Variant report

Variant	nsv946302
Chromosome Location	chr1:146649853-146651055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:184)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:146649800-146649950	HEK293	kidney:	n/a	n/a
2	CTCF	chr1:146650420-146650570	HepG2	liver:	n/a	n/a
3	CTCF	chr1:146649760-146649990	BE2_C	brain:	n/a	n/a
4	CTCF	chr1:146649740-146649890	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr1:146649740-146649890	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr1:146649740-146649890	AG09319	gingival:	n/a	n/a
7	CTCF	chr1:146649652-146649878	MCF-7	breast:	n/a	n/a
8	CTCF	chr1:146649804-146649908	MCF-7	breast:	n/a	n/a
9	CTCF	chr1:146649740-146649890	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr1:146649780-146649930	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr1:146650483-146650597	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:146650380-146650530	HMF	breast:	n/a	n/a
13	CTCF	chr1:146649800-146649950	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr1:146649760-146649910	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr1:146649720-146649870	AG09319	gingival:	n/a	n/a
16	CTCF	chr1:146649740-146649890	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr1:146650465-146650576	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr1:146650526-146650575	MCF-7	breast:	n/a	n/a
19	CTCF	chr1:146650526-146650636	ProgFib	skin:	n/a	n/a
20	CTCF	chr1:146650420-146650570	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:146650400-146650550	AG10803	skin:	n/a	n/a
22	CTCF	chr1:146649800-146649950	NHEK	skin:	n/a	n/a
23	CTCF	chr1:146649792-146649861	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:146649780-146649930	AG04450	lung:	n/a	n/a
25	CTCF	chr1:146649720-146649870	BJ	skin:	n/a	n/a
26	CTCF	chr1:146649860-146650010	HAc	cerebellar:	n/a	n/a
27	CTCF	chr1:146649680-146649878	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:146649740-146649890	MCF-7	breast:	n/a	n/a
29	CTCF	chr1:146649800-146649950	AG10803	skin:	n/a	n/a
30	CTCF	chr1:146649740-146649890	AG10803	skin:	n/a	n/a
31	CTCF	chr1:146650380-146650530	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr1:146649740-146649890	HMF	breast:	n/a	n/a
33	CTCF	chr1:146649740-146649890	HPF	lung:	n/a	n/a
34	CTCF	chr1:146649780-146649930	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr1:146649675-146649860	MCF-7	breast:	n/a	n/a
36	HEY1	chr1:146649706-146649911	K562	blood:	n/a	n/a
37	MAX	chr1:146649596-146649939	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr1:146649446-146649988	MCF-7	breast:	n/a	n/a
39	MYC	chr1:146649590-146649881	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:146650907-146651074	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:146650666-146650795	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr1:146649696-146649892	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:146649757-146649857	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:146650688-146650751	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:146649742-146649876	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:146649591-146649908	MCF-7	breast:	n/a	n/a
47	POLR2A	chr1:146650918-146651176	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr1:146649957-146650118	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr1:146650010-146650841	HepG2	liver:	n/a	n/a
50	POLR2A	chr1:146650029-146650057	K562	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:146650172-146650222	GM06990	blood:	n/a
2	chr1:146650172-146650222	GM06990	blood:	n/a
3	chr1:146649851-146649901	GM12891	blood:	n/a
4	chr1:146650172-146650222	AoSMC	blood vessel:	n/a
5	chr1:146649851-146649901	NHDF-neo	bronchial:	n/a
6	chr1:146649851-146649901	CMK	blood:	n/a
7	chr1:146650172-146650222	HAEpiC	amniotic membrane:	n/a
8	chr1:146650172-146650222	Caco-2	colon:	n/a
9	chr1:146649842-146649892	LNCaP	prostate:	n/a
10	chr1:146649851-146649901	GM06990	blood:	n/a
11	chr1:146650172-146650222	GM19239	blood:	n/a
12	chr1:146649851-146649901	Caco-2	colon:	n/a
13	chr1:146649842-146649892	Jurkat	blood:	n/a
14	chr1:146649851-146649901	RPTEC	kidney:	n/a
15	chr1:146650172-146650222	PrEC	prostate:	n/a
16	chr1:146649842-146649892	HIPEpiC	eye:	n/a
17	chr1:146650172-146650222	ECC-1	luminal epithelium:	n/a
18	chr1:146650172-146650222	HIPEpiC	eye:	n/a
19	chr1:146649851-146649901	NT2-D1	testis:	n/a
20	chr1:146649842-146649892	NHBE	bronchial:	n/a
21	chr1:146649842-146649892	MCF-7	breast:	n/a
22	chr1:146649842-146649892	IMR90	lung:	fetal
23	chr1:146649842-146649892	HCF	heart:	n/a
24	chr1:146649851-146649901	HCF	heart:	n/a
25	chr1:146650172-146650222	HL-60	blood:	n/a
26	chr1:146649842-146649892	AG09319	gingival:	n/a
27	chr1:146650172-146650222	U87	brain:	n/a
28	chr1:146650172-146650222	ovcar-3	ovarian:	n/a
29	chr1:146649851-146649901	HCM	heart:	n/a
30	chr1:146650172-146650222	SK-N-SH	brain:	n/a
31	chr1:146649851-146649901	HL-60	blood:	n/a
32	chr1:146649842-146649892	GM12878	blood:	n/a
33	chr1:146649851-146649901	PFSK-1	brain:	n/a
34	chr1:146650172-146650222	HCM	heart:	n/a
35	chr1:146649851-146649901	PANC-1	pancreas:	n/a
36	chr1:146649842-146649892	HL-60	blood:	n/a
37	chr1:146650172-146650222	PANC-1	pancreas:	n/a
38	chr1:146650172-146650222	GM12892	blood:	n/a
39	chr1:146650172-146650222	BJ	skin:	n/a
40	chr1:146649842-146649892	NH-A	brain:	n/a
41	chr1:146649842-146649892	HRE	kidney:	n/a
42	chr1:146650172-146650222	MCF10A-Er-Src	breast:	n/a
43	chr1:146649842-146649892	HNPCEpiC	eye:	n/a
44	chr1:146649851-146649901	ProgFib	skin:	n/a
45	chr1:146649842-146649892	SK-N-MC	brain:	n/a
46	chr1:146649851-146649901	Jurkat	blood:	n/a
47	chr1:146649842-146649892	GM19239	blood:	n/a
48	chr1:146649851-146649901	HEEpiC	esophagus:	n/a
49	chr1:146650172-146650222	NH-A	brain:	n/a
50	chr1:146650172-146650222	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr1:146649315..146651856-chr1:146712649..146716301,4	MCF-7	breast:
2	chr1:146643914..146646467-chr1:146647158..146650203,5	MCF-7	breast:
3	chr1:146643450..146645822-chr1:146651052..146653300,2	MCF-7	breast:
4	chr1:146637222..146651713-chr1:146712141..146718911,44	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD1L-3	chr1:146649430-146651528	NR_002305

No data

Variant related genes	Relation type
PDIA3P1	TF binding region
PDIA3P1	CpG island
ENSG00000131778	chromatin interactions
ENSG00000131791	chromatin interactions
ENSG00000131781	chromatin interactions
ENSG00000273071	chromatin interactions
ENSG00000237188	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1053423	chr1:146649854-146649855	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs116320121	chr1:146649867-146649868	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs587743869	chr1:146649884-146649885	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs587625473	chr1:146649885-146649886	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs111551384	chr1:146649889-146649890	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs192075578	chr1:146649936-146649937	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs587738284	chr1:146649940-146649941	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs587598785	chr1:146650004-146650005	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs72708526	chr1:146650007-146650008	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11541972	chr1:146650022-146650023	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs146944758	chr1:146650027-146650028	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
12	rs587626702	chr1:146650054-146650055	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
13	rs1816802	chr1:146650058-146650059	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183442614	chr1:146650074-146650075	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
15	rs587614751	chr1:146650088-146650089	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
16	rs188903899	chr1:146650091-146650092	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
17	rs587754676	chr1:146650100-146650101	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
18	rs1053425	chr1:146650190-146650191	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112117418	chr1:146650193-146650194	Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
20	rs587775599	chr1:146650230-146650231	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs587664098	chr1:146650270-146650271	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs182115355	chr1:146650279-146650280	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs138491716	chr1:146650280-146650281	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs1053426	chr1:146650289-146650290	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs1053427	chr1:146650295-146650296	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs72708527	chr1:146650312-146650313	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs587670302	chr1:146650322-146650323	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs191634238	chr1:146650337-146650338	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs587606494	chr1:146650338-146650339	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs587667387	chr1:146650361-146650362	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs17159909	chr1:146650363-146650364	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146913174	chr1:146650419-146650420	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs587693416	chr1:146650462-146650463	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs138931709	chr1:146650476-146650477	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs373190419	chr1:146650494-146650495	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs376388200	chr1:146650508-146650509	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs587709223	chr1:146650520-146650521	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs587771619	chr1:146650537-146650538	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs62623395	chr1:146650542-146650543	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs587707161	chr1:146650585-146650586	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs113547135	chr1:146650596-146650597	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs587636296	chr1:146650704-146650705	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs587709812	chr1:146650706-146650707	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs1803539	chr1:146650715-146650716	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs62623392	chr1:146650723-146650724	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs587714269	chr1:146650726-146650727	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs1803540	chr1:146650733-146650734	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs375271173	chr1:146650748-146650749	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs587669520	chr1:146650752-146650753	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs587726583	chr1:146650792-146650793	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:156)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146645400-146664400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:146645400-146674800	Weak transcription	Gastric	stomach
3	chr1:146645600-146650200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:146645600-146651800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:146645600-146661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:146645800-146675200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:146646000-146650200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:146646000-146651600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:146646000-146655400	Weak transcription	Brain Anterior Caudate	brain
10	chr1:146646000-146656000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:146646000-146661200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:146646200-146651200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:146646200-146657000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:146647200-146658000	Weak transcription	HepG2	liver
15	chr1:146647600-146651000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:146648400-146650000	Weak transcription	Placenta	Placenta
17	chr1:146648800-146659000	Weak transcription	Primary B cells from cord blood	blood
18	chr1:146649000-146650000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:146649200-146650000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:146649200-146650000	Enhancers	Small Intestine	intestine
21	chr1:146649200-146650000	Flanking Active TSS	NHDF-Ad	bronchial
22	chr1:146649400-146650000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:146649400-146650000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:146649400-146650000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:146649400-146650000	Active TSS	Adipose Nuclei	Adipose
26	chr1:146649400-146650000	Active TSS	Fetal Kidney	kidney
27	chr1:146649400-146650000	Active TSS	Psoas Muscle	Psoas
28	chr1:146649400-146650000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr1:146649400-146650000	Flanking Active TSS	NH-A	brain
30	chr1:146649600-146650000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:146649600-146650000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:146649600-146650000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:146649600-146650000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:146649600-146650000	ZNF genes & repeats	Aorta	Aorta
35	chr1:146649600-146650000	Enhancers	Liver	Liver
36	chr1:146649600-146650000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:146649600-146650000	Flanking Active TSS	Right Atrium	heart
38	chr1:146649600-146650000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:146649600-146650000	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr1:146649600-146650000	Active TSS	NHEK	skin
41	chr1:146649800-146650000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
42	chr1:146649800-146650000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:146649800-146650000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:146649800-146650000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:146649800-146650000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:146649800-146650000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr1:146649800-146650000	Enhancers	Fetal Lung	lung
48	chr1:146649800-146650000	Enhancers	Fetal Muscle Trunk	muscle
49	chr1:146649800-146650000	Enhancers	Pancreas	Pancrea
50	chr1:146649800-146650000	Enhancers	Rectal Mucosa Donor 31	rectum

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