Variant report

Variant	nsv945337
Chromosome Location	chr1:227680551-227712483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:173)
CpG islands
(count:428)
Chromatin interactive
region (count:14)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:173 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:227707460-227707741	K562	blood:	n/a	n/a
2	ATF1	chr1:227706661-227706942	K562	blood:	n/a	n/a
3	BATF	chr1:227700853-227701013	GM12878	blood:	n/a	n/a
4	BATF	chr1:227700860-227701014	GM12878	blood:	n/a	n/a
5	BHLHE40	chr1:227707483-227707580	K562	blood:	n/a	n/a
6	BHLHE40	chr1:227698710-227698928	K562	blood:	n/a	n/a
7	CEBPB	chr1:227707135-227707359	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:227707212-227707389	A549	lung:	n/a	n/a
9	CTCF	chr1:227691552-227691637	GM13976	blood:	n/a	n/a
10	CTCF	chr1:227700932-227701064	GM12891	blood:	n/a	n/a
11	CTCF	chr1:227709572-227709620	Fibrobl	skin:	n/a	n/a
12	CTCF	chr1:227681827-227681851	Pancreas_OC	pancreas:	n/a	chr1:227681841-227681849
13	CTCF	chr1:227700936-227701052	GM12892	blood:	n/a	n/a
14	CTCF	chr1:227683017-227683082	GM13976	blood:	n/a	n/a
15	CTCF	chr1:227681796-227681880	MCF-7	breast:	n/a	chr1:227681841-227681849
16	CTCF	chr1:227700936-227701051	Gliobla	brain:	n/a	n/a
17	CTCF	chr1:227680790-227680805	GM20000	blood:	n/a	n/a
18	CTCF	chr1:227694763-227694964	K562	blood:	n/a	chr1:227694877-227694885
19	CTCF	chr1:227694828-227694923	Hela-S3	cervix:	n/a	chr1:227694877-227694885
20	CTCF	chr1:227694940-227695034	LNCaP	prostate:	n/a	n/a
21	CTCF	chr1:227700936-227701045	GM19238	blood:	n/a	n/a
22	CTCF	chr1:227694805-227694931	MCF-7	breast:	n/a	chr1:227694877-227694885
23	CTCF	chr1:227700885-227701082	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:227700930-227701067	GM19239	blood:	n/a	n/a
25	CTCF	chr1:227695547-227695598	GM20000	blood:	n/a	n/a
26	CTCF	chr1:227694832-227694911	NHEK	skin:	n/a	chr1:227694877-227694885
27	CTCF	chr1:227700941-227701010	NHEK	skin:	n/a	n/a
28	CTCF	chr1:227700931-227701064	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:227683370-227683383	LNCaP	prostate:	n/a	n/a
30	CTCF	chr1:227700931-227701017	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr1:227710101-227710223	GM13976	blood:	n/a	n/a
32	CTCF	chr1:227681759-227681902	MCF-7	breast:	n/a	chr1:227681841-227681849
33	CTCF	chr1:227700700-227700738	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr1:227694812-227694942	K562	blood:	n/a	chr1:227694877-227694885
35	CTCF	chr1:227695610-227695616	GM20000	blood:	n/a	n/a
36	CTCF	chr1:227681768-227681887	MCF-7	breast:	n/a	chr1:227681841-227681849
37	CTCF	chr1:227694794-227694940	MCF-7	breast:	n/a	chr1:227694877-227694885
38	CTCF	chr1:227700941-227701037	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:227694802-227694901	GM19239	blood:	n/a	chr1:227694877-227694885
40	CTCF	chr1:227694822-227694919	MCF-7	breast:	n/a	chr1:227694877-227694885
41	CTCF	chr1:227700934-227701032	Lung_OC	lung:	n/a	n/a
42	CTCF	chr1:227694830-227694953	MCF-7	breast:	n/a	chr1:227694877-227694885
43	CTCF	chr1:227681734-227681923	K562	blood:	n/a	chr1:227681841-227681849
44	CTCF	chr1:227700879-227701079	MCF-7	breast:	n/a	n/a
45	CTCF	chr1:227700936-227701047	GM19240	blood:	n/a	n/a
46	CTCF	chr1:227700890-227700896	Lung_OC	lung:	n/a	n/a
47	CTCF	chr1:227681782-227681867	GM19239	blood:	n/a	chr1:227681841-227681849
48	CTCF	chr1:227693617-227693710	GM20000	blood:	n/a	n/a
49	CTCF	chr1:227681751-227681883	K562	blood:	n/a	chr1:227681841-227681849
50	CTCF	chr1:227681752-227681902	MCF-7	breast:	n/a	chr1:227681841-227681849

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227684434-227684484	Caco-2	colon:	n/a
2	chr1:227684434-227684484	Caco-2	colon:	n/a
3	chr1:227692291-227692341	RPTEC	kidney:	n/a
4	chr1:227689829-227689879	NT2-D1	testis:	n/a
5	chr1:227695939-227695989	HCF	heart:	n/a
6	chr1:227680750-227680800	RPTEC	kidney:	n/a
7	chr1:227696691-227696741	RPTEC	kidney:	n/a
8	chr1:227696691-227696741	HPAEpiC	pulmonary alveolar:	n/a
9	chr1:227695939-227695989	HRCEpiC	kidney:	n/a
10	chr1:227680750-227680800	ovcar-3	ovarian:	n/a
11	chr1:227692291-227692341	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:227680750-227680800	NHDF-neo	bronchial:	n/a
13	chr1:227696691-227696741	SK-N-SH_RA	brain:	n/a
14	chr1:227696691-227696741	T-47D	breast:	n/a
15	chr1:227692291-227692341	CMK	blood:	n/a
16	chr1:227680750-227680800	GM12892	blood:	n/a
17	chr1:227680750-227680800	PANC-1	pancreas:	n/a
18	chr1:227692291-227692341	SAEC	small airway:	n/a
19	chr1:227689829-227689879	Jurkat	blood:	n/a
20	chr1:227689829-227689879	SK-N-SH	brain:	n/a
21	chr1:227692291-227692341	NHBE	bronchial:	n/a
22	chr1:227689829-227689879	NH-A	brain:	n/a
23	chr1:227696691-227696741	NB4	blood:	n/a
24	chr1:227684434-227684484	LNCaP	prostate:	n/a
25	chr1:227689829-227689879	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:227686895-227686945	PANC-1	pancreas:	n/a
27	chr1:227695939-227695989	NHBE	bronchial:	n/a
28	chr1:227686895-227686945	MCF10A-Er-Src	breast:	n/a
29	chr1:227696691-227696741	SK-N-SH	brain:	n/a
30	chr1:227686895-227686945	Jurkat	blood:	n/a
31	chr1:227684434-227684484	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:227684434-227684484	HCF	heart:	n/a
33	chr1:227686895-227686945	NH-A	brain:	n/a
34	chr1:227689829-227689879	HRCEpiC	kidney:	n/a
35	chr1:227696691-227696741	ProgFib	skin:	n/a
36	chr1:227680750-227680800	PrEC	prostate:	n/a
37	chr1:227692291-227692341	Caco-2	colon:	n/a
38	chr1:227689829-227689879	HEK293	kidney:	embryo
39	chr1:227684434-227684484	CMK	blood:	n/a
40	chr1:227695939-227695989	GM12878	blood:	n/a
41	chr1:227680750-227680800	HRPEpiC	eye:	n/a
42	chr1:227684434-227684484	AG09319	gingival:	n/a
43	chr1:227684434-227684484	NT2-D1	testis:	n/a
44	chr1:227696691-227696741	SKMC	muscle:	n/a
45	chr1:227692291-227692341	PFSK-1	brain:	n/a
46	chr1:227680750-227680800	HRCEpiC	kidney:	n/a
47	chr1:227692291-227692341	Hepatocyte	liver:	n/a
48	chr1:227684434-227684484	HRPEpiC	eye:	n/a
49	chr1:227686895-227686945	SKMC	muscle:	n/a
50	chr1:227692291-227692341	HUVEC	blood vessel:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227696113..227699015-chr1:227705081..227707461,4	K562	blood:
2	chr1:227696113..227699015-chr1:227705081..227707461,4	K562	blood:
3	chr1:227704941..227707226-chr1:227710980..227713652,2	K562	blood:
4	chr1:227700137..227701945-chr1:227703714..227706435,2	MCF-7	breast:
5	chr1:227678598..227681578-chr12:49714461..49716168,2	K562	blood:
6	chr1:227704941..227707226-chr1:227710980..227713652,2	K562	blood:
7	chr1:227695645..227697944-chr1:227752053..227753592,2	K562	blood:
8	chr1:227687608..227690220-chr1:228135013..228137869,2	MCF-7	breast:
9	chr1:227705164..227707099-chr1:227922346..227924920,2	MCF-7	breast:
10	chr1:227673452..227675366-chr1:227678789..227681426,2	K562	blood:
11	chr1:227696655..227700997-chr1:227705079..227707461,4	K562	blood:
12	chr1:227699513..227702199-chr1:227720616..227723558,2	K562	blood:
13	chr1:227696655..227700997-chr1:227705079..227707461,4	K562	blood:
14	chr1:227700137..227701945-chr1:227703714..227706435,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC42BPA-1	chr1:227698498-227698669	ENSG00000227711
2	lnc-CDC42BPA-1	chr1:227707461-227707510	ENSG00000227711
3	lnc-CDC42BPA-1	chr1:227708099-227708178	ENSG00000227711
4	lnc-CDC42BPA-1	chr1:227699298-227699391	ENSG00000227711
5	lnc-CDC42BPA-1	chr1:227699939-227700069	ENSG00000227711
6	lnc-CDC42BPA-1	chr1:227698297-227698388	ENSG00000227711

No data

Variant related genes	Relation type
TUBB8P10	TF binding region
ENSG00000227711	TF binding region
TUBB8P9	TF binding region
TUBB8P10	CpG island
ENSG00000227711	CpG island
TUBB8P9	CpG island
ENSG00000143816	chromatin interactions
ENSG00000081692	chromatin interactions
ENSG00000143740	chromatin interactions

Extended variants
information (count: 596 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577928813	chr1:227680558-227680559	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545152873	chr1:227680593-227680594	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113300315	chr1:227680595-227680596	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2644158	chr1:227680600-227680601	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs59345619	chr1:227680605-227680606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561453165	chr1:227680614-227680615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112673111	chr1:227680618-227680619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550156121	chr1:227680622-227680623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189389173	chr1:227680689-227680690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373871942	chr1:227680698-227680699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547603010	chr1:227680704-227680705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565914730	chr1:227680706-227680707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536331944	chr1:227680721-227680722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547950267	chr1:227680741-227680742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569749004	chr1:227680744-227680745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552809164	chr1:227680751-227680752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146361071	chr1:227680754-227680755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200831023	chr1:227680777-227680778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2814075	chr1:227680783-227680784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538989077	chr1:227680798-227680799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199539033	chr1:227683054-227683055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200915596	chr1:227683080-227683081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs61833922	chr1:227683150-227683151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
24	rs536951429	chr1:227683179-227683180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs61833923	chr1:227683197-227683198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs61833924	chr1:227683199-227683200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs541389797	chr1:227683201-227683202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs61833930	chr1:227684476-227684477	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	mRNA abundance
29	rs61833931	chr1:227684482-227684483	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	mRNA abundance
30	rs61833932	chr1:227684486-227684487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
31	rs548834381	chr1:227684581-227684582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201732039	chr1:227684669-227684670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs148571287	chr1:227684975-227684976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs144589916	chr1:227684987-227684988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs541883009	chr1:227685002-227685003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs145563222	chr1:227685003-227685004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs575450205	chr1:227685008-227685009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs545586677	chr1:227685013-227685014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs199920463	chr1:227685025-227685026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs563979918	chr1:227685029-227685030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs368774112	chr1:227685035-227685036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs539967037	chr1:227685044-227685045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs561649447	chr1:227685063-227685064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373457806	chr1:227685083-227685084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs377402916	chr1:227685088-227685089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs142685832	chr1:227685137-227685138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs77378865	chr1:227685174-227685175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs149544458	chr1:227685176-227685177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs563960916	chr1:227685212-227685213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs531279179	chr1:227685216-227685217	Inactive region	TF binding 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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227680200-227680800	Enhancers	Placenta	Placenta
2	chr1:227680400-227680600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr1:227680400-227680600	Bivalent Enhancer	HSMMtube	muscle
4	chr1:227696200-227696400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:227696400-227696600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:227696400-227696600	ZNF genes & repeats	Right Atrium	heart
7	chr1:227696600-227699600	Weak transcription	Right Atrium	heart
8	chr1:227699800-227700400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:227700400-227701400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:227701400-227701600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:227706800-227707000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:227706800-227707600	Enhancers	K562	blood
13	chr1:227709200-227710200	Enhancers	HSMMtube	muscle
14	chr1:227709600-227710200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links