Variant report

Variant	nsv600995
Chromosome Location	chr6:13945067-14009231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:707)
CpG islands
(count:794)
Chromatin interactive
region (count:79)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:707 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:13987431-13988641	K562	blood:	n/a	n/a
2	ARID3A	chr6:13989504-13990017	K562	blood:	n/a	n/a
3	ARID3A	chr6:13992814-13993409	K562	blood:	n/a	n/a
4	ARID3A	chr6:13992437-13992521	K562	blood:	n/a	n/a
5	ARID3A	chr6:13985735-13986518	K562	blood:	n/a	n/a
6	ARID3A	chr6:13979561-13981967	K562	blood:	n/a	chr6:13981703-13981719 chr6:13981743-13981759 chr6:13981742-13981758 chr6:13981704-13981720
7	ATF1	chr6:13987543-13988010	K562	blood:	n/a	n/a
8	ATF1	chr6:13992864-13993262	K562	blood:	n/a	n/a
9	ATF1	chr6:13980163-13980424	K562	blood:	n/a	n/a
10	ATF1	chr6:13986451-13987003	K562	blood:	n/a	n/a
11	ATF3	chr6:13992679-13993179	K562	blood:	n/a	n/a
12	ATF3	chr6:13987569-13987965	K562	blood:	n/a	n/a
13	ATF3	chr6:13992758-13993117	K562	blood:	n/a	n/a
14	BACH1	chr6:13984139-13984159	K562	blood:	n/a	n/a
15	BACH1	chr6:13992857-13993231	K562	blood:	n/a	n/a
16	BHLHE40	chr6:13992840-13993243	K562	blood:	n/a	n/a
17	BHLHE40	chr6:13985983-13986148	K562	blood:	n/a	n/a
18	BHLHE40	chr6:13988899-13989179	K562	blood:	n/a	n/a
19	BHLHE40	chr6:13979963-13980374	K562	blood:	n/a	n/a
20	BHLHE40	chr6:13989945-13990285	K562	blood:	n/a	n/a
21	BHLHE40	chr6:13987607-13988049	K562	blood:	n/a	n/a
22	BRCA1	chr6:13984783-13985329	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr6:13990831-13991367	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr6:13971117-13971997	K562	blood:	n/a	n/a
25	CBX3	chr6:13953212-13953760	HCT-116	colon:	n/a	n/a
26	CBX3	chr6:13947961-13948364	K562	blood:	n/a	n/a
27	CBX3	chr6:13973588-13974084	K562	blood:	n/a	n/a
28	CBX3	chr6:14001344-14002405	HCT-116	colon:	n/a	n/a
29	CBX3	chr6:13972631-13973352	K562	blood:	n/a	n/a
30	CBX3	chr6:13987275-13988164	K562	blood:	n/a	n/a
31	CBX3	chr6:13985923-13986353	K562	blood:	n/a	n/a
32	CBX3	chr6:13992707-13993361	K562	blood:	n/a	n/a
33	CBX3	chr6:13965772-13966233	K562	blood:	n/a	n/a
34	CBX3	chr6:13972668-13973087	K562	blood:	n/a	n/a
35	CBX3	chr6:13947976-13948384	K562	blood:	n/a	n/a
36	CBX3	chr6:13985646-13986412	K562	blood:	n/a	n/a
37	CBX3	chr6:13951409-13951711	K562	blood:	n/a	n/a
38	CBX3	chr6:13992770-13993393	HCT-116	colon:	n/a	n/a
39	CCNT2	chr6:13981375-13981398	K562	blood:	n/a	n/a
40	CCNT2	chr6:13992868-13993134	K562	blood:	n/a	n/a
41	CCNT2	chr6:13987395-13988135	K562	blood:	n/a	n/a
42	CCNT2	chr6:13980075-13980434	K562	blood:	n/a	n/a
43	CCNT2	chr6:13989835-13990265	K562	blood:	n/a	n/a
44	CEBPB	chr6:13979554-13980410	K562	blood:	n/a	n/a
45	CEBPB	chr6:13946059-13946123	K562	blood:	n/a	n/a
46	CEBPB	chr6:14009060-14009422	HepG2	liver:	n/a	chr6:14009236-14009247 chr6:14009236-14009249 chr6:14009238-14009247 chr6:14009238-14009249
47	CEBPB	chr6:13985061-13985479	K562	blood:	n/a	chr6:13985329-13985340 chr6:13985167-13985180
48	CEBPB	chr6:13992810-13993208	IMR90	lung:	n/a	chr6:13992999-13993010
49	CEBPB	chr6:13992828-13993194	A549	lung:	n/a	chr6:13992999-13993010
50	CEBPB	chr6:13992532-13993233	K562	blood:	n/a	chr6:13992999-13993010

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13989869-13989919	NHBE	bronchial:	n/a
2	chr6:13989869-13989919	NHBE	bronchial:	n/a
3	chr6:14002957-14003007	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:14004536-14004586	Caco-2	colon:	n/a
5	chr6:13977897-13977947	PFSK-1	brain:	n/a
6	chr6:13977167-13977217	GM12878	blood:	n/a
7	chr6:14002749-14002799	HMEC	breast:	n/a
8	chr6:14002749-14002799	AG04450	lung:	fetal
9	chr6:14002957-14003007	Hela-S3	cervix:	n/a
10	chr6:13977167-13977217	T-47D	breast:	n/a
11	chr6:13976724-13976774	PANC-1	pancreas:	n/a
12	chr6:13977167-13977217	Hepatocyte	liver:	n/a
13	chr6:13976724-13976774	AG09319	gingival:	n/a
14	chr6:13989869-13989919	ProgFib	skin:	n/a
15	chr6:13977897-13977947	SK-N-SH	brain:	n/a
16	chr6:13977167-13977217	NB4	blood:	n/a
17	chr6:13977897-13977947	GM12878	blood:	n/a
18	chr6:14004536-14004586	LNCaP	prostate:	n/a
19	chr6:14002957-14003007	HEEpiC	esophagus:	n/a
20	chr6:14002470-14002520	HCM	heart:	n/a
21	chr6:14004536-14004586	HCPEpiC	choroid plexus:	n/a
22	chr6:13977167-13977217	HCT-116	colon:	n/a
23	chr6:13954015-13954065	NHBE	bronchial:	n/a
24	chr6:13976724-13976774	H1-hESC	embryonic stem cell:	embryo
25	chr6:13977897-13977947	BE2_C	brain:	n/a
26	chr6:13989869-13989919	HCPEpiC	choroid plexus:	n/a
27	chr6:13977897-13977947	HPAEpiC	pulmonary alveolar:	n/a
28	chr6:14002470-14002520	ProgFib	skin:	n/a
29	chr6:13977251-13977301	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:14002470-14002520	GM06990	blood:	n/a
31	chr6:14001972-14002022	H1-hESC	embryonic stem cell:	embryo
32	chr6:13977167-13977217	HMEC	breast:	n/a
33	chr6:13954015-13954065	HCPEpiC	choroid plexus:	n/a
34	chr6:13954015-13954065	AG09319	gingival:	n/a
35	chr6:13954015-13954065	HPAEpiC	pulmonary alveolar:	n/a
36	chr6:13976724-13976774	SAEC	small airway:	n/a
37	chr6:14002749-14002799	SK-N-SH	brain:	n/a
38	chr6:13976724-13976774	A549	lung:	n/a
39	chr6:13977251-13977301	PrEC	prostate:	n/a
40	chr6:13976724-13976774	HEK293	kidney:	embryo
41	chr6:13954015-13954065	LNCaP	prostate:	n/a
42	chr6:13977167-13977217	NT2-D1	testis:	n/a
43	chr6:13954015-13954065	GM19239	blood:	n/a
44	chr6:14002957-14003007	SK-N-SH	brain:	n/a
45	chr6:13980019-13980069	SAEC	small airway:	n/a
46	chr6:14002957-14003007	HIPEpiC	eye:	n/a
47	chr6:13977897-13977947	SK-N-MC	brain:	n/a
48	chr6:14004536-14004586	HUVEC	blood vessel:	n/a
49	chr6:13954015-13954065	SKMC	muscle:	n/a
50	chr6:13977167-13977217	HCPEpiC	choroid plexus:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:13969727..13970299-chr6:14040161..14040805,2	MCF-7	breast:
2	chr6:13962764..13964970-chr6:13993734..13995990,2	K562	blood:
3	chr6:13978609..13980986-chr6:13998163..14000783,2	K562	blood:
4	chr6:13977833..13984327-chr6:13989586..13995822,10	K562	blood:
5	chr6:13991412..13996106-chr6:13996876..14000522,5	K562	blood:
6	chr6:13965986..13969195-chr6:13973944..13976258,3	K562	blood:
7	chr6:13813377..13816040-chr6:13987204..13989158,2	K562	blood:
8	chr6:13991753..13995333-chr6:13995809..14000536,6	K562	blood:
9	chr6:13981326..13983520-chr6:14085737..14087661,2	K562	blood:
10	chr6:13950649..13953184-chr6:13957049..13959860,2	K562	blood:
11	chr6:13952122..13954983-chr6:13967783..13969954,2	K562	blood:
12	chr6:13962649..13964679-chr6:13966068..13968343,2	MCF-7	breast:
13	chr6:13959150..13961074-chr6:13961630..13964396,2	K562	blood:
14	chr6:13914600..13916763-chr6:13985775..13988321,2	K562	blood:
15	chr6:13951684..13954071-chr6:13956388..13958549,2	K562	blood:
16	chr6:14002130..14003722-chr6:14005204..14007365,2	K562	blood:
17	chr6:13972986..13975375-chr6:13987073..13989773,2	K562	blood:
18	chr6:13995740..14002020-chr6:14004395..14009247,6	K562	blood:
19	chr6:13959143..13962507-chr6:13964795..13968342,4	K562	blood:
20	chr6:13959150..13961074-chr6:13961630..13964396,2	K562	blood:
21	chr6:13987468..13990820-chr6:14036587..14040374,4	K562	blood:
22	chr6:13987958..13989889-chr6:14001199..14003652,2	K562	blood:
23	chr6:13961816..13963986-chr6:13967761..13969421,2	K562	blood:
24	chr6:13961007..13964486-chr6:13964771..13967532,4	K562	blood:
25	chr6:13978505..13980656-chr6:14085933..14087508,2	K562	blood:
26	chr6:13962649..13964679-chr6:13966068..13968343,2	MCF-7	breast:
27	chr6:13922956..13925914-chr6:13977254..13980816,4	K562	blood:
28	chr6:13967695..13970261-chr6:13973944..13975577,2	K562	blood:
29	chr6:13989255..13991349-chr6:14665039..14667719,2	K562	blood:
30	chr6:13986435..13988140-chr6:14043142..14044804,2	K562	blood:
31	chr6:13967695..13970261-chr6:13973944..13975577,2	K562	blood:
32	chr6:13951684..13954071-chr6:13956388..13958549,2	K562	blood:
33	chr6:13918645..13920154-chr6:13977525..13979147,2	K562	blood:
34	chr6:13931349..13932971-chr6:13943405..13945672,2	K562	blood:
35	chr6:13947454..13950427-chr6:13960461..13962568,2	K562	blood:
36	chr6:13949755..13952670-chr6:13980268..13983137,3	K562	blood:
37	chr6:13943066..13946995-chr6:13951713..13954237,5	K562	blood:
38	chr6:13996360..13998289-chr6:14000864..14003564,4	K562	blood:
39	chr6:13950649..13953184-chr6:13957049..13959860,2	K562	blood:
40	chr6:13943312..13945231-chr6:13948463..13950925,3	K562	blood:
41	chr6:13991412..13996106-chr6:13996876..14000522,5	K562	blood:
42	chr6:14008164..14010446-chr6:14020010..14022121,2	K562	blood:
43	chr6:13972986..13975375-chr6:13987073..13989773,2	K562	blood:
44	chr6:13990415..13992170-chr6:13995596..13998101,2	MCF-7	breast:
45	chr6:13959143..13962507-chr6:13964795..13968342,4	K562	blood:
46	chr6:13965986..13969195-chr6:13973944..13976258,3	K562	blood:
47	chr3:64815871..64816503-chr6:13954796..13955296,2	MCF-7	breast:
48	chr6:13931778..13934461-chr6:13976402..13978404,2	K562	blood:
49	chr6:13982733..13984874-chr6:13988019..13991751,3	MCF-7	breast:
50	chr6:13935540..13940226-chr6:13942061..13946156,6	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF182-2	chr6:13994594-13994641	NONHSAT107820
2	lnc-RNF182-1	chr6:14005151-14005211	XLOC_005178
3	lnc-RNF182-1	chr6:14005288-14005890	FPKM1_group_27162_transcript_1
4	lnc-CD83-9	chr6:13949326-13949897	NONHSAT107817
5	lnc-RNF182-1	chr6:14006808-14007132	XLOC_005178
6	lnc-RNF182-1	chr6:14005150-14005211	FPKM1_group_27162_transcript_1
7	lnc-RNF182-1	chr6:14005150-14005211	NONHSAT107821
8	lnc-RNF182-2	chr6:13992427-13992760	NONHSAT107820
9	lnc-RNF182-1	chr6:14006530-14007132	NONHSAT107821

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RNF182	hsa-miR-27a-3p	chr6:13980177-13980197
2	RNF182	hsa-miR-27a-3p	chr6:13980190-13980196
3	RNF182	hsa-miR-128-3p	chr6:13980176-13980196
4	RNF182	hsa-miR-128-3p	chr6:13980189-13980196

Variant related genes	Relation type
ENSG00000233981	TF binding region
MRPL35P1	TF binding region
ENSG00000233981	CpG island
MRPL35P1	CpG island
ENSG00000233981	chromatin interactions
ENSG00000220868	chromatin interactions
ENSG00000007944	chromatin interactions
ENSG00000180537	chromatin interactions
ENSG00000226253	chromatin interactions
ENSG00000050393	chromatin interactions

Extended variants
information (count: 2476 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2476 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs280153	chr6:13945067-13945068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569117501	chr6:13945074-13945075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188544727	chr6:13945171-13945172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10553158	chr6:13945188-13945189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138999703	chr6:13945197-13945198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571314496	chr6:13945215-13945216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192010909	chr6:13945216-13945217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183506185	chr6:13945222-13945223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573419224	chr6:13945262-13945263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149884145	chr6:13945278-13945279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145042682	chr6:13945351-13945352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555770883	chr6:13945355-13945356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369358210	chr6:13945387-13945388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545416160	chr6:13945394-13945395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537051428	chr6:13945434-13945435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187888255	chr6:13945458-13945459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572499143	chr6:13945475-13945476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs67315521	chr6:13945508-13945509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561330602	chr6:13945510-13945511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545171601	chr6:13945511-13945512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115193856	chr6:13945513-13945514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372861511	chr6:13945553-13945554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201126523	chr6:13945577-13945578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191585464	chr6:13945596-13945597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536171553	chr6:13945623-13945624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563574075	chr6:13945635-13945636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532548749	chr6:13945655-13945656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551341259	chr6:13945683-13945684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183643262	chr6:13945723-13945724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199635484	chr6:13945821-13945822	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs577976355	chr6:13945844-13945845	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs547226656	chr6:13945902-13945903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537328974	chr6:13945907-13945908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567003782	chr6:13945915-13945916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535985473	chr6:13945943-13945944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572625130	chr6:13945952-13945953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564820148	chr6:13945955-13945956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534861199	chr6:13945973-13945974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112459138	chr6:13946040-13946041	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs577758035	chr6:13946078-13946079	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs187192888	chr6:13946085-13946086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs280154	chr6:13946112-13946113	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573878195	chr6:13946153-13946154	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs76078068	chr6:13946216-13946217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373806544	chr6:13946226-13946227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201129155	chr6:13946268-13946269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79552329	chr6:13946346-13946347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553214154	chr6:13946350-13946351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78057130	chr6:13946355-13946356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10525203	chr6:13946371-13946372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13943000-13949400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:13943600-13945600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:13944000-13945400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:13944600-13945400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:13944800-13946600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:13945400-13947000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:13945800-13952600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:13946600-13947000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr6:13946800-13947200	Enhancers	NHDF-Ad	bronchial
10	chr6:13946800-13947400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:13946800-13947600	Enhancers	Hela-S3	cervix
12	chr6:13947000-13947600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr6:13947000-13947800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:13947200-13952200	Weak transcription	NHDF-Ad	bronchial
15	chr6:13947400-13948000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:13947600-13952200	Weak transcription	Hela-S3	cervix
17	chr6:13947800-13952600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:13949400-13949600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:13949600-13952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:13949800-13952600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:13951000-13952800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:13951800-13952400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr6:13952200-13952600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:13952200-13952800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:13952200-13953200	Enhancers	NHLF	lung
26	chr6:13952200-13954000	Enhancers	Hela-S3	cervix
27	chr6:13952200-13954200	Enhancers	NHDF-Ad	bronchial
28	chr6:13952400-13955000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:13952600-13952800	Enhancers	A549	lung
30	chr6:13952600-13953400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:13952600-13953400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:13952600-13953800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:13952600-13954000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:13952600-13954200	Enhancers	HMEC	breast
35	chr6:13952600-13954200	Enhancers	NHEK	skin
36	chr6:13952800-13953200	Flanking Active TSS	A549	lung
37	chr6:13952800-13953400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:13952800-13954200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:13952800-13954400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:13952800-13954600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:13953000-13953800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:13953000-13954200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:13953000-13954200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:13953200-13953600	Weak transcription	NHLF	lung
45	chr6:13953200-13953800	Enhancers	A549	lung
46	chr6:13953200-13954000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr6:13953200-13955200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:13953400-13953600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:13953400-13954200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:13953400-13954200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links