Variant report

Variant	esv3374121
Chromosome Location	chr1:211499154-211501702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:306)
CpG islands
(count:671)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:211500800-211501351	GM12878	blood:	n/a	n/a
2	BACH1	chr1:211500159-211500804	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr1:211499661-211500069	A549	lung:	n/a	n/a
4	BCLAF1	chr1:211500694-211501367	GM12878	blood:	n/a	chr1:211501173-211501186
5	BHLHE40	chr1:211499642-211501252	GM12878	blood:	n/a	n/a
6	BHLHE40	chr1:211499756-211500102	A549	lung:	n/a	n/a
7	BHLHE40	chr1:211499770-211500243	HepG2	liver:	n/a	n/a
8	BHLHE40	chr1:211499587-211501280	K562	blood:	n/a	n/a
9	BRCA1	chr1:211499793-211500067	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr1:211499466-211500404	K562	blood:	n/a	n/a
11	CBX3	chr1:211501312-211501807	K562	blood:	n/a	n/a
12	CCNT2	chr1:211499899-211500485	K562	blood:	n/a	n/a
13	CEBPB	chr1:211500653-211500921	IMR90	lung:	n/a	n/a
14	CHD1	chr1:211500517-211500712	GM12878	blood:	n/a	n/a
15	CHD1	chr1:211499590-211500058	GM12878	blood:	n/a	n/a
16	CHD2	chr1:211500838-211500998	K562	blood:	n/a	n/a
17	CHD2	chr1:211499652-211501551	GM12878	blood:	n/a	n/a
18	CHD2	chr1:211499714-211500405	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr1:211499788-211500320	K562	blood:	n/a	n/a
20	CTCF	chr1:211500720-211500870	GM12873	blood:	n/a	n/a
21	CTCF	chr1:211499720-211499870	AG10803	skin:	n/a	n/a
22	CTCF	chr1:211499940-211500090	GM12872	blood:	n/a	n/a
23	CTCF	chr1:211500960-211501110	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr1:211500680-211500830	GM12865	blood:	n/a	n/a
25	CTCF	chr1:211500700-211500850	AG10803	skin:	n/a	n/a
26	CTCF	chr1:211500760-211500910	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr1:211500560-211500710	A549	lung:	n/a	n/a
28	CTCF	chr1:211500820-211500970	BJ	skin:	n/a	n/a
29	CTCF	chr1:211500660-211500810	BJ	skin:	n/a	n/a
30	CTCF	chr1:211500060-211500210	HMEC	breast:	n/a	n/a
31	CUX1	chr1:211499686-211499919	K562	blood:	n/a	n/a
32	E2F1	chr1:211499848-211500652	Hela-S3	cervix:	n/a	n/a
33	E2F4	chr1:211500737-211500956	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F6	chr1:211499996-211500478	K562	blood:	n/a	n/a
35	E2F6	chr1:211499687-211500666	K562	blood:	n/a	n/a
36	E2F6	chr1:211499859-211500461	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F6	chr1:211499823-211500599	K562	blood:	n/a	n/a
38	EBF1	chr1:211500779-211501311	GM12878	blood:	n/a	n/a
39	EBF1	chr1:211500753-211501341	GM12878	blood:	n/a	n/a
40	EBF1	chr1:211500796-211501612	GM12878	blood:	n/a	n/a
41	EGR1	chr1:211499903-211500332	K562	blood:	n/a	chr1:211500047-211500061
42	EGR1	chr1:211499916-211500293	K562	blood:	n/a	chr1:211500047-211500061
43	EGR1	chr1:211499958-211500186	GM12878	blood:	n/a	chr1:211500047-211500061
44	ELF1	chr1:211499662-211501255	GM12878	blood:	n/a	n/a
45	ELK1	chr1:211499959-211500051	Hela-S3	cervix:	n/a	n/a
46	ELK1	chr1:211500914-211501221	GM12878	blood:	n/a	n/a
47	EP300	chr1:211500927-211501370	T-47D	breast:	n/a	n/a
48	EP300	chr1:211499810-211500089	K562	blood:	n/a	n/a
49	EP300	chr1:211501056-211501246	K562	blood:	n/a	n/a
50	EP300	chr1:211499818-211500100	GM12878	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:211500296-211500346	NHBE	bronchial:	n/a
2	chr1:211500034-211500084	SKMC	muscle:	n/a
3	chr1:211500971-211501021	CMK	blood:	n/a
4	chr1:211500571-211500621	HCT-116	colon:	n/a
5	chr1:211499648-211499698	PFSK-1	brain:	n/a
6	chr1:211500034-211500084	BJ	skin:	n/a
7	chr1:211500571-211500621	GM12878	blood:	n/a
8	chr1:211499945-211499995	BJ	skin:	n/a
9	chr1:211500571-211500621	Hela-S3	cervix:	n/a
10	chr1:211499620-211499670	NB4	blood:	n/a
11	chr1:211500971-211501021	IMR90	lung:	fetal
12	chr1:211501629-211501679	HRPEpiC	eye:	n/a
13	chr1:211499945-211499995	T-47D	breast:	n/a
14	chr1:211500971-211501021	NHBE	bronchial:	n/a
15	chr1:211500296-211500346	HCPEpiC	choroid plexus:	n/a
16	chr1:211500571-211500621	NHDF-neo	bronchial:	n/a
17	chr1:211500296-211500346	GM19239	blood:	n/a
18	chr1:211499638-211499688	HCF	heart:	n/a
19	chr1:211499945-211499995	HMEC	breast:	n/a
20	chr1:211499648-211499698	AG10803	skin:	n/a
21	chr1:211500348-211500398	NT2-D1	testis:	n/a
22	chr1:211500852-211500902	HRPEpiC	eye:	n/a
23	chr1:211501629-211501679	NH-A	brain:	n/a
24	chr1:211499648-211499698	HNPCEpiC	eye:	n/a
25	chr1:211500296-211500346	LNCaP	prostate:	n/a
26	chr1:211501629-211501679	Hela-S3	cervix:	n/a
27	chr1:211500296-211500346	MCF10A-Er-Src	breast:	n/a
28	chr1:211501629-211501679	AG09309	skin:	n/a
29	chr1:211499620-211499670	HRPEpiC	eye:	n/a
30	chr1:211499620-211499670	BJ	skin:	n/a
31	chr1:211500034-211500084	HCPEpiC	choroid plexus:	n/a
32	chr1:211499648-211499698	BJ	skin:	n/a
33	chr1:211500348-211500398	HRPEpiC	eye:	n/a
34	chr1:211499638-211499688	PrEC	prostate:	n/a
35	chr1:211500348-211500398	HAEpiC	amniotic membrane:	n/a
36	chr1:211499945-211499995	HUVEC	blood vessel:	n/a
37	chr1:211499620-211499670	AG10803	skin:	n/a
38	chr1:211500571-211500621	AG09309	skin:	n/a
39	chr1:211500034-211500084	BE2_C	brain:	n/a
40	chr1:211500296-211500346	SKMC	muscle:	n/a
41	chr1:211499945-211499995	AG04449	skin:	fetal
42	chr1:211499648-211499698	HAEpiC	amniotic membrane:	n/a
43	chr1:211500348-211500398	RPTEC	kidney:	n/a
44	chr1:211499945-211499995	AG09319	gingival:	n/a
45	chr1:211499638-211499688	AoSMC	blood vessel:	n/a
46	chr1:211499620-211499670	AG04450	lung:	fetal
47	chr1:211499648-211499698	K562	blood:	n/a
48	chr1:211499638-211499688	HEK293	kidney:	embryo
49	chr1:211500971-211501021	ProgFib	skin:	n/a
50	chr1:211499638-211499688	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr1:211499136..211502907-chr1:211554932..211557555,4	K562	blood:
2	chr1:211496929..211498645-chr1:211500892..211503324,2	K562	blood:
3	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
4	chr1:211500641..211502521-chr1:211509296..211511473,2	MCF-7	breast:
5	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:

No data

Variant related genes	Relation type
TRAF5	TF binding region
TRAF5	CpG island
ENSG00000153363	chromatin interactions
ENSG00000117625	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78512012	chr1:211499154-211499155	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs545256506	chr1:211499155-211499156	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs140408961	chr1:211499245-211499246	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575980060	chr1:211499271-211499272	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543419685	chr1:211499272-211499273	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189571677	chr1:211499285-211499286	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144148243	chr1:211499295-211499296	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374526344	chr1:211499410-211499411	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs146436515	chr1:211499445-211499446	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs181588402	chr1:211499448-211499449	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs533376343	chr1:211499465-211499466	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs28727918	chr1:211499466-211499467	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35931861	chr1:211499469-211499470	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs570374375	chr1:211499473-211499474	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs542758930	chr1:211499495-211499496	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs572419690	chr1:211499518-211499519	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs184692646	chr1:211499534-211499535	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs369432278	chr1:211499537-211499538	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs544747447	chr1:211499617-211499618	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs12033418	chr1:211499620-211499621	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572261853	chr1:211499647-211499648	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567225891	chr1:211499701-211499702	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs77058598	chr1:211499720-211499721	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs78376573	chr1:211499741-211499742	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs140786112	chr1:211499756-211499757	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs538460775	chr1:211499761-211499762	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs556798978	chr1:211499776-211499777	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs190358151	chr1:211499777-211499778	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs115270994	chr1:211499782-211499783	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs561776022	chr1:211499801-211499802	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs574035432	chr1:211499817-211499818	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541480799	chr1:211499831-211499832	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs565114813	chr1:211499855-211499856	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs74137647	chr1:211499877-211499878	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533527952	chr1:211499895-211499896	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs150080054	chr1:211499903-211499904	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs116239758	chr1:211499911-211499912	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs369360505	chr1:211499933-211499934	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs531258114	chr1:211499981-211499982	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs548982406	chr1:211500001-211500002	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs567217080	chr1:211500032-211500033	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs528093074	chr1:211500037-211500038	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs546630902	chr1:211500055-211500056	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs372936255	chr1:211500090-211500091	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs571265953	chr1:211500112-211500113	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs538439230	chr1:211500159-211500160	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs556786509	chr1:211500160-211500161	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs568790640	chr1:211500169-211500170	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs536176933	chr1:211500180-211500181	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554584109	chr1:211500181-211500182	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211461200-211499600	Weak transcription	Psoas Muscle	Psoas
2	chr1:211461400-211499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:211461600-211499600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:211478600-211499800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:211483600-211499600	Weak transcription	Fetal Heart	heart
6	chr1:211486400-211499400	Weak transcription	Stomach Mucosa	stomach
7	chr1:211486400-211500200	Weak transcription	Small Intestine	intestine
8	chr1:211487200-211499400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:211487200-211499600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:211487200-211499600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:211487200-211499600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:211487200-211499600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:211487200-211499600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:211487200-211499600	Weak transcription	Gastric	stomach
15	chr1:211487200-211499600	Weak transcription	Left Ventricle	heart
16	chr1:211487200-211499600	Weak transcription	Lung	lung
17	chr1:211487200-211499600	Weak transcription	Pancreas	Pancrea
18	chr1:211487200-211499800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:211487200-211499800	Weak transcription	Aorta	Aorta
20	chr1:211487200-211499800	Weak transcription	Esophagus	oesophagus
21	chr1:211487200-211499800	Weak transcription	Ovary	ovary
22	chr1:211487200-211499800	Weak transcription	Right Ventricle	heart
23	chr1:211487200-211500200	Weak transcription	Spleen	Spleen
24	chr1:211487400-211499600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:211487400-211499600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:211487400-211499600	Weak transcription	Brain Anterior Caudate	brain
27	chr1:211487400-211499600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:211487400-211499600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:211487400-211499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:211487400-211499800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:211487400-211499800	Weak transcription	HSMMtube	muscle
32	chr1:211487600-211499600	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:211487600-211499600	Weak transcription	NHLF	lung
34	chr1:211488000-211499600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:211488000-211499600	Weak transcription	Brain Substantia Nigra	brain
36	chr1:211488200-211499400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:211488200-211499600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:211488400-211499400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:211488600-211499600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:211488600-211499600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:211488600-211499600	Weak transcription	HUVEC	blood vessel
42	chr1:211489200-211499600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:211489200-211499600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:211489400-211499600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:211489400-211499600	Weak transcription	Liver	Liver
46	chr1:211489400-211499600	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:211489400-211499600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:211489600-211499600	Weak transcription	NHEK	skin
49	chr1:211490000-211499600	Weak transcription	Fetal Brain Female	brain
50	chr1:211490000-211499600	Weak transcription	Rectal Mucosa Donor 29	rectum

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