Variant report

Variant	esv3412425
Chromosome Location	chr2:99551545-99553993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:733)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:99553086-99554164	H1-hESC	embryonic stem cell:	n/a	chr2:99554105-99554119
2	BRCA1	chr2:99553623-99553785	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr2:99553780-99553835	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr2:99553204-99553214	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:99552880-99553030	HEK293	kidney:	n/a	n/a
6	CTCF	chr2:99553020-99553170	HCT-116	colon:	n/a	n/a
7	CTCF	chr2:99552880-99553030	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr2:99552890-99553030	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr2:99553100-99553250	MCF-7	breast:	n/a	n/a
10	CTCF	chr2:99552960-99553110	GM12875	blood:	n/a	n/a
11	CTCF	chr2:99552940-99553090	SAEC	small airway:	n/a	n/a
12	CTCF	chr2:99552860-99553010	GM12867	blood:	n/a	n/a
13	CTCF	chr2:99552854-99553067	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:99552980-99553130	HRE	kidney:	n/a	n/a
15	CTCF	chr2:99552903-99553035	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr2:99552763-99553145	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:99552940-99553090	AG04449	skin:	n/a	n/a
18	CTCF	chr2:99552840-99552990	RPTEC	kidney:	n/a	n/a
19	CTCF	chr2:99552861-99553068	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr2:99552900-99553050	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr2:99552846-99553040	LNCaP	prostate:	n/a	n/a
22	CTCF	chr2:99552800-99552950	GM12865	blood:	n/a	n/a
23	CTCF	chr2:99552880-99553030	A549	lung:	n/a	n/a
24	CTCF	chr2:99552880-99553030	AG09319	gingival:	n/a	n/a
25	CTCF	chr2:99552880-99553030	NHEK	skin:	n/a	n/a
26	CTCF	chr2:99552907-99552997	Fibrobl	skin:	n/a	n/a
27	CTCF	chr2:99552880-99553030	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr2:99552880-99553030	GM12871	blood:	n/a	n/a
29	CTCF	chr2:99552960-99553110	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr2:99552877-99553051	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:99552860-99553010	NB4	blood:	n/a	n/a
32	CTCF	chr2:99552840-99552990	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr2:99552880-99553030	HAc	cerebellar:	n/a	n/a
34	CTCF	chr2:99552860-99553062	GM12891	blood:	n/a	n/a
35	CTCF	chr2:99552900-99553050	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr2:99552900-99553050	HCT-116	colon:	n/a	n/a
37	CTCF	chr2:99552931-99553028	GM19240	blood:	n/a	n/a
38	CTCF	chr2:99552882-99553041	Gliobla	brain:	n/a	n/a
39	CTCF	chr2:99552830-99553060	A549	lung:	n/a	n/a
40	CTCF	chr2:99552885-99553033	GM19238	blood:	n/a	n/a
41	CTCF	chr2:99552920-99553070	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr2:99552860-99553010	GM12869	blood:	n/a	n/a
43	CTCF	chr2:99552880-99553030	GM12873	blood:	n/a	n/a
44	CTCF	chr2:99552763-99553136	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr2:99552920-99553070	GM12869	blood:	n/a	n/a
46	CTCF	chr2:99552940-99553090	GM12873	blood:	n/a	n/a
47	CTCF	chr2:99552860-99553010	HEK293	kidney:	n/a	n/a
48	CTCF	chr2:99552900-99553050	HMEC	breast:	n/a	n/a
49	CTCF	chr2:99552870-99553048	GM12892	blood:	n/a	n/a
50	CTCF	chr2:99552860-99553010	GM12866	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:99552737-99552787	AG04450	lung:	fetal
2	chr2:99552737-99552787	AG04450	lung:	fetal
3	chr2:99553055-99553105	RPTEC	kidney:	n/a
4	chr2:99553642-99553692	MCF10A-Er-Src	breast:	n/a
5	chr2:99553406-99553456	NH-A	brain:	n/a
6	chr2:99553642-99553692	PrEC	prostate:	n/a
7	chr2:99553830-99553880	PFSK-1	brain:	n/a
8	chr2:99553406-99553456	Hela-S3	cervix:	n/a
9	chr2:99552633-99552683	HEK293	kidney:	embryo
10	chr2:99553055-99553105	Hepatocyte	liver:	n/a
11	chr2:99552633-99552683	ovcar-3	ovarian:	n/a
12	chr2:99552827-99552877	GM12892	blood:	n/a
13	chr2:99552261-99552311	AoSMC	blood vessel:	n/a
14	chr2:99553141-99553191	SKMC	muscle:	n/a
15	chr2:99553055-99553105	HAEpiC	amniotic membrane:	n/a
16	chr2:99553442-99553492	HCPEpiC	choroid plexus:	n/a
17	chr2:99552261-99552311	SAEC	small airway:	n/a
18	chr2:99552827-99552877	ECC-1	luminal epithelium:	n/a
19	chr2:99553442-99553492	ECC-1	luminal epithelium:	n/a
20	chr2:99553078-99553128	NB4	blood:	n/a
21	chr2:99552261-99552311	GM12892	blood:	n/a
22	chr2:99553078-99553128	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:99553642-99553692	Hepatocyte	liver:	n/a
24	chr2:99552827-99552877	SK-N-SH_RA	brain:	n/a
25	chr2:99553141-99553191	HCT-116	colon:	n/a
26	chr2:99552109-99552159	HRCEpiC	kidney:	n/a
27	chr2:99553642-99553692	H1-hESC	embryonic stem cell:	embryo
28	chr2:99552633-99552683	SKMC	muscle:	n/a
29	chr2:99553406-99553456	HL-60	blood:	n/a
30	chr2:99553642-99553692	HepG2	liver:	n/a
31	chr2:99553642-99553692	RPTEC	kidney:	n/a
32	chr2:99553078-99553128	HCPEpiC	choroid plexus:	n/a
33	chr2:99552109-99552159	HCPEpiC	choroid plexus:	n/a
34	chr2:99553055-99553105	AG04449	skin:	fetal
35	chr2:99552737-99552787	SAEC	small airway:	n/a
36	chr2:99553442-99553492	AoSMC	blood vessel:	n/a
37	chr2:99552737-99552787	AoSMC	blood vessel:	n/a
38	chr2:99553078-99553128	Hela-S3	cervix:	n/a
39	chr2:99553141-99553191	HepG2	liver:	n/a
40	chr2:99552737-99552787	MCF10A-Er-Src	breast:	n/a
41	chr2:99553141-99553191	SK-N-SH	brain:	n/a
42	chr2:99552109-99552159	Hela-S3	cervix:	n/a
43	chr2:99553078-99553128	HepG2	liver:	n/a
44	chr2:99552737-99552787	MCF-7	breast:	n/a
45	chr2:99553406-99553456	HCT-116	colon:	n/a
46	chr2:99552261-99552311	GM19239	blood:	n/a
47	chr2:99553055-99553105	ovcar-3	ovarian:	n/a
48	chr2:99553406-99553456	GM19239	blood:	n/a
49	chr2:99552737-99552787	HEK293	kidney:	embryo
50	chr2:99552109-99552159	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99523789..99526225-chr2:99550557..99552954,3	MCF-7	breast:

No data

Variant related genes	Relation type
KIAA1211L	TF binding region
KIAA1211L	CpG island
ENSG00000196872	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188893969	chr2:99551599-99551600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113707401	chr2:99551626-99551627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555072056	chr2:99551676-99551677	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78610551	chr2:99551726-99551727	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113270845	chr2:99551728-99551729	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541403198	chr2:99551736-99551737	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13396750	chr2:99551739-99551740	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
8	rs537874889	chr2:99551744-99551745	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200137831	chr2:99551758-99551759	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75227052	chr2:99551858-99551859	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543623864	chr2:99551966-99551967	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537490690	chr2:99552022-99552023	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549448390	chr2:99552031-99552032	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367612963	chr2:99552033-99552034	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563510997	chr2:99552055-99552056	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529347467	chr2:99552074-99552075	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549023760	chr2:99552123-99552124	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139554022	chr2:99552176-99552177	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528480886	chr2:99552358-99552359	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547405244	chr2:99552497-99552498	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570711754	chr2:99552505-99552506	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539713404	chr2:99552556-99552557	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556417975	chr2:99552612-99552613	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540348354	chr2:99552634-99552635	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569821098	chr2:99552680-99552681	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535553931	chr2:99552725-99552726	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555432499	chr2:99552746-99552747	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146628372	chr2:99552821-99552822	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541004854	chr2:99552889-99552890	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs140190654	chr2:99552899-99552900	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577938802	chr2:99552996-99552997	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs543660730	chr2:99553056-99553057	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs563547876	chr2:99553057-99553058	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs529434248	chr2:99553101-99553102	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs62156558	chr2:99553104-99553105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs559773598	chr2:99553232-99553233	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs528513347	chr2:99553249-99553250	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538697060	chr2:99553250-99553251	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs542844994	chr2:99553378-99553379	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs143760522	chr2:99553386-99553387	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs368596432	chr2:99553435-99553436	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs533268947	chr2:99553446-99553447	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs550059410	chr2:99553503-99553504	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs569907700	chr2:99553508-99553509	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs535643734	chr2:99553509-99553510	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs376739013	chr2:99553520-99553521	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs372369709	chr2:99553566-99553567	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565782152	chr2:99553586-99553587	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs60982916	chr2:99553588-99553589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs369237871	chr2:99553593-99553594	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99549400-99553800	Active TSS	Brain Anterior Caudate	brain
2	chr2:99550000-99553800	Active TSS	Brain Angular Gyrus	brain
3	chr2:99550800-99553200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr2:99551200-99553800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:99551200-99554000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:99551400-99551600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:99551400-99551600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:99551400-99551600	Enhancers	Pancreas	Pancrea
9	chr2:99551400-99551800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr2:99551400-99552000	Enhancers	Esophagus	oesophagus
11	chr2:99551400-99552000	Bivalent Enhancer	Fetal Brain Female	brain
12	chr2:99551400-99552000	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr2:99551400-99552200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr2:99551400-99552200	Flanking Active TSS	HMEC	breast
15	chr2:99551400-99553800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr2:99551600-99551800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr2:99551600-99551800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr2:99551600-99551800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:99551600-99551800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr2:99551600-99551800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr2:99551600-99551800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:99551600-99551800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
23	chr2:99551600-99551800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:99551600-99551800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
25	chr2:99551600-99551800	Enhancers	Ovary	ovary
26	chr2:99551600-99551800	Flanking Active TSS	Pancreas	Pancrea
27	chr2:99551600-99552000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr2:99551600-99552000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:99551600-99552000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr2:99551600-99552000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
31	chr2:99551600-99552000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:99551600-99552000	Bivalent Enhancer	Liver	Liver
33	chr2:99551600-99552000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr2:99551600-99552000	Bivalent Enhancer	HepG2	liver
35	chr2:99551600-99552200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:99551600-99552200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
37	chr2:99551600-99552200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
38	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
39	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
40	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
41	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr2:99551600-99552800	Bivalent/Poised TSS	Right Ventricle	heart
43	chr2:99551800-99552000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:99551800-99552000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
45	chr2:99551800-99552000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr2:99551800-99552000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:99551800-99552000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
48	chr2:99551800-99552000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:99551800-99552000	Bivalent Enhancer	Adipose Nuclei	Adipose
50	chr2:99551800-99552000	Active TSS	Brain Substantia Nigra	brain

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