Variant report

Variant	esv3326983
Chromosome Location	chr17:16138963-16210147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1791)
CpG islands
(count:489)
Chromatin interactive
region (count:70)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1791 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:16147276-16147449	K562	blood:	n/a	n/a
2	ARID3A	chr17:16154007-16154298	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:16150559-16150882	HepG2	liver:	n/a	n/a
4	ARID3A	chr17:16189226-16190064	K562	blood:	n/a	n/a
5	ARID3A	chr17:16201357-16201395	K562	blood:	n/a	n/a
6	ARID3A	chr17:16208189-16208341	K562	blood:	n/a	n/a
7	ARID3A	chr17:16208058-16208415	HepG2	liver:	n/a	n/a
8	ARID3A	chr17:16192208-16192853	HepG2	liver:	n/a	n/a
9	ARID3A	chr17:16197938-16198190	HepG2	liver:	n/a	n/a
10	ARID3A	chr17:16200276-16201892	HepG2	liver:	n/a	n/a
11	ARID3A	chr17:16188276-16188280	K562	blood:	n/a	n/a
12	ARID3A	chr17:16189122-16190127	HepG2	liver:	n/a	n/a
13	ARID3A	chr17:16201697-16201897	K562	blood:	n/a	n/a
14	ARID3A	chr17:16199348-16199619	HepG2	liver:	n/a	n/a
15	ATF1	chr17:16178409-16178659	K562	blood:	n/a	n/a
16	ATF1	chr17:16187993-16188034	K562	blood:	n/a	n/a
17	ATF1	chr17:16189151-16190166	K562	blood:	n/a	n/a
18	ATF1	chr17:16176843-16177155	K562	blood:	n/a	n/a
19	ATF1	chr17:16190955-16191384	K562	blood:	n/a	n/a
20	ATF2	chr17:16189102-16189601	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr17:16189972-16191467	GM12878	blood:	n/a	n/a
22	ATF2	chr17:16190626-16191343	GM12878	blood:	n/a	n/a
23	ATF2	chr17:16189161-16190136	GM12878	blood:	n/a	n/a
24	ATF2	chr17:16189038-16189830	GM12878	blood:	n/a	n/a
25	ATF2	chr17:16189108-16189571	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr17:16190158-16190569	GM12878	blood:	n/a	n/a
27	ATF3	chr17:16189051-16190255	A549	lung:	n/a	n/a
28	ATF3	chr17:16189018-16190294	A549	lung:	n/a	n/a
29	BATF	chr17:16199423-16199669	GM12878	blood:	n/a	chr17:16199531-16199542
30	BCL11A	chr17:16190202-16190580	GM12878	blood:	n/a	n/a
31	BCL11A	chr17:16191086-16191313	GM12878	blood:	n/a	n/a
32	BCL11A	chr17:16190139-16190644	GM12878	blood:	n/a	n/a
33	BCL3	chr17:16189028-16190225	A549	lung:	n/a	chr17:16189598-16189607 chr17:16189799-16189808
34	BCL3	chr17:16188925-16190578	A549	lung:	n/a	chr17:16189598-16189607 chr17:16189799-16189808
35	BCLAF1	chr17:16171398-16171956	GM12878	blood:	n/a	n/a
36	BCLAF1	chr17:16189122-16190692	GM12878	blood:	n/a	chr17:16189598-16189607 chr17:16189799-16189808
37	BCLAF1	chr17:16190697-16191420	GM12878	blood:	n/a	n/a
38	BHLHE40	chr17:16176559-16177628	K562	blood:	n/a	n/a
39	BHLHE40	chr17:16189093-16189966	K562	blood:	n/a	chr17:16189596-16189612
40	BHLHE40	chr17:16189202-16190615	GM12878	blood:	n/a	chr17:16189596-16189612
41	BHLHE40	chr17:16189110-16189952	A549	lung:	n/a	chr17:16189596-16189612
42	BHLHE40	chr17:16190589-16190607	K562	blood:	n/a	n/a
43	BHLHE40	chr17:16189138-16190004	HepG2	liver:	n/a	chr17:16189596-16189612
44	BRCA1	chr17:16189298-16189498	GM12878	blood:	n/a	n/a
45	BRCA1	chr17:16189135-16190349	Hela-S3	cervix:	n/a	chr17:16190048-16190055
46	BRCA1	chr17:16189864-16190338	GM12878	blood:	n/a	chr17:16190048-16190055
47	BRCA1	chr17:16190988-16191324	Hela-S3	cervix:	n/a	chr17:16191153-16191160
48	CBX3	chr17:16199310-16199800	HCT-116	colon:	n/a	n/a
49	CBX3	chr17:16189086-16189955	K562	blood:	n/a	n/a
50	CBX3	chr17:16180547-16180865	K562	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16190098-16190148	Hepatocyte	liver:	n/a
2	chr17:16190098-16190148	Hepatocyte	liver:	n/a
3	chr17:16190098-16190148	HNPCEpiC	eye:	n/a
4	chr17:16190098-16190148	GM12878	blood:	n/a
5	chr17:16158686-16158736	HCPEpiC	choroid plexus:	n/a
6	chr17:16158686-16158736	PFSK-1	brain:	n/a
7	chr17:16184961-16185011	AG04449	skin:	fetal
8	chr17:16176891-16176941	AG10803	skin:	n/a
9	chr17:16158686-16158736	HL-60	blood:	n/a
10	chr17:16189554-16189604	SAEC	small airway:	n/a
11	chr17:16190098-16190148	AG09319	gingival:	n/a
12	chr17:16189554-16189604	IMR90	lung:	fetal
13	chr17:16190098-16190148	GM12892	blood:	n/a
14	chr17:16189554-16189604	HCF	heart:	n/a
15	chr17:16184961-16185011	HL-60	blood:	n/a
16	chr17:16205608-16205658	GM06990	blood:	n/a
17	chr17:16205608-16205658	Hepatocyte	liver:	n/a
18	chr17:16176891-16176941	HL-60	blood:	n/a
19	chr17:16205608-16205658	Jurkat	blood:	n/a
20	chr17:16200581-16200631	HNPCEpiC	eye:	n/a
21	chr17:16190098-16190148	A549	lung:	n/a
22	chr17:16176891-16176941	HRCEpiC	kidney:	n/a
23	chr17:16189554-16189604	GM12891	blood:	n/a
24	chr17:16190098-16190148	AoSMC	blood vessel:	n/a
25	chr17:16184961-16185011	PANC-1	pancreas:	n/a
26	chr17:16158686-16158736	HNPCEpiC	eye:	n/a
27	chr17:16200581-16200631	ECC-1	luminal epithelium:	n/a
28	chr17:16184961-16185011	ovcar-3	ovarian:	n/a
29	chr17:16185300-16185350	GM12878	blood:	n/a
30	chr17:16158686-16158736	IMR90	lung:	fetal
31	chr17:16189554-16189604	HepG2	liver:	n/a
32	chr17:16205608-16205658	PFSK-1	brain:	n/a
33	chr17:16189554-16189604	HMEC	breast:	n/a
34	chr17:16185300-16185350	HCF	heart:	n/a
35	chr17:16189554-16189604	HUVEC	blood vessel:	n/a
36	chr17:16176891-16176941	HCF	heart:	n/a
37	chr17:16185300-16185350	NHBE	bronchial:	n/a
38	chr17:16189554-16189604	AoSMC	blood vessel:	n/a
39	chr17:16189554-16189604	CMK	blood:	n/a
40	chr17:16205608-16205658	AG10803	skin:	n/a
41	chr17:16200581-16200631	HPAEpiC	pulmonary alveolar:	n/a
42	chr17:16200581-16200631	NHBE	bronchial:	n/a
43	chr17:16205608-16205658	K562	blood:	n/a
44	chr17:16205608-16205658	AG04449	skin:	fetal
45	chr17:16185300-16185350	BJ	skin:	n/a
46	chr17:16158686-16158736	K562	blood:	n/a
47	chr17:16176891-16176941	HepG2	liver:	n/a
48	chr17:16205608-16205658	HRCEpiC	kidney:	n/a
49	chr17:16184961-16185011	Hepatocyte	liver:	n/a
50	chr17:16158686-16158736	HUVEC	blood vessel:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:16188284..16190570-chr17:16196788..16199758,2	MCF-7	breast:
2	chr17:16174439..16177068-chr17:16182949..16184575,2	MCF-7	breast:
3	chr17:16188324..16192785-chr17:16195612..16200767,7	K562	blood:
4	chr17:16195928..16197908-chr17:16204367..16207152,2	MCF-7	breast:
5	chr17:16200899..16203250-chr17:16255002..16257241,2	K562	blood:
6	chr17:16189512..16190026-chr4:184425523..184426443,2	Hela-S3	cervix:
7	chr17:16118010..16120268-chr17:16181462..16183688,2	MCF-7	breast:
8	chr17:16195928..16197908-chr17:16204367..16207152,2	MCF-7	breast:
9	chr12:52445147..52446136-chr17:16189228..16189895,2	Hela-S3	cervix:
10	chr17:16175952..16178833-chr17:16340980..16343574,2	K562	blood:
11	chr11:66824166..66825093-chr17:16189350..16190245,2	Hela-S3	cervix:
12	chr17:16188817..16191161-chr17:16192710..16195262,3	K562	blood:
13	chr17:16188284..16190570-chr17:16196788..16199758,2	MCF-7	breast:
14	chr17:16174439..16177068-chr17:16182949..16184575,2	MCF-7	breast:
15	chr17:16189274..16189815-chr17:16492735..16493319,2	K562	blood:
16	chr17:16187182..16191519-chr17:16253380..16257839,12	K562	blood:
17	chr17:16171393..16174312-chr17:16182076..16184658,2	K562	blood:
18	chr17:16194799..16198455-chr17:16198846..16202251,3	K562	blood:
19	chr17:16188324..16192785-chr17:16195612..16200767,7	K562	blood:
20	chr17:16145216..16149469-chr17:16187670..16191741,4	K562	blood:
21	chr17:16195813..16198372-chr17:16206381..16207960,2	K562	blood:
22	chr17:16189537..16191519-chr17:16254605..16257719,4	K562	blood:
23	chr17:16189283..16191732-chr17:16340312..16342740,3	K562	blood:
24	chr17:16187486..16189872-chr17:16204122..16205730,2	K562	blood:
25	chr17:16165701..16168526-chr17:16175025..16177234,2	K562	blood:
26	chr17:15903013..15904543-chr17:16188328..16190866,2	K562	blood:
27	chr17:16175613..16177526-chr17:16233253..16235585,2	K562	blood:
28	chr17:16195813..16198372-chr17:16206381..16207960,2	K562	blood:
29	chr17:16171393..16174312-chr17:16182076..16184658,2	K562	blood:
30	chr17:16165701..16168526-chr17:16175025..16177234,2	K562	blood:
31	chr17:16115662..16122557-chr17:16186487..16191394,14	K562	blood:
32	chr17:16175415..16178833-chr17:16340980..16343676,3	K562	blood:
33	chr17:16116139..16120988-chr17:16188310..16192683,4	MCF-7	breast:
34	chr17:16186841..16189386-chr17:16329179..16331754,2	K562	blood:
35	chr17:16171013..16172613-chr17:16176178..16178945,3	K562	blood:
36	chr17:16187581..16189884-chr17:16319390..16322808,3	MCF-7	breast:
37	chr17:16189235..16191423-chr8:145514360..145516525,2	MCF-7	breast:
38	chr17:16187904..16189901-chr17:16279665..16281574,2	K562	blood:
39	chr17:16196597..16198455-chr17:16199967..16201476,2	K562	blood:
40	chr17:16187586..16189942-chr17:16288272..16290093,2	K562	blood:
41	chr17:16196597..16198455-chr17:16199967..16201476,2	K562	blood:
42	chr17:16198554..16200969-chr17:16344416..16346385,2	K562	blood:
43	chr17:16201566..16203146-chr17:16204706..16207584,2	K562	blood:
44	chr17:16133803..16136363-chr17:16137901..16140091,2	MCF-7	breast:
45	chr17:16188539..16190770-chr17:16316162..16319521,3	K562	blood:
46	chr17:16188816..16189363-chr17:16208174..16208744,2	K562	blood:
47	chr17:16145216..16149469-chr17:16187670..16191741,4	K562	blood:
48	chr17:16188816..16189363-chr17:16208174..16208744,2	K562	blood:
49	chr17:16117718..16121022-chr17:16187128..16190907,4	MCF-7	breast:
50	chr17:16187978..16191408-chr17:16282408..16285625,11	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1288-3p	chr17:16185372-16185392	MIMAT0005942
hsa-miR-1288-5p	chr17:16185342-16185364	MIMAT0026743

No data

Variant related genes	Relation type
MIR1288	TF binding region
MIR1288	CpG island
ENSG00000175061	chromatin interactions
ENSG00000185122	chromatin interactions
ENSG00000264739	chromatin interactions
ENSG00000167005	chromatin interactions
ENSG00000170315	chromatin interactions
ENSG00000239203	chromatin interactions
ENSG00000168556	chromatin interactions
ENSG00000087263	chromatin interactions
ENSG00000187688	chromatin interactions
ENSG00000173156	chromatin interactions
ENSG00000108474	chromatin interactions
ENSG00000214941	chromatin interactions
ENSG00000166582	chromatin interactions
ENSG00000170727	chromatin interactions
ENSG00000011295	chromatin interactions
ENSG00000141027	chromatin interactions
ENSG00000221355	chromatin interactions
ENSG00000232648	chromatin interactions
ENSG00000266651	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000265401	chromatin interactions

Extended variants
information (count: 2574 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:2574 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538979012	chr17:16138988-16138989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570471105	chr17:16138992-16138993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183762650	chr17:16139019-16139020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9897070	chr17:16139065-16139066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35285920	chr17:16139066-16139067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561848496	chr17:16139067-16139068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117353663	chr17:16139091-16139092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546573484	chr17:16139092-16139093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12945855	chr17:16139149-16139150	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs374246736	chr17:16139178-16139179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368640226	chr17:16139223-16139224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536132433	chr17:16139252-16139253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372317399	chr17:16139256-16139257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9896275	chr17:16139261-16139262	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538522703	chr17:16139279-16139280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188433355	chr17:16139336-16139337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375592419	chr17:16139391-16139392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557792230	chr17:16139434-16139435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577975198	chr17:16139515-16139516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367594703	chr17:16139573-16139574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554118952	chr17:16139574-16139575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573080064	chr17:16139585-16139586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149960301	chr17:16139586-16139587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561879521	chr17:16139587-16139588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530683449	chr17:16139588-16139589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79242972	chr17:16139601-16139602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578180896	chr17:16139605-16139606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552989751	chr17:16139620-16139621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79109333	chr17:16139627-16139628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376726234	chr17:16139658-16139659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533037463	chr17:16139805-16139806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546313736	chr17:16139814-16139815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560073762	chr17:16139828-16139829	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115865344	chr17:16139862-16139863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549232660	chr17:16139928-16139929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550389959	chr17:16139935-16139936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572751415	chr17:16139945-16139946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181783195	chr17:16140048-16140049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11652044	chr17:16140054-16140055	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs551547746	chr17:16140094-16140095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35751075	chr17:16140102-16140103	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7219335	chr17:16140161-16140162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534276831	chr17:16140189-16140190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75074449	chr17:16140277-16140278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553899361	chr17:16140290-16140291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573943701	chr17:16140376-16140377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535757280	chr17:16140401-16140402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185698106	chr17:16140402-16140403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555653169	chr17:16140404-16140405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575606389	chr17:16140407-16140408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:160)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	17550852	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:1871 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16121000-16163200	Weak transcription	Spleen	Spleen
2	chr17:16121200-16141400	Weak transcription	Brain Substantia Nigra	brain
3	chr17:16121200-16142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:16121200-16157000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:16121200-16158800	Weak transcription	Left Ventricle	heart
6	chr17:16121200-16159800	Weak transcription	Lung	lung
7	chr17:16121200-16163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:16121400-16140200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:16121400-16140400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:16121400-16141400	Weak transcription	Colon Smooth Muscle	Colon
11	chr17:16121400-16158600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr17:16121400-16158800	Weak transcription	Fetal Muscle Leg	muscle
13	chr17:16121400-16159000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:16121400-16170600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr17:16121600-16139200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr17:16121600-16139400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:16121600-16143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:16121600-16143000	Weak transcription	Fetal Lung	lung
19	chr17:16121600-16147000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:16121600-16150200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr17:16121600-16151800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr17:16121600-16158400	Weak transcription	Brain Hippocampus Middle	brain
23	chr17:16121600-16158600	Weak transcription	Brain Germinal Matrix	brain
24	chr17:16121800-16139000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:16121800-16139200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:16121800-16146600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:16121800-16150200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr17:16121800-16153600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:16121800-16158200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:16121800-16158400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:16122000-16163400	Weak transcription	Fetal Brain Female	brain
34	chr17:16122200-16146800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:16122200-16150200	Weak transcription	Liver	Liver
36	chr17:16122400-16139400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:16123000-16154200	Weak transcription	Ovary	ovary
38	chr17:16124200-16158200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:16126200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:16126200-16163400	Weak transcription	Primary B cells from cord blood	blood
41	chr17:16126400-16158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr17:16126600-16153800	Weak transcription	A549	lung
43	chr17:16127000-16140200	Weak transcription	Fetal Stomach	stomach
44	chr17:16127600-16158600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:16127800-16147000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:16130400-16146000	Weak transcription	K562	blood
47	chr17:16130400-16147000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr17:16132200-16140800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr17:16132200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:16132400-16144800	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links