Variant report

Variant	nsv883414
Chromosome Location	chr6:4491515-4518250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:61)
Chromatin interactive
region (count:26)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr6:4503979-4504320	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr6:4516484-4516722	K562	blood:	n/a	n/a
3	CEBPB	chr6:4504007-4504284	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr6:4505034-4505311	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr6:4496505-4496857	MCF-7	breast:	n/a	n/a
6	CEBPB	chr6:4505027-4505262	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr6:4502036-4502108	IMR90	lung:	n/a	n/a
8	CHD2	chr6:4503951-4504343	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr6:4492100-4492250	HMEC	breast:	n/a	n/a
10	CTCF	chr6:4509832-4510135	K562	blood:	n/a	n/a
11	CTCF	chr6:4509900-4510050	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr6:4517340-4517490	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:4492134-4492200	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:4510004-4510012	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:4509860-4510010	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr6:4517220-4517370	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr6:4517280-4517430	HMEC	breast:	n/a	n/a
18	CTCF	chr6:4509940-4510090	HepG2	liver:	n/a	n/a
19	CTCF	chr6:4517320-4517470	HPF	lung:	n/a	n/a
20	CTCF	chr6:4492110-4492192	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:4492090-4492133	Fibrobl	skin:	n/a	n/a
22	CTCF	chr6:4492114-4492196	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:4492080-4492206	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:4492080-4492230	HEK293	kidney:	n/a	n/a
25	CTCF	chr6:4509920-4510070	K562	blood:	n/a	n/a
26	CTCF	chr6:4509833-4510100	K562	blood:	n/a	n/a
27	CTCF	chr6:4513820-4513970	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr6:4509960-4510110	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr6:4517320-4517470	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr6:4509858-4510134	K562	blood:	n/a	n/a
31	CTCF	chr6:4509960-4510110	GM12872	blood:	n/a	n/a
32	CTCF	chr6:4492109-4492160	NHEK	skin:	n/a	n/a
33	CTCF	chr6:4509960-4510110	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr6:4512740-4512890	GM12866	blood:	n/a	n/a
35	CTCF	chr6:4492060-4492210	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:4509981-4510026	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr6:4509954-4510027	GM12878	blood:	n/a	n/a
38	CTCF	chr6:4509920-4510070	GM12864	blood:	n/a	n/a
39	CTCF	chr6:4517340-4517490	HCT-116	colon:	n/a	n/a
40	CTCF	chr6:4509909-4510070	K562	blood:	n/a	n/a
41	E2F4	chr6:4504431-4504608	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F6	chr6:4503751-4504399	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr6:4503835-4504330	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr6:4504023-4504350	H1-hESC	embryonic stem cell:	n/a	n/a
45	EP300	chr6:4509970-4510033	K562	blood:	n/a	n/a
46	EP300	chr6:4505097-4505256	K562	blood:	n/a	n/a
47	EP300	chr6:4503960-4504359	H1-hESC	embryonic stem cell:	n/a	n/a
48	EP300	chr6:4505031-4505266	Hela-S3	cervix:	n/a	n/a
49	FAM48A	chr6:4499594-4499728	GM12878	blood:	n/a	n/a
50	FOS	chr6:4492157-4492492	HUVEC	blood vessel:	n/a	chr6:4492297-4492308

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:4504273-4504323	U87	brain:	n/a
2	chr6:4504273-4504323	SK-N-SH_RA	brain:	n/a
3	chr6:4504273-4504323	HRE	kidney:	n/a
4	chr6:4504273-4504323	MCF-7	breast:	n/a
5	chr6:4504273-4504323	SK-N-MC	brain:	n/a
6	chr6:4504273-4504323	HCF	heart:	n/a
7	chr6:4504273-4504323	HAEpiC	amniotic membrane:	n/a
8	chr6:4504273-4504323	SKMC	muscle:	n/a
9	chr6:4504273-4504323	NT2-D1	testis:	n/a
10	chr6:4504273-4504323	AG09319	gingival:	n/a
11	chr6:4504273-4504323	SK-N-SH	brain:	n/a
12	chr6:4504273-4504323	GM06990	blood:	n/a
13	chr6:4504273-4504323	GM12892	blood:	n/a
14	chr6:4504273-4504323	CMK	blood:	n/a
15	chr6:4504273-4504323	HNPCEpiC	eye:	n/a
16	chr6:4504273-4504323	NHDF-neo	bronchial:	n/a
17	chr6:4504273-4504323	ECC-1	luminal epithelium:	n/a
18	chr6:4504273-4504323	HEK293	kidney:	embryo
19	chr6:4504273-4504323	HL-60	blood:	n/a
20	chr6:4504273-4504323	AoSMC	blood vessel:	n/a
21	chr6:4504273-4504323	NHBE	bronchial:	n/a
22	chr6:4504273-4504323	Jurkat	blood:	n/a
23	chr6:4504273-4504323	HUVEC	blood vessel:	n/a
24	chr6:4504273-4504323	GM12878	blood:	n/a
25	chr6:4504273-4504323	AG04449	skin:	fetal
26	chr6:4504273-4504323	A549	lung:	n/a
27	chr6:4504273-4504323	HRCEpiC	kidney:	n/a
28	chr6:4504273-4504323	HEEpiC	esophagus:	n/a
29	chr6:4504273-4504323	HCPEpiC	choroid plexus:	n/a
30	chr6:4504273-4504323	HCT-116	colon:	n/a
31	chr6:4504273-4504323	HCM	heart:	n/a
32	chr6:4504273-4504323	AG04450	lung:	fetal
33	chr6:4504273-4504323	SAEC	small airway:	n/a
34	chr6:4504273-4504323	Hepatocyte	liver:	n/a
35	chr6:4504273-4504323	T-47D	breast:	n/a
36	chr6:4504273-4504323	AG09309	skin:	n/a
37	chr6:4504273-4504323	BJ	skin:	n/a
38	chr6:4504273-4504323	HRPEpiC	eye:	n/a
39	chr6:4504273-4504323	HIPEpiC	eye:	n/a
40	chr6:4504273-4504323	Hela-S3	cervix:	n/a
41	chr6:4504273-4504323	ovcar-3	ovarian:	n/a
42	chr6:4504273-4504323	GM19239	blood:	n/a
43	chr6:4504273-4504323	BE2_C	brain:	n/a
44	chr6:4504273-4504323	NH-A	brain:	n/a
45	chr6:4504273-4504323	IMR90	lung:	fetal
46	chr6:4504273-4504323	LNCaP	prostate:	n/a
47	chr6:4504273-4504323	HepG2	liver:	n/a
48	chr6:4504273-4504323	PFSK-1	brain:	n/a
49	chr6:4504273-4504323	HPAEpiC	pulmonary alveolar:	n/a
50	chr6:4504273-4504323	H1-hESC	embryonic stem cell:	embryo

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4490287..4491939-chr6:4601250..4603632,2	MCF-7	breast:
2	chr6:4515357..4517469-chr6:4523279..4525326,2	K562	blood:
3	chr6:4488735..4490606-chr6:4493086..4495998,2	MCF-7	breast:
4	chr6:4489721..4491825-chr6:4493437..4495768,2	MCF-7	breast:
5	chr6:4495649..4497991-chr6:4500264..4503744,3	MCF-7	breast:
6	chr6:4493861..4495559-chr6:4495839..4497666,2	MCF-7	breast:
7	chr6:4488176..4491651-chr6:4775983..4779929,5	MCF-7	breast:
8	chr6:4512968..4515145-chr6:4517731..4519353,2	K562	blood:
9	chr6:4490764..4493253-chr6:4501341..4503648,2	K562	blood:
10	chr6:4510316..4512322-chr6:4518420..4520155,2	MCF-7	breast:
11	chr6:4513834..4516076-chr6:4516408..4519317,2	MCF-7	breast:
12	chr6:4500851..4502554-chr6:4504485..4506136,2	MCF-7	breast:
13	chr6:4489721..4491825-chr6:4493437..4495768,2	MCF-7	breast:
14	chr6:4512446..4515936-chr6:4516178..4519231,3	K562	blood:
15	chr6:4513834..4516076-chr6:4516408..4519317,2	MCF-7	breast:
16	chr6:4516447..4519219-chr6:4774019..4776192,2	MCF-7	breast:
17	chr6:4511326..4512980-chr6:4514957..4517547,2	MCF-7	breast:
18	chr6:4491753..4493868-chr6:4501405..4503648,2	K562	blood:
19	chr6:4504917..4506425-chr6:4776008..4778518,2	MCF-7	breast:
20	chr6:4511326..4512980-chr6:4514957..4517547,2	MCF-7	breast:
21	chr6:4493861..4495559-chr6:4495839..4497666,2	MCF-7	breast:
22	chr6:4512968..4515145-chr6:4517731..4519353,2	K562	blood:
23	chr6:4512446..4515936-chr6:4516178..4519231,3	K562	blood:
24	chr6:4495649..4497991-chr6:4500264..4503744,3	MCF-7	breast:
25	chr6:4510973..4512545-chr6:4553397..4556208,2	K562	blood:
26	chr6:4500851..4502554-chr6:4504485..4506136,2	MCF-7	breast:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ECI2-9	chr6:4493430-4493541	NONHSAT107438
2	lnc-ECI2-9	chr6:4495525-4495776	NONHSAT107438
3	lnc-CDYL-2	chr6:4492041-4492424	NONHSAT107439
4	lnc-ECI2-9	chr6:4493033-4493323	NONHSAT107438
5	lnc-CDYL-18	chr6:4498633-4498752	NONHSAT107441
6	lnc-ECI2-9	chr6:4496045-4496342	NONHSAT107438
7	lnc-CDYL-18	chr6:4498887-4498986	NONHSAT107441
8	lnc-ECI2-9	chr6:4494051-4494083	NONHSAT107438
9	lnc-ECI2-9	chr6:4494705-4494779	NONHSAT107438
10	lnc-CDYL-2	chr6:4492041-4492424	ENSG00000260239.1
11	lnc-ECI2-9	chr6:4497049-4497132	NONHSAT107438
12	lnc-ECI2-9	chr6:4493812-4493933	NONHSAT107438
13	lnc-ECI2-9	chr6:4496615-4496793	NONHSAT107438
14	lnc-ECI2-9	chr6:4495144-4495228	NONHSAT107438
15	lnc-ECI2-9	chr6:4493621-4493716	NONHSAT107438
16	lnc-ECI2-9	chr6:4494994-4495062	NONHSAT107438
17	lnc-ECI2-9	chr6:4498887-4499416	NONHSAT107438
18	lnc-CDYL-18	chr6:4500610-4500803	NONHSAT107441
19	lnc-CDYL-18	chr6:4499713-4499808	NONHSAT107441
20	lnc-CDYL-2	chr6:4494116-4495989	XLOC_005141
21	lnc-CDYL-2	chr6:4494116-4494637	NONHSAT107439
22	lnc-ECI2-9	chr6:4496431-4496481	NONHSAT107438
23	lnc-CDYL-2	chr6:4494730-4496003	NONHSAT107439
24	lnc-CDYL-2	chr6:4494116-4496003	ENSG00000260239.1
25	lnc-ECI2-9	chr6:4495336-4495439	NONHSAT107438
26	lnc-CDYL-18	chr6:4503795-4503987	NONHSAT107441
27	lnc-ECI2-9	chr6:4491674-4492333	NONHSAT107438
28	lnc-ECI2-9	chr6:4492447-4492561	NONHSAT107438

No data

Variant related genes	Relation type
ENSG00000260239	TF binding region
ENSG00000260239	CpG island
ENSG00000236336	chromatin interactions
ENSG00000260673	chromatin interactions
ENSG00000260239	chromatin interactions
ENSG00000153046	chromatin interactions

Extended variants
information (count: 1055 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1055 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1265248	chr6:4491515-4491516	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531935272	chr6:4491525-4491526	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533840046	chr6:4491554-4491555	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548729620	chr6:4491590-4491591	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568570635	chr6:4491606-4491607	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs181449118	chr6:4491607-4491608	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114018816	chr6:4491645-4491646	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs570843098	chr6:4491648-4491649	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs145984990	chr6:4491659-4491660	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186339354	chr6:4491662-4491663	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577103705	chr6:4491677-4491678	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs576251210	chr6:4491708-4491709	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs139917494	chr6:4491850-4491851	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs555489055	chr6:4491919-4491920	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs572191399	chr6:4491949-4491950	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs540713241	chr6:4491961-4491962	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs563874768	chr6:4491993-4491994	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs546068300	chr6:4492014-4492015	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs116408236	chr6:4492029-4492030	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs542989037	chr6:4492057-4492058	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs563153656	chr6:4492066-4492067	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs143420866	chr6:4492067-4492068	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs4959299	chr6:4492079-4492080	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs568637134	chr6:4492104-4492105	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527920941	chr6:4492150-4492151	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs547889000	chr6:4492151-4492152	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs370541873	chr6:4492155-4492156	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs545567240	chr6:4492156-4492157	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs570930419	chr6:4492170-4492171	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs539955167	chr6:4492195-4492196	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs151164717	chr6:4492200-4492201	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs189175773	chr6:4492249-4492250	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs181068841	chr6:4492258-4492259	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs555413035	chr6:4492266-4492267	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs572192505	chr6:4492321-4492322	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs540856782	chr6:4492392-4492393	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs116191411	chr6:4492398-4492399	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs140221675	chr6:4492428-4492429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111489749	chr6:4492496-4492497	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs530974731	chr6:4492499-4492500	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs369050027	chr6:4492503-4492504	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs562952364	chr6:4492506-4492507	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs70974104	chr6:4492518-4492519	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs539639677	chr6:4492524-4492525	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs543124021	chr6:4492570-4492571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373613007	chr6:4492593-4492594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576318672	chr6:4492594-4492595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528929631	chr6:4492599-4492600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542500732	chr6:4492643-4492644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185907217	chr6:4492652-4492653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4490000-4492400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:4490400-4492600	Enhancers	Placenta	Placenta
3	chr6:4491000-4492000	Weak transcription	Esophagus	oesophagus
4	chr6:4491600-4492400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:4491600-4492600	Enhancers	NHEK	skin
6	chr6:4491800-4492400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:4491800-4492400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:4491800-4492400	Enhancers	HSMMtube	muscle
9	chr6:4492000-4492400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:4492000-4492400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:4492000-4492400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:4492000-4492400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:4492000-4492400	Enhancers	Brain Anterior Caudate	brain
14	chr6:4492000-4492400	Enhancers	Esophagus	oesophagus
15	chr6:4492000-4492400	Enhancers	HMEC	breast
16	chr6:4492000-4492400	Enhancers	HSMM	muscle
17	chr6:4492400-4492800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:4492400-4493400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:4492400-4495000	Weak transcription	Esophagus	oesophagus
20	chr6:4492400-4496600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:4492400-4496600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:4492400-4496600	Weak transcription	HMEC	breast
23	chr6:4492600-4495000	Weak transcription	Placenta	Placenta
24	chr6:4492600-4496600	Weak transcription	NHEK	skin
25	chr6:4492800-4494000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:4493600-4494000	Enhancers	Stomach Mucosa	stomach
27	chr6:4495000-4495800	Enhancers	Esophagus	oesophagus
28	chr6:4495000-4497600	Enhancers	Placenta	Placenta
29	chr6:4496600-4497000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:4496600-4497000	Enhancers	NHEK	skin
31	chr6:4496600-4497200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr6:4496600-4497200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:4496600-4497200	Enhancers	HMEC	breast
34	chr6:4497200-4502000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:4497600-4498000	Weak transcription	Placenta	Placenta
36	chr6:4498000-4498600	Enhancers	Placenta	Placenta
37	chr6:4499800-4500400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:4500400-4506600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:4502600-4505400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr6:4502800-4504000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:4502800-4505200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:4502800-4505400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:4503000-4503200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:4503000-4503200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:4503000-4503600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:4503000-4503800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:4503200-4504000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:4503200-4505200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:4503200-4505800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:4503200-4506600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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