Variant report

Variant	nsv1010046
Chromosome Location	chr1:120112043-120149517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:120125462-120125747	K562	blood:	n/a	n/a
2	BRCA1	chr1:120125543-120125709	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr1:120112658-120112932	K562	blood:	n/a	chr1:120112801-120112814
4	CEBPB	chr1:120144744-120145076	A549	lung:	n/a	chr1:120144889-120144900
5	CEBPB	chr1:120144741-120145077	HepG2	liver:	n/a	chr1:120144889-120144900
6	CEBPB	chr1:120144888-120144965	H1-hESC	embryonic stem cell:	n/a	chr1:120144889-120144900
7	CEBPB	chr1:120142586-120142702	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr1:120123093-120123321	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:120112719-120112961	K562	blood:	n/a	chr1:120112801-120112814
10	CEBPB	chr1:120144827-120145081	Hela-S3	cervix:	n/a	chr1:120144889-120144900
11	CTCF	chr1:120125490-120125755	Gliobla	brain:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
12	CTCF	chr1:120125540-120125690	HVMF	connective:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
13	CTCF	chr1:120112920-120113070	GM12873	blood:	n/a	n/a
14	CTCF	chr1:120112965-120113174	LNCaP	prostate:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
15	CTCF	chr1:120123419-120123501	Gliobla	brain:	n/a	n/a
16	CTCF	chr1:120112970-120113184	GM10248	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
17	CTCF	chr1:120112945-120113147	GM20000	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
18	CTCF	chr1:120125508-120125722	MCF-7	breast:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
19	CTCF	chr1:120125540-120125690	RPTEC	kidney:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
20	CTCF	chr1:120125548-120125725	H1-hESC	embryonic stem cell:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
21	CTCF	chr1:120112940-120113090	GM12875	blood:	n/a	n/a
22	CTCF	chr1:120125488-120125733	LNCaP	prostate:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
23	CTCF	chr1:120125540-120125690	GM12878	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
24	CTCF	chr1:120125540-120125690	BJ	skin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
25	CTCF	chr1:120112900-120113050	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr1:120125580-120125730	HFF-Myc	foreskin:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
27	CTCF	chr1:120112920-120113070	HVMF	connective:	n/a	n/a
28	CTCF	chr1:120125520-120125670	HCT-116	colon:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
29	CTCF	chr1:120125529-120125716	Lung_OC	lung:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
30	CTCF	chr1:120125560-120125710	BE2_C	brain:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
31	CTCF	chr1:120125520-120125670	GM12867	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
32	CTCF	chr1:120125494-120125789	ECC-1	luminal epithelium:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
33	CTCF	chr1:120112935-120113215	Hela-S3	cervix:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
34	CTCF	chr1:120125492-120125745	MCF-7	breast:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
35	CTCF	chr1:120130436-120130484	GM13976	blood:	n/a	n/a
36	CTCF	chr1:120125520-120125670	HepG2	liver:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
37	CTCF	chr1:120112920-120113070	HCT-116	colon:	n/a	n/a
38	CTCF	chr1:120112880-120113030	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr1:120125547-120125719	GM12891	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
40	CTCF	chr1:120112951-120113216	Gliobla	brain:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
41	CTCF	chr1:120125560-120125710	HEK293	kidney:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
42	CTCF	chr1:120125500-120125650	NHDF-neo	bronchial:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
43	CTCF	chr1:120125540-120125690	HPAF	blood vessel:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
44	CTCF	chr1:120125500-120125650	GM12867	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
45	CTCF	chr1:120125443-120125730	HepG2	liver:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
46	CTCF	chr1:120125520-120125670	GM12872	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
47	CTCF	chr1:120113012-120113216	K562	blood:	n/a	chr1:120113079-120113092 chr1:120113077-120113093 chr1:120113076-120113094 chr1:120113078-120113099
48	CTCF	chr1:120125520-120125670	GM12801	blood:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
49	CTCF	chr1:120125560-120125710	Hela-S3	cervix:	n/a	chr1:120125618-120125631 chr1:120125615-120125633 chr1:120125617-120125638
50	CTCF	chr1:120112900-120113050	HCPEpiC	choroid plexus:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120143242-120143292	Caco-2	colon:	n/a
2	chr1:120143242-120143292	Caco-2	colon:	n/a
3	chr1:120143242-120143292	AoSMC	blood vessel:	n/a
4	chr1:120143242-120143292	H1-hESC	embryonic stem cell:	embryo
5	chr1:120143242-120143292	SK-N-SH	brain:	n/a
6	chr1:120143242-120143292	GM06990	blood:	n/a
7	chr1:120143242-120143292	HNPCEpiC	eye:	n/a
8	chr1:120143242-120143292	Jurkat	blood:	n/a
9	chr1:120143242-120143292	HIPEpiC	eye:	n/a
10	chr1:120143242-120143292	K562	blood:	n/a
11	chr1:120143242-120143292	LNCaP	prostate:	n/a
12	chr1:120143242-120143292	ovcar-3	ovarian:	n/a
13	chr1:120143242-120143292	HepG2	liver:	n/a
14	chr1:120143242-120143292	SAEC	small airway:	n/a
15	chr1:120143242-120143292	NHBE	bronchial:	n/a
16	chr1:120143242-120143292	HCF	heart:	n/a
17	chr1:120143242-120143292	AG04449	skin:	fetal
18	chr1:120143242-120143292	CMK	blood:	n/a
19	chr1:120143242-120143292	MCF-7	breast:	n/a
20	chr1:120143242-120143292	SK-N-SH_RA	brain:	n/a
21	chr1:120143242-120143292	HCPEpiC	choroid plexus:	n/a
22	chr1:120143242-120143292	GM12891	blood:	n/a
23	chr1:120143242-120143292	T-47D	breast:	n/a
24	chr1:120143242-120143292	HRE	kidney:	n/a
25	chr1:120143242-120143292	HCM	heart:	n/a
26	chr1:120143242-120143292	SKMC	muscle:	n/a
27	chr1:120143242-120143292	GM19239	blood:	n/a
28	chr1:120143242-120143292	AG10803	skin:	n/a
29	chr1:120143242-120143292	U87	brain:	n/a
30	chr1:120143242-120143292	NT2-D1	testis:	n/a
31	chr1:120143242-120143292	AG04450	lung:	fetal
32	chr1:120143242-120143292	ProgFib	skin:	n/a
33	chr1:120143242-120143292	Hepatocyte	liver:	n/a
34	chr1:120143242-120143292	BE2_C	brain:	n/a
35	chr1:120143242-120143292	NB4	blood:	n/a
36	chr1:120143242-120143292	NHDF-neo	bronchial:	n/a
37	chr1:120143242-120143292	HL-60	blood:	n/a
38	chr1:120143242-120143292	AG09309	skin:	n/a
39	chr1:120143242-120143292	HMEC	breast:	n/a
40	chr1:120143242-120143292	HEEpiC	esophagus:	n/a
41	chr1:120143242-120143292	PFSK-1	brain:	n/a
42	chr1:120143242-120143292	PrEC	prostate:	n/a
43	chr1:120143242-120143292	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:120143242-120143292	HRCEpiC	kidney:	n/a
45	chr1:120143242-120143292	HRPEpiC	eye:	n/a
46	chr1:120143242-120143292	GM12878	blood:	n/a
47	chr1:120143242-120143292	HUVEC	blood vessel:	n/a
48	chr1:120143242-120143292	NH-A	brain:	n/a
49	chr1:120143242-120143292	BJ	skin:	n/a
50	chr1:120143242-120143292	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:120125219..120126121-chr1:120153919..120154547,2	MCF-7	breast:
2	chr1:120145059..120147660-chr1:120162749..120165475,2	MCF-7	breast:
3	chr1:120125200..120126107-chr1:120217588..120218409,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHGDH-1	chr1:120143780-120144107	ENSG00000242959.1
2	lnc-ZNF697-1	chr1:120140325-120141914	NONHSAT005570
3	lnc-PHGDH-1	chr1:120144910-120145118	ENSG00000242959.1
4	lnc-ZNF697-3	chr1:120148999-120149695	NONHSAT005569
5	lnc-ZNF697-1	chr1:120140325-120141894	ENSG00000260941.1

Variant related genes	Relation type
HSD3BP4	TF binding region
LINC00622	TF binding region
GAPDHP33	TF binding region
HSD3BP5	TF binding region
HSD3BP4	CpG island
LINC00622	CpG island
GAPDHP33	CpG island
HSD3BP5	CpG island

Extended variants
information (count: 1636 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1636 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185258465	chr1:120112047-120112048	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188918805	chr1:120112091-120112092	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192448742	chr1:120112101-120112102	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs185099511	chr1:120112123-120112124	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs587735276	chr1:120112164-120112165	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs587628761	chr1:120112223-120112224	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs1812822	chr1:120112259-120112260	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs587766381	chr1:120112349-120112350	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs587639603	chr1:120112366-120112367	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188245725	chr1:120112398-120112399	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs587728355	chr1:120112401-120112402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs587628150	chr1:120112405-120112406	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs180906398	chr1:120112435-120112436	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs71577110	chr1:120112457-120112458	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs367882004	chr1:120112458-120112459	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs587765435	chr1:120112463-120112464	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs587640791	chr1:120112503-120112504	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs587693954	chr1:120112507-120112508	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs12404802	chr1:120112511-120112512	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs140295252	chr1:120112513-120112514	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs55863119	chr1:120112514-120112515	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs75578437	chr1:120112515-120112516	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs78441028	chr1:120112516-120112517	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141767868	chr1:120112517-120112518	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs12405948	chr1:120112519-120112520	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs370632185	chr1:120112522-120112523	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs12404812	chr1:120112526-120112527	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs12404813	chr1:120112533-120112534	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs7538275	chr1:120112541-120112542	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs12130362	chr1:120112542-120112543	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375955622	chr1:120112545-120112546	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs142830746	chr1:120112549-120112550	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs369016700	chr1:120112550-120112551	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs201335393	chr1:120112554-120112555	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs7538278	chr1:120112557-120112558	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs199593989	chr1:120112558-120112559	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200422794	chr1:120112562-120112563	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376093819	chr1:120112565-120112566	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs6143399	chr1:120112566-120112567	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs59122132	chr1:120112569-120112570	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs10923863	chr1:120112570-120112571	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs55838634	chr1:120112572-120112573	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs56060873	chr1:120112573-120112574	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs140582926	chr1:120112574-120112575	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs76266452	chr1:120112578-120112579	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs201749507	chr1:120112584-120112585	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs369705982	chr1:120112585-120112586	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs12405951	chr1:120112587-120112588	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs4426020	chr1:120112597-120112598	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs76080747	chr1:120112612-120112613	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Cancer	21272361	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120092800-120116600	Weak transcription	Spleen	Spleen
2	chr1:120106800-120112400	Enhancers	Placenta	Placenta
3	chr1:120109600-120117200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:120110400-120112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:120111000-120112400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:120111000-120112400	Enhancers	Fetal Thymus	thymus
7	chr1:120111000-120112800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:120111200-120112400	Enhancers	Primary B cells from cord blood	blood
9	chr1:120111200-120112600	Enhancers	Fetal Lung	lung
10	chr1:120111400-120112200	Enhancers	Adipose Nuclei	Adipose
11	chr1:120111400-120112200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:120111400-120112400	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:120111400-120112400	Enhancers	GM12878-XiMat	blood
14	chr1:120111400-120112800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr1:120111600-120112200	Enhancers	Fetal Muscle Leg	muscle
16	chr1:120111600-120112400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:120111600-120112400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:120111800-120129800	Weak transcription	Left Ventricle	heart
19	chr1:120112000-120112600	Enhancers	HUVEC	blood vessel
20	chr1:120112000-120114000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:120112000-120116400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:120112000-120129600	Weak transcription	Right Atrium	heart
23	chr1:120112400-120112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:120112400-120115400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:120112400-120116600	Weak transcription	Placenta	Placenta
26	chr1:120112800-120113800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:120112800-120113800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr1:120112800-120116600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:120113800-120115600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:120113800-120116200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:120114000-120115200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:120115200-120117400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:120115200-120160800	Weak transcription	Gastric	stomach
34	chr1:120115400-120115600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:120115600-120116000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:120115600-120117200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:120116000-120117200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:120116200-120117400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:120116400-120117000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:120116600-120117000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:120116600-120117000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:120116600-120117000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:120116600-120117000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:120116600-120117000	Enhancers	Placenta	Placenta
45	chr1:120116600-120117000	Enhancers	Spleen	Spleen
46	chr1:120116600-120117200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:120116600-120117200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:120116600-120117200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:120116800-120117000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:120117000-120128200	Weak transcription	Placenta	Placenta

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