114340400-114341000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:114340400-114341000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links