Variant report

Variant	nsv527751
Chromosome Location	chr8:125338216-125431030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1076)
CpG islands
(count:977)
Chromatin interactive
region (count:83)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:125384933-125385337	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:125346414-125346438	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:125363861-125364339	K562	blood:	n/a	n/a
4	ATF1	chr8:125409759-125409837	K562	blood:	n/a	n/a
5	ATF1	chr8:125357299-125357470	K562	blood:	n/a	n/a
6	ATF1	chr8:125389317-125389342	K562	blood:	n/a	n/a
7	ATF1	chr8:125364101-125364412	K562	blood:	n/a	n/a
8	ATF2	chr8:125376951-125377459	GM12878	blood:	n/a	n/a
9	ATF3	chr8:125384909-125385516	A549	lung:	n/a	chr8:125384979-125384988 chr8:125384948-125384957
10	ATF3	chr8:125384617-125385011	K562	blood:	n/a	chr8:125384979-125384988 chr8:125384948-125384957
11	ATF3	chr8:125384686-125384898	K562	blood:	n/a	n/a
12	BACH1	chr8:125385046-125385570	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr8:125377141-125377341	GM12878	blood:	n/a	n/a
14	BATF	chr8:125376519-125376765	GM12878	blood:	n/a	n/a
15	BCLAF1	chr8:125385003-125385556	GM12878	blood:	n/a	n/a
16	BHLHE40	chr8:125377067-125377385	GM12878	blood:	n/a	n/a
17	BHLHE40	chr8:125384768-125385268	GM12878	blood:	n/a	chr8:125384900-125384916 chr8:125384902-125384918 chr8:125384899-125384915
18	BHLHE40	chr8:125384659-125385317	HepG2	liver:	n/a	chr8:125384900-125384916 chr8:125384902-125384918 chr8:125384899-125384915
19	BHLHE40	chr8:125383780-125383798	K562	blood:	n/a	n/a
20	BHLHE40	chr8:125384791-125385468	K562	blood:	n/a	chr8:125384900-125384916 chr8:125384902-125384918 chr8:125384899-125384915
21	BHLHE40	chr8:125383492-125383559	K562	blood:	n/a	n/a
22	BHLHE40	chr8:125384474-125384531	GM12878	blood:	n/a	n/a
23	BRCA1	chr8:125384516-125384645	HepG2	liver:	n/a	n/a
24	BRCA1	chr8:125384650-125385183	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr8:125384611-125385481	K562	blood:	n/a	n/a
26	CBX3	chr8:125399257-125399575	K562	blood:	n/a	n/a
27	CCNT2	chr8:125384167-125385698	K562	blood:	n/a	chr8:125385296-125385305 chr8:125384979-125384988
28	CEBPB	chr8:125368538-125368905	K562	blood:	n/a	chr8:125368712-125368723
29	CEBPB	chr8:125409672-125409844	A549	lung:	n/a	n/a
30	CEBPB	chr8:125368584-125368787	K562	blood:	n/a	chr8:125368712-125368723
31	CEBPB	chr8:125368408-125368996	A549	lung:	n/a	chr8:125368712-125368723
32	CEBPB	chr8:125384577-125385184	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr8:125368519-125368872	K562	blood:	n/a	chr8:125368712-125368723
34	CEBPB	chr8:125368367-125369054	MCF-7	breast:	n/a	chr8:125368712-125368723
35	CEBPB	chr8:125409719-125409883	K562	blood:	n/a	n/a
36	CEBPB	chr8:125409631-125409940	IMR90	lung:	n/a	n/a
37	CEBPB	chr8:125368540-125368901	A549	lung:	n/a	chr8:125368712-125368723
38	CEBPB	chr8:125387498-125387591	A549	lung:	n/a	n/a
39	CEBPB	chr8:125368475-125368922	Hela-S3	cervix:	n/a	chr8:125368712-125368723
40	CEBPB	chr8:125368456-125368943	A549	lung:	n/a	chr8:125368712-125368723
41	CEBPB	chr8:125368604-125368866	HepG2	liver:	n/a	chr8:125368712-125368723
42	CEBPB	chr8:125368421-125369017	MCF-7	breast:	n/a	chr8:125368712-125368723
43	CEBPB	chr8:125409716-125409885	HepG2	liver:	n/a	n/a
44	CEBPB	chr8:125383139-125383814	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr8:125368528-125368918	IMR90	lung:	n/a	chr8:125368712-125368723
46	CEBPD	chr8:125381322-125381810	K562	blood:	n/a	n/a
47	CEBPD	chr8:125384651-125385242	HepG2	liver:	n/a	n/a
48	CEBPD	chr8:125384813-125385111	HepG2	liver:	n/a	n/a
49	CHD1	chr8:125384881-125385181	GM12878	blood:	n/a	chr8:125384980-125384990 chr8:125384949-125384959 chr8:125385171-125385181
50	CHD1	chr8:125384366-125384531	GM12878	blood:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125384179-125384229	GM12878	blood:	n/a
2	chr8:125384179-125384229	GM12878	blood:	n/a
3	chr8:125384179-125384229	PrEC	prostate:	n/a
4	chr8:125383532-125383582	SK-N-SH_RA	brain:	n/a
5	chr8:125385036-125385086	H1-hESC	embryonic stem cell:	embryo
6	chr8:125367228-125367278	HCM	heart:	n/a
7	chr8:125384121-125384171	Hela-S3	cervix:	n/a
8	chr8:125385130-125385180	CMK	blood:	n/a
9	chr8:125385504-125385554	AG04449	skin:	fetal
10	chr8:125380812-125380862	AG04449	skin:	fetal
11	chr8:125385252-125385302	HCM	heart:	n/a
12	chr8:125385252-125385302	CMK	blood:	n/a
13	chr8:125388806-125388856	BE2_C	brain:	n/a
14	chr8:125385436-125385486	HEK293	kidney:	embryo
15	chr8:125384789-125384839	GM12892	blood:	n/a
16	chr8:125383532-125383582	T-47D	breast:	n/a
17	chr8:125384848-125384898	HCF	heart:	n/a
18	chr8:125385504-125385554	AoSMC	blood vessel:	n/a
19	chr8:125367228-125367278	RPTEC	kidney:	n/a
20	chr8:125383826-125383876	HRE	kidney:	n/a
21	chr8:125384121-125384171	SK-N-MC	brain:	n/a
22	chr8:125385259-125385309	ECC-1	luminal epithelium:	n/a
23	chr8:125385259-125385309	HCT-116	colon:	n/a
24	chr8:125384848-125384898	Hela-S3	cervix:	n/a
25	chr8:125388806-125388856	AG04450	lung:	fetal
26	chr8:125385036-125385086	MCF-7	breast:	n/a
27	chr8:125384121-125384171	HIPEpiC	eye:	n/a
28	chr8:125383826-125383876	SAEC	small airway:	n/a
29	chr8:125383532-125383582	HEEpiC	esophagus:	n/a
30	chr8:125385504-125385554	ProgFib	skin:	n/a
31	chr8:125380812-125380862	GM19239	blood:	n/a
32	chr8:125385504-125385554	HepG2	liver:	n/a
33	chr8:125384121-125384171	AG04450	lung:	fetal
34	chr8:125380812-125380862	HCF	heart:	n/a
35	chr8:125385252-125385302	AG10803	skin:	n/a
36	chr8:125385436-125385486	PFSK-1	brain:	n/a
37	chr8:125388806-125388856	NT2-D1	testis:	n/a
38	chr8:125367228-125367278	IMR90	lung:	fetal
39	chr8:125385259-125385309	T-47D	breast:	n/a
40	chr8:125388806-125388856	K562	blood:	n/a
41	chr8:125384727-125384777	AG09319	gingival:	n/a
42	chr8:125383532-125383582	NT2-D1	testis:	n/a
43	chr8:125383826-125383876	AG04449	skin:	fetal
44	chr8:125367228-125367278	MCF10A-Er-Src	breast:	n/a
45	chr8:125385436-125385486	HAEpiC	amniotic membrane:	n/a
46	chr8:125384121-125384171	GM19239	blood:	n/a
47	chr8:125385436-125385486	MCF-7	breast:	n/a
48	chr8:125385259-125385309	SK-N-SH	brain:	n/a
49	chr8:125385252-125385302	Hela-S3	cervix:	n/a
50	chr8:125384789-125384839	HPAEpiC	pulmonary alveolar:	n/a

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:125353704..125355913-chr8:125356266..125359505,3	MCF-7	breast:
2	chr8:125338867..125341244-chr8:125341867..125344052,2	K562	blood:
3	chr8:125366912..125369659-chr8:125371312..125373156,2	K562	blood:
4	chr8:125052149..125053721-chr8:125383460..125385142,2	MCF-7	breast:
5	chr8:125357388..125359258-chr8:125359520..125361729,2	K562	blood:
6	chr8:125373697..125375415-chr8:125381525..125384345,2	MCF-7	breast:
7	chr8:125366977..125369819-chr8:125389166..125390857,2	K562	blood:
8	chr8:125340865..125342625-chr8:125376929..125379138,2	MCF-7	breast:
9	chr8:124792618..124794440-chr8:125383847..125385509,2	MCF-7	breast:
10	chr8:125337424..125341244-chr8:125341867..125344494,3	K562	blood:
11	chr8:125349010..125350825-chr8:125354672..125357110,2	MCF-7	breast:
12	chr8:125340663..125343070-chr8:125358970..125360934,2	K562	blood:
13	chr8:125348366..125351032-chr8:125352603..125355350,3	K562	blood:
14	chr8:125392951..125395691-chr8:125397575..125400496,2	MCF-7	breast:
15	chr8:125348366..125351032-chr8:125353467..125355350,2	K562	blood:
16	chr8:99056796..99059426-chr8:125344320..125347109,2	MCF-7	breast:
17	chr8:125363535..125365939-chr8:125365968..125368194,2	K562	blood:
18	chr8:125342566..125344974-chr8:125348992..125350712,2	K562	blood:
19	chr8:125392951..125395691-chr8:125397575..125400496,2	MCF-7	breast:
20	chr3:49057558..49059762-chr8:125368622..125371309,2	MCF-7	breast:
21	chr8:125380396..125382052-chr8:125382659..125384185,2	K562	blood:
22	chr8:125382316..125385795-chr8:125410414..125414500,4	MCF-7	breast:
23	chr8:125359878..125362922-chr8:125366804..125368717,4	K562	blood:
24	chr8:125353704..125355913-chr8:125356266..125359505,3	MCF-7	breast:
25	chr8:125357388..125359258-chr8:125359520..125361729,2	K562	blood:
26	chr8:125338106..125341622-chr8:125346657..125350721,4	MCF-7	breast:
27	chr8:125366912..125369659-chr8:125371312..125373156,2	K562	blood:
28	chr8:125342566..125344974-chr8:125348992..125350712,2	K562	blood:
29	chr8:124778955..124781096-chr8:125382427..125384445,2	MCF-7	breast:
30	chr8:125383456..125386526-chr8:125392449..125395864,3	MCF-7	breast:
31	chr8:125345830..125347942-chr8:125350849..125353418,2	MCF-7	breast:
32	chr8:125259085..125259702-chr8:125384481..125385306,2	MCF-7	breast:
33	chr8:125343485..125345851-chr8:125355810..125358693,2	MCF-7	breast:
34	chr8:125283455..125287567-chr8:125381773..125385340,3	MCF-7	breast:
35	chr8:125343485..125345851-chr8:125355810..125358693,2	MCF-7	breast:
36	chr8:125430987..125433174-chr8:125436627..125439143,3	MCF-7	breast:
37	chr8:125357705..125360687-chr8:125362557..125365211,4	K562	blood:
38	chr8:125357705..125360687-chr8:125362557..125365211,4	K562	blood:
39	chr8:125366347..125368415-chr8:125380893..125382966,2	MCF-7	breast:
40	chr8:125340865..125342625-chr8:125376929..125379138,2	MCF-7	breast:
41	chr8:125334967..125336817-chr8:125345932..125347614,2	MCF-7	breast:
42	chr8:125383110..125385797-chr8:125388504..125391185,6	MCF-7	breast:
43	chr8:125373697..125375415-chr8:125381525..125384345,2	MCF-7	breast:
44	chr8:125049737..125050909-chr8:125384988..125386022,4	MCF-7	breast:
45	chr8:125375411..125378437-chr8:125382483..125385069,3	K562	blood:
46	chr8:125366683..125371007-chr8:125384186..125388697,5	K562	blood:
47	chr8:125347174..125349341-chr8:125383530..125386281,3	MCF-7	breast:
48	chr8:125052912..125056665-chr8:125383684..125385533,3	MCF-7	breast:
49	chr8:125357308..125361661-chr8:125382633..125386691,6	MCF-7	breast:
50	chr8:125389312..125391092-chr8:125434366..125436156,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM65	TF binding region
TMEM65	CpG island
ENSG00000214803	chromatin interactions
ENSG00000250727	chromatin interactions
ENSG00000137845	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000156482	chromatin interactions
ENSG00000253227	chromatin interactions
ENSG00000164983	chromatin interactions
ENSG00000254249	chromatin interactions
ENSG00000176853	chromatin interactions
ENSG00000207605	chromatin interactions
ENSG00000199032	chromatin interactions
ENSG00000181171	chromatin interactions

Extended variants
information (count: 3219 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:3219 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11992924	chr8:125338216-125338217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575630274	chr8:125338244-125338245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577421752	chr8:125338313-125338314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537832553	chr8:125338327-125338328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72711168	chr8:125338367-125338368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181683857	chr8:125338379-125338380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546076485	chr8:125338400-125338401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559590286	chr8:125338410-125338411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573043779	chr8:125338433-125338434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139822075	chr8:125338436-125338437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549125474	chr8:125338438-125338439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77653144	chr8:125338443-125338444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533418081	chr8:125338467-125338468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530554975	chr8:125338468-125338469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72711169	chr8:125338481-125338482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs57243330	chr8:125338555-125338556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533449460	chr8:125338612-125338613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145579244	chr8:125338744-125338745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561393531	chr8:125338758-125338759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186846988	chr8:125338776-125338777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60012202	chr8:125338799-125338800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549486995	chr8:125338905-125338906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140386441	chr8:125338971-125338972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58660264	chr8:125338981-125338982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190730650	chr8:125338991-125338992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557873091	chr8:125338993-125338994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578036067	chr8:125338996-125338997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369316311	chr8:125339001-125339002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539764063	chr8:125339023-125339024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113449098	chr8:125339080-125339081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553269211	chr8:125339159-125339160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573106957	chr8:125339227-125339228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111786328	chr8:125339397-125339398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561867893	chr8:125339418-125339419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187207475	chr8:125339455-125339456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114043047	chr8:125339469-125339470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372736998	chr8:125339496-125339497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538892323	chr8:125339497-125339498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142970390	chr8:125339600-125339601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367663079	chr8:125339643-125339644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532224599	chr8:125339646-125339647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146112743	chr8:125339647-125339648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371454828	chr8:125339649-125339650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138888643	chr8:125339661-125339662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35685471	chr8:125339681-125339682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200995405	chr8:125339694-125339695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372469305	chr8:125339711-125339712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562328888	chr8:125339751-125339752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560394050	chr8:125339831-125339832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76103004	chr8:125339909-125339910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:146)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1431 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125312600-125346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:125314200-125340200	Weak transcription	Placenta	Placenta
3	chr8:125321800-125339000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:125327200-125338400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:125332000-125352800	Weak transcription	Fetal Lung	lung
6	chr8:125332400-125338400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:125332400-125339000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:125332400-125340400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr8:125332400-125351000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:125332600-125348000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:125332800-125346000	Weak transcription	Hela-S3	cervix
12	chr8:125333200-125340600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:125333800-125345800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:125334000-125338800	Weak transcription	Fetal Heart	heart
15	chr8:125334000-125345800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:125334000-125345800	Weak transcription	HMEC	breast
17	chr8:125334200-125340000	Weak transcription	HSMM	muscle
18	chr8:125334200-125340600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:125334200-125343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
21	chr8:125334600-125339000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:125334800-125338400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:125336400-125339200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr8:125336800-125347200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:125337000-125338400	Enhancers	A549	lung
26	chr8:125337400-125339200	Enhancers	Primary T cells from cord blood	blood
27	chr8:125337600-125339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:125337600-125339400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr8:125338000-125338400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:125338000-125345600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:125338000-125347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:125338200-125338600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:125338400-125339200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:125338400-125339200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr8:125338400-125339400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr8:125338400-125346000	Weak transcription	A549	lung
37	chr8:125338600-125339200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:125338800-125339200	Enhancers	Fetal Heart	heart
39	chr8:125339000-125339200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:125339000-125339200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr8:125339000-125340000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:125339200-125339400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:125339200-125343000	Weak transcription	Fetal Heart	heart
44	chr8:125339200-125343200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:125339200-125344400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:125339200-125347000	Weak transcription	Primary T cells from cord blood	blood
47	chr8:125339400-125339800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:125339400-125344600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:125339800-125340000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr8:125340000-125346000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

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