Variant report

Variant	nsv945307
Chromosome Location	chr1:222641166-222693294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:293)
CpG islands
(count:549)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:222655175-222655470	GM12878	blood:	n/a	n/a
2	BHLHE40	chr1:222643613-222643813	K562	blood:	n/a	n/a
3	CBX3	chr1:222673464-222673827	K562	blood:	n/a	n/a
4	CEBPB	chr1:222644028-222644173	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:222662951-222663209	Hela-S3	cervix:	n/a	chr1:222663078-222663089
6	CEBPB	chr1:222657491-222657695	IMR90	lung:	n/a	n/a
7	CEBPB	chr1:222657366-222657743	K562	blood:	n/a	n/a
8	CEBPB	chr1:222662928-222663224	IMR90	lung:	n/a	chr1:222663078-222663089
9	CEBPB	chr1:222657410-222657686	K562	blood:	n/a	n/a
10	CEBPB	chr1:222657411-222657766	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr1:222657415-222657770	K562	blood:	n/a	n/a
12	CEBPB	chr1:222650895-222651083	IMR90	lung:	n/a	n/a
13	CEBPB	chr1:222663003-222663198	A549	lung:	n/a	chr1:222663078-222663089
14	CEBPD	chr1:222657357-222657820	K562	blood:	n/a	n/a
15	CTCF	chr1:222651000-222651150	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr1:222649900-222650050	NHLF	lung:	n/a	n/a
17	CTCF	chr1:222649900-222650050	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:222649880-222650030	GM12873	blood:	n/a	n/a
19	CTCF	chr1:222649920-222650070	HAc	cerebellar:	n/a	n/a
20	CTCF	chr1:222649880-222650030	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr1:222649920-222650070	HMEC	breast:	n/a	n/a
22	CTCF	chr1:222649880-222650030	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr1:222649880-222650030	AG09309	skin:	n/a	n/a
24	CTCF	chr1:222649920-222650070	GM12864	blood:	n/a	n/a
25	CTCF	chr1:222649632-222649906	A549	lung:	n/a	n/a
26	CTCF	chr1:222649880-222650030	SAEC	small airway:	n/a	n/a
27	CTCF	chr1:222649880-222650030	AG10803	skin:	n/a	n/a
28	CTCF	chr1:222655555-222655595	LNCaP	prostate:	n/a	n/a
29	CTCF	chr1:222649920-222650070	GM12870	blood:	n/a	n/a
30	CTCF	chr1:222649966-222650100	K562	blood:	n/a	n/a
31	CTCF	chr1:222649880-222650030	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr1:222649880-222650030	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr1:222649900-222650050	SAEC	small airway:	n/a	n/a
34	CTCF	chr1:222647090-222647391	K562	blood:	n/a	n/a
35	CTCF	chr1:222649880-222650030	HepG2	liver:	n/a	n/a
36	CTCF	chr1:222649900-222650050	GM12868	blood:	n/a	n/a
37	CTCF	chr1:222649880-222650030	AG04449	skin:	n/a	n/a
38	CTCF	chr1:222649860-222650010	HCT-116	colon:	n/a	n/a
39	CTCF	chr1:222644773-222644980	K562	blood:	n/a	n/a
40	CTCF	chr1:222649968-222650185	K562	blood:	n/a	n/a
41	CTCF	chr1:222649966-222650099	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:222647184-222647271	GM10266	blood:	n/a	n/a
43	CTCF	chr1:222649880-222650030	HRE	kidney:	n/a	n/a
44	CTCF	chr1:222649977-222650104	GM12878	blood:	n/a	n/a
45	CTCF	chr1:222649961-222650053	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:222650960-222651110	HCM	heart:	n/a	n/a
47	CTCF	chr1:222649962-222650098	ProgFib	skin:	n/a	n/a
48	CTCF	chr1:222650001-222650049	GM19239	blood:	n/a	n/a
49	CTCF	chr1:222649952-222650076	GM13977	blood:	n/a	n/a
50	CTCF	chr1:222649941-222650106	GM19240	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:222673618-222673668	BJ	skin:	n/a
2	chr1:222645903-222645953	GM12891	blood:	n/a
3	chr1:222648256-222648306	AG09309	skin:	n/a
4	chr1:222641123-222641173	SAEC	small airway:	n/a
5	chr1:222673618-222673668	NB4	blood:	n/a
6	chr1:222649872-222649922	SKMC	muscle:	n/a
7	chr1:222649872-222649922	Hepatocyte	liver:	n/a
8	chr1:222646260-222646310	MCF10A-Er-Src	breast:	n/a
9	chr1:222641292-222641342	GM12892	blood:	n/a
10	chr1:222673618-222673668	HRPEpiC	eye:	n/a
11	chr1:222648256-222648306	U87	brain:	n/a
12	chr1:222645903-222645953	T-47D	breast:	n/a
13	chr1:222648256-222648306	MCF10A-Er-Src	breast:	n/a
14	chr1:222641123-222641173	RPTEC	kidney:	n/a
15	chr1:222649872-222649922	NH-A	brain:	n/a
16	chr1:222641292-222641342	HNPCEpiC	eye:	n/a
17	chr1:222646260-222646310	Hepatocyte	liver:	n/a
18	chr1:222648256-222648306	K562	blood:	n/a
19	chr1:222645903-222645953	HMEC	breast:	n/a
20	chr1:222649872-222649922	HMEC	breast:	n/a
21	chr1:222641292-222641342	GM06990	blood:	n/a
22	chr1:222648256-222648306	NHDF-neo	bronchial:	n/a
23	chr1:222646260-222646310	Caco-2	colon:	n/a
24	chr1:222646954-222647004	HEK293	kidney:	embryo
25	chr1:222648256-222648306	HUVEC	blood vessel:	n/a
26	chr1:222646260-222646310	NB4	blood:	n/a
27	chr1:222646260-222646310	MCF-7	breast:	n/a
28	chr1:222646922-222646972	Jurkat	blood:	n/a
29	chr1:222673618-222673668	A549	lung:	n/a
30	chr1:222646260-222646310	HAEpiC	amniotic membrane:	n/a
31	chr1:222645903-222645953	HL-60	blood:	n/a
32	chr1:222649872-222649922	CMK	blood:	n/a
33	chr1:222646260-222646310	HRPEpiC	eye:	n/a
34	chr1:222646954-222647004	HUVEC	blood vessel:	n/a
35	chr1:222648256-222648306	HCT-116	colon:	n/a
36	chr1:222646922-222646972	IMR90	lung:	fetal
37	chr1:222646954-222647004	GM12892	blood:	n/a
38	chr1:222649872-222649922	HRE	kidney:	n/a
39	chr1:222641123-222641173	MCF10A-Er-Src	breast:	n/a
40	chr1:222646922-222646972	HNPCEpiC	eye:	n/a
41	chr1:222641292-222641342	NB4	blood:	n/a
42	chr1:222646260-222646310	HCM	heart:	n/a
43	chr1:222646922-222646972	AG04449	skin:	fetal
44	chr1:222673618-222673668	SK-N-SH	brain:	n/a
45	chr1:222641292-222641342	PANC-1	pancreas:	n/a
46	chr1:222646260-222646310	PANC-1	pancreas:	n/a
47	chr1:222641123-222641173	IMR90	lung:	fetal
48	chr1:222645903-222645953	AG10803	skin:	n/a
49	chr1:222646954-222647004	AG04450	lung:	fetal
50	chr1:222645903-222645953	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:222649935..222650543-chr1:222807894..222808396,2	MCF-7	breast:
2	chr1:222639067..222641246-chr1:222763125..222764853,2	K562	blood:
3	chr1:222693122..222695391-chr1:222762948..222765131,2	K562	blood:
4	chr1:222639000..222642188-chr1:222791446..222794042,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HHIPL2-4	chr1:222692965-222693074	NONHSAT009684
2	lnc-HHIPL2-4	chr1:222691767-222691898	NONHSAT009684
3	lnc-MIA3-5	chr1:222689237-222689512	ucscGeneNc_uc001hor_1

No data

Variant related genes	Relation type
CICP13	TF binding region
RNU6-791P	TF binding region
CICP13	CpG island
RNU6-791P	CpG island
ENSG00000225265	chromatin interactions
ENSG00000154305	chromatin interactions
ENSG00000143498	chromatin interactions

Extended variants
information (count: 927 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:927 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541639841	chr1:222641179-222641180	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs556770047	chr1:222641180-222641181	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs559677187	chr1:222641191-222641192	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs75410311	chr1:222641225-222641226	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs542289272	chr1:222641245-222641246	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs147706035	chr1:222641248-222641249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531166500	chr1:222641264-222641265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549355058	chr1:222641307-222641308	Weak transcription Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35730534	chr1:222641369-222641370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571561540	chr1:222641381-222641382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532280674	chr1:222641385-222641386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375927898	chr1:222641424-222641425	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112049201	chr1:222641452-222641453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs34747518	chr1:222641468-222641469	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548654479	chr1:222641479-222641480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs151302140	chr1:222641490-222641491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537489392	chr1:222641501-222641502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373160013	chr1:222641502-222641503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528749468	chr1:222641515-222641516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4103697	chr1:222641584-222641585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs193156842	chr1:222641585-222641586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534975443	chr1:222641591-222641592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553554197	chr1:222641663-222641664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574648162	chr1:222641675-222641676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542326245	chr1:222641683-222641684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145905751	chr1:222641689-222641690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370651796	chr1:222641699-222641700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562100122	chr1:222641700-222641701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543431253	chr1:222641730-222641731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564708260	chr1:222641740-222641741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532452041	chr1:222641745-222641746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs3877140	chr1:222641772-222641773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369371802	chr1:222641796-222641797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35186463	chr1:222641797-222641798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140250811	chr1:222641826-222641827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4011779	chr1:222641834-222641835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570192409	chr1:222641835-222641836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370252367	chr1:222641836-222641837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373823874	chr1:222641844-222641845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs145241282	chr1:222641910-222641911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570731203	chr1:222641917-222641918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535333148	chr1:222641931-222641932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs71301077	chr1:222641939-222641940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574780834	chr1:222641942-222641943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs367665213	chr1:222641944-222641945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557109512	chr1:222641945-222641946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575763766	chr1:222641982-222641983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35160639	chr1:222642015-222642016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543114922	chr1:222642021-222642022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564916876	chr1:222642033-222642034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222639400-222649200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:222639800-222641200	Weak transcription	Small Intestine	intestine
3	chr1:222639800-222641400	Enhancers	HepG2	liver
4	chr1:222640600-222641600	Weak transcription	Pancreas	Pancrea
5	chr1:222641600-222642000	Enhancers	Pancreas	Pancrea
6	chr1:222647200-222647800	Enhancers	Placenta	Placenta
7	chr1:222656800-222657000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:222657000-222662800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:222662800-222663600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:222681200-222695200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:222682400-222682800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:222690400-222690600	Enhancers	Adipose Nuclei	Adipose
13	chr1:222690400-222690600	Enhancers	Liver	Liver
14	chr1:222690600-222694200	Weak transcription	Liver	Liver
15	chr1:222690800-222692000	Weak transcription	Adipose Nuclei	Adipose
16	chr1:222691800-222692600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:222692000-222692600	Enhancers	Adipose Nuclei	Adipose
18	chr1:222692400-222692600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:222692600-222694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:222692600-222694600	Weak transcription	Adipose Nuclei	Adipose

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