Variant report

Variant	nsv603192
Chromosome Location	chr6:57218436-57381883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1344)
CpG islands
(count:732)
Chromatin interactive
region (count:44)
LncRNA
region (count:5)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:57236576-57237274	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:57364923-57365929	HepG2	liver:	n/a	n/a
3	ATF1	chr6:57296724-57296768	K562	blood:	n/a	n/a
4	ATF1	chr6:57329848-57330048	K562	blood:	n/a	n/a
5	ATF2	chr6:57288167-57288786	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:57288321-57288802	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr6:57350106-57350125	K562	blood:	n/a	n/a
8	BACH1	chr6:57365814-57365865	K562	blood:	n/a	n/a
9	BACH1	chr6:57228847-57228853	K562	blood:	n/a	n/a
10	BACH1	chr6:57364094-57364109	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr6:57269047-57269216	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr6:57334050-57334159	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr6:57288493-57288790	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr6:57337567-57337643	K562	blood:	n/a	n/a
15	BACH1	chr6:57363671-57363854	K562	blood:	n/a	n/a
16	BACH1	chr6:57305657-57305828	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr6:57254076-57254287	GM12878	blood:	n/a	chr6:57254189-57254200
18	BCL11A	chr6:57284786-57285093	GM12878	blood:	n/a	n/a
19	BCL11A	chr6:57284708-57285068	GM12878	blood:	n/a	n/a
20	BCL11A	chr6:57288294-57288755	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCL11A	chr6:57288290-57288688	H1-hESC	embryonic stem cell:	n/a	n/a
22	BHLHE40	chr6:57284768-57285156	GM12878	blood:	n/a	n/a
23	BHLHE40	chr6:57298227-57298377	GM12878	blood:	n/a	n/a
24	BHLHE40	chr6:57375272-57375472	GM12878	blood:	n/a	n/a
25	BHLHE40	chr6:57268781-57268800	K562	blood:	n/a	n/a
26	BRCA1	chr6:57249520-57249524	GM12878	blood:	n/a	n/a
27	BRCA1	chr6:57370484-57370781	GM12878	blood:	n/a	n/a
28	BRCA1	chr6:57381413-57381830	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr6:57229139-57229210	GM12878	blood:	n/a	n/a
30	CBX3	chr6:57253942-57254357	HCT-116	colon:	n/a	n/a
31	CCNT2	chr6:57249858-57249985	K562	blood:	n/a	n/a
32	CCNT2	chr6:57337935-57338250	K562	blood:	n/a	n/a
33	CCNT2	chr6:57376252-57377005	K562	blood:	n/a	n/a
34	CCNT2	chr6:57354598-57355019	K562	blood:	n/a	n/a
35	CEBPB	chr6:57223675-57223974	HepG2	liver:	n/a	chr6:57223813-57223824
36	CEBPB	chr6:57365064-57365775	HepG2	liver:	n/a	n/a
37	CEBPB	chr6:57345014-57345344	IMR90	lung:	n/a	n/a
38	CEBPB	chr6:57342573-57342758	K562	blood:	n/a	chr6:57342732-57342743 chr6:57342730-57342741 chr6:57342730-57342743 chr6:57342732-57342741 chr6:57342732-57342741 chr6:57342730-57342743 chr6:57342732-57342741 chr6:57342730-57342743 chr6:57342732-57342741
39	CEBPB	chr6:57309423-57309721	HepG2	liver:	n/a	chr6:57309567-57309578 chr6:57309569-57309580 chr6:57309567-57309580
40	CEBPB	chr6:57223711-57223972	K562	blood:	n/a	chr6:57223813-57223824
41	CEBPB	chr6:57342547-57342921	IMR90	lung:	n/a	chr6:57342732-57342743 chr6:57342730-57342741 chr6:57342730-57342743 chr6:57342732-57342741 chr6:57342732-57342741 chr6:57342730-57342743 chr6:57342732-57342741 chr6:57342730-57342743 chr6:57342732-57342741
42	CEBPB	chr6:57309469-57309669	IMR90	lung:	n/a	chr6:57309567-57309578 chr6:57309569-57309580 chr6:57309567-57309580
43	CEBPB	chr6:57339741-57340235	A549	lung:	n/a	chr6:57340072-57340083
44	CEBPB	chr6:57380194-57380517	H1-hESC	embryonic stem cell:	n/a	chr6:57380307-57380318
45	CEBPB	chr6:57363427-57363693	K562	blood:	n/a	chr6:57363543-57363556 chr6:57363543-57363556 chr6:57363543-57363556 chr6:57363543-57363554
46	CEBPB	chr6:57232651-57232929	HepG2	liver:	n/a	n/a
47	CEBPB	chr6:57363905-57364223	HepG2	liver:	n/a	n/a
48	CEBPB	chr6:57342559-57342815	K562	blood:	n/a	chr6:57342732-57342743 chr6:57342730-57342741 chr6:57342730-57342743 chr6:57342732-57342741 chr6:57342732-57342741 chr6:57342730-57342743 chr6:57342732-57342741 chr6:57342730-57342743 chr6:57342732-57342741
49	CEBPB	chr6:57380157-57380496	IMR90	lung:	n/a	chr6:57380307-57380318
50	CEBPB	chr6:57372189-57372470	H1-hESC	embryonic stem cell:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:57350270-57350320	SK-N-SH	brain:	n/a
2	chr6:57306409-57306459	NB4	blood:	n/a
3	chr6:57235407-57235457	K562	blood:	n/a
4	chr6:57350270-57350320	GM19239	blood:	n/a
5	chr6:57272398-57272448	Hela-S3	cervix:	n/a
6	chr6:57235407-57235457	LNCaP	prostate:	n/a
7	chr6:57350270-57350320	HCPEpiC	choroid plexus:	n/a
8	chr6:57339858-57339908	NHBE	bronchial:	n/a
9	chr6:57350270-57350320	U87	brain:	n/a
10	chr6:57218853-57218903	HRCEpiC	kidney:	n/a
11	chr6:57359134-57359184	SK-N-SH_RA	brain:	n/a
12	chr6:57305889-57305939	GM06990	blood:	n/a
13	chr6:57339858-57339908	BE2_C	brain:	n/a
14	chr6:57288411-57288461	NH-A	brain:	n/a
15	chr6:57235407-57235457	NH-A	brain:	n/a
16	chr6:57350270-57350320	MCF10A-Er-Src	breast:	n/a
17	chr6:57335405-57335455	AG09319	gingival:	n/a
18	chr6:57305889-57305939	T-47D	breast:	n/a
19	chr6:57350270-57350320	HRE	kidney:	n/a
20	chr6:57272398-57272448	HRE	kidney:	n/a
21	chr6:57350270-57350320	AG09319	gingival:	n/a
22	chr6:57359134-57359184	NHDF-neo	bronchial:	n/a
23	chr6:57245939-57245989	SKMC	muscle:	n/a
24	chr6:57235407-57235457	AoSMC	blood vessel:	n/a
25	chr6:57253598-57253648	GM12892	blood:	n/a
26	chr6:57359134-57359184	U87	brain:	n/a
27	chr6:57339858-57339908	SK-N-SH	brain:	n/a
28	chr6:57339858-57339908	AG09319	gingival:	n/a
29	chr6:57359134-57359184	AG09319	gingival:	n/a
30	chr6:57245939-57245989	CMK	blood:	n/a
31	chr6:57359134-57359184	HEK293	kidney:	embryo
32	chr6:57305889-57305939	Hepatocyte	liver:	n/a
33	chr6:57335405-57335455	RPTEC	kidney:	n/a
34	chr6:57218853-57218903	HMEC	breast:	n/a
35	chr6:57245939-57245989	HEEpiC	esophagus:	n/a
36	chr6:57339858-57339908	NB4	blood:	n/a
37	chr6:57253598-57253648	HIPEpiC	eye:	n/a
38	chr6:57350270-57350320	ProgFib	skin:	n/a
39	chr6:57306409-57306459	AG09319	gingival:	n/a
40	chr6:57350270-57350320	SK-N-MC	brain:	n/a
41	chr6:57305889-57305939	HEK293	kidney:	embryo
42	chr6:57305889-57305939	NT2-D1	testis:	n/a
43	chr6:57350270-57350320	BJ	skin:	n/a
44	chr6:57253598-57253648	SK-N-SH_RA	brain:	n/a
45	chr6:57339858-57339908	NT2-D1	testis:	n/a
46	chr6:57305889-57305939	HAEpiC	amniotic membrane:	n/a
47	chr6:57359134-57359184	PFSK-1	brain:	n/a
48	chr6:57305889-57305939	MCF10A-Er-Src	breast:	n/a
49	chr6:57335405-57335455	GM06990	blood:	n/a
50	chr6:57272398-57272448	RPTEC	kidney:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:57346719..57348670-chr6:57349128..57351994,2	MCF-7	breast:
2	chr6:57358740..57361214-chr6:57362213..57364300,2	K562	blood:
3	chr6:57229138..57231697-chr6:57233407..57236328,3	K562	blood:
4	chr6:57287892..57290689-chr6:57302857..57304913,2	K562	blood:
5	chr6:57370604..57372865-chr6:57373848..57376238,2	K562	blood:
6	chr6:57198328..57200503-chr6:57228180..57229836,2	K562	blood:
7	chr6:57371365..57373576-chr6:57373848..57375922,2	K562	blood:
8	chr6:57302195..57303819-chr6:57305158..57307849,2	MCF-7	breast:
9	chr6:57297690..57300107-chr6:57303137..57305465,2	MCF-7	breast:
10	chr6:57230388..57232358-chr6:57233911..57236761,3	MCF-7	breast:
11	chr6:57226391..57228337-chr6:57232279..57234513,2	K562	blood:
12	chr6:57232895..57235001-chr6:57373838..57375777,2	K562	blood:
13	chr6:57285506..57287843-chr6:57289585..57292088,2	MCF-7	breast:
14	chr6:57214841..57217586-chr6:57224303..57226247,2	K562	blood:
15	chr6:57297598..57300578-chr6:57301764..57305557,4	K562	blood:
16	chr6:57358740..57361214-chr6:57362213..57364300,2	K562	blood:
17	chr6:57230388..57232358-chr6:57233911..57236761,3	MCF-7	breast:
18	chr6:57368098..57370585-chr6:57379961..57384432,3	K562	blood:
19	chr6:57232895..57235001-chr6:57373838..57375777,2	K562	blood:
20	chr6:57337415..57340116-chr6:57349926..57352459,2	K562	blood:
21	chr6:57337415..57340116-chr6:57349926..57352459,2	K562	blood:
22	chr6:57344628..57347602-chr6:57348060..57349813,2	K562	blood:
23	chr6:57293162..57295571-chr6:57300739..57302981,3	K562	blood:
24	chr6:57285506..57287843-chr6:57289585..57292088,2	MCF-7	breast:
25	chr6:57297690..57300107-chr6:57303137..57305465,2	MCF-7	breast:
26	chr6:57229138..57231697-chr6:57233407..57236328,3	K562	blood:
27	chr6:57346719..57348670-chr6:57349128..57351994,2	MCF-7	breast:
28	chr6:57296504..57298287-chr6:57300033..57301535,2	K562	blood:
29	chr6:57225893..57228835-chr6:57230897..57233508,2	K562	blood:
30	chr6:57297598..57300578-chr6:57301764..57305557,4	K562	blood:
31	chr6:57361390..57363831-chr6:57368584..57370615,2	MCF-7	breast:
32	chr6:57371365..57373576-chr6:57373848..57375922,2	K562	blood:
33	chr6:57287892..57290689-chr6:57302857..57304913,2	K562	blood:
34	chr6:57380965..57383908-chr6:57390419..57392004,2	K562	blood:
35	chr6:57187827..57190385-chr6:57223942..57226286,2	MCF-7	breast:
36	chr6:57370604..57372865-chr6:57373848..57376238,2	K562	blood:
37	chr6:57226391..57228337-chr6:57232279..57234513,2	K562	blood:
38	chr6:57296504..57298287-chr6:57300033..57301535,2	K562	blood:
39	chr6:57293162..57295571-chr6:57300739..57302981,3	K562	blood:
40	chr6:57302195..57303819-chr6:57305158..57307849,2	MCF-7	breast:
41	chr6:57349293..57351634-chr6:57356907..57359151,3	MCF-7	breast:
42	chr6:57244329..57246093-chr6:57248866..57250667,2	K562	blood:
43	chr6:57225893..57228835-chr6:57230897..57233508,2	K562	blood:
44	chr6:57344628..57347602-chr6:57348060..57349813,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB23-9	chr6:57235203-57235424	ucscGeneNc_uc003pdu_1
2	lnc-RAB23-9	chr6:57233281-57234474	ucscGeneNc_uc003pdu_1
3	lnc-BAG2-1	chr6:57362331-57362565	ENSG00000266579.1
4	lnc-RAB23-9	chr6:57236060-57236103	ucscGeneNc_uc003pdu_1
5	lnc-BAG2-1	chr6:57358736-57358845	ENSG00000266579.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548u	chr6:57254978-57255000	MIMAT0015013

No data

Variant related genes	Relation type
MIR548U	TF binding region
PRIM2	TF binding region
ENSG00000266579	TF binding region
MIR548U	CpG island
PRIM2	CpG island
ENSG00000266579	CpG island
ENSG00000266579	chromatin interactions
ENSG00000146143	chromatin interactions

Extended variants
information (count: 9314 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:9314 , 50 per page) page: 1 2 3 4 5 6 7 ... 187

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9475868	chr6:57218436-57218437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187518544	chr6:57218461-57218462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368542327	chr6:57218545-57218546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191985986	chr6:57218559-57218560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2224386	chr6:57218586-57218587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184534352	chr6:57218601-57218602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563852874	chr6:57218603-57218604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531095761	chr6:57218666-57218667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546433473	chr6:57218684-57218685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2208346	chr6:57218705-57218706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150265721	chr6:57218824-57218825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548490405	chr6:57218827-57218828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564929924	chr6:57218838-57218839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532248234	chr6:57218844-57218845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547561435	chr6:57218853-57218854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2208347	chr6:57218854-57218855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185069092	chr6:57218875-57218876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529687012	chr6:57218892-57218893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7747952	chr6:57218896-57218897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2208348	chr6:57218897-57218898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139635780	chr6:57218923-57218924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7747975	chr6:57218949-57218950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569868191	chr6:57218954-57218955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539042595	chr6:57218997-57218998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9357950	chr6:57219063-57219064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536809754	chr6:57219069-57219070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558336595	chr6:57219084-57219085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570363245	chr6:57219086-57219087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2224387	chr6:57219108-57219109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187878834	chr6:57219111-57219112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573250280	chr6:57219124-57219125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139870772	chr6:57219134-57219135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201328363	chr6:57219137-57219138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs66586261	chr6:57219138-57219139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74542277	chr6:57219163-57219164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574753178	chr6:57219171-57219172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541877368	chr6:57219177-57219178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2208349	chr6:57219179-57219180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2208350	chr6:57219213-57219214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557595232	chr6:57219218-57219219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113074655	chr6:57219246-57219247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367716686	chr6:57219264-57219265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545165766	chr6:57219277-57219278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192770353	chr6:57219307-57219308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9367729	chr6:57219308-57219309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546372447	chr6:57219309-57219310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3800012	chr6:57219326-57219327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564666577	chr6:57219388-57219389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573516595	chr6:57219400-57219401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9357951	chr6:57219436-57219437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2073 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57194600-57226200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:57194600-57244800	Weak transcription	Spleen	Spleen
3	chr6:57195600-57238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:57199600-57221000	Weak transcription	Hela-S3	cervix
5	chr6:57199600-57229000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:57199800-57251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:57208800-57231200	Weak transcription	Aorta	Aorta
8	chr6:57209000-57244800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:57211800-57219000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:57212000-57226000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:57212600-57223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:57214000-57220600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:57214200-57219200	Weak transcription	Primary T cells from cord blood	blood
14	chr6:57214200-57226000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:57215000-57220200	Weak transcription	Thymus	Thymus
16	chr6:57215400-57229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:57215600-57218800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:57215600-57219000	Weak transcription	Osteobl	bone
19	chr6:57215600-57219600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:57215600-57220400	Weak transcription	Pancreas	Pancrea
21	chr6:57216000-57226000	Weak transcription	NHLF	lung
22	chr6:57216400-57221200	Weak transcription	Dnd41	blood
23	chr6:57216600-57225800	Weak transcription	GM12878-XiMat	blood
24	chr6:57217400-57219200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:57217600-57219800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:57217600-57219800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:57217800-57219200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:57217800-57219600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:57217800-57219800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:57218000-57219000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:57218200-57218600	Weak transcription	NHDF-Ad	bronchial
32	chr6:57218200-57219800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:57218600-57219600	Enhancers	NHDF-Ad	bronchial
34	chr6:57218600-57220800	Weak transcription	K562	blood
35	chr6:57218800-57220000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:57219000-57219200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:57219000-57219600	Enhancers	Osteobl	bone
38	chr6:57219400-57220400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:57219600-57219800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:57219600-57219800	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr6:57219600-57223200	Weak transcription	NHDF-Ad	bronchial
42	chr6:57219800-57220000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:57219800-57223000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:57219800-57225000	Weak transcription	Primary T cells from cord blood	blood
45	chr6:57220000-57229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:57220000-57230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:57220200-57220800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:57220200-57221000	ZNF genes & repeats	Thymus	Thymus
49	chr6:57220400-57220800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:57220400-57221000	ZNF genes & repeats	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links