Variant report

Variant	nsv829575
Chromosome Location	chr2:95327442-95413280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:211)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:95350794-95351086	GM12878	blood:	n/a	chr2:95350961-95350971 chr2:95350965-95350975
2	CEBPD	chr2:95410683-95411224	K562	blood:	n/a	n/a
3	CTCF	chr2:95373826-95373887	GM13976	blood:	n/a	n/a
4	CTCF	chr2:95401660-95401810	HEK293	kidney:	n/a	n/a
5	CTCF	chr2:95401476-95401654	ProgFib	skin:	n/a	n/a
6	CTCF	chr2:95393978-95394077	GM13977	blood:	n/a	n/a
7	CTCF	chr2:95401560-95401710	GM06990	blood:	n/a	n/a
8	CTCF	chr2:95391380-95391530	K562	blood:	n/a	n/a
9	CTCF	chr2:95401460-95401686	Fibrobl	skin:	n/a	n/a
10	CTCF	chr2:95379588-95379654	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr2:95401459-95401637	K562	blood:	n/a	n/a
12	CTCF	chr2:95402920-95403070	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:95402884-95403257	K562	blood:	n/a	n/a
14	CTCF	chr2:95403054-95403087	MCF-7	breast:	n/a	n/a
15	CTCF	chr2:95364149-95364173	Lung_OC	lung:	n/a	n/a
16	CTCF	chr2:95402982-95403159	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:95401495-95401631	GM12892	blood:	n/a	n/a
18	CTCF	chr2:95401483-95401624	K562	blood:	n/a	n/a
19	CTCF	chr2:95330382-95330416	GM10266	blood:	n/a	n/a
20	CTCF	chr2:95350837-95350897	A549	lung:	n/a	n/a
21	CTCF	chr2:95402961-95403191	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:95401489-95401617	GM19238	blood:	n/a	n/a
23	CTCF	chr2:95375299-95375349	GM10248	blood:	n/a	n/a
24	CTCF	chr2:95402980-95403130	MCF-7	breast:	n/a	n/a
25	CTCF	chr2:95400347-95400365	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr2:95402948-95403274	K562	blood:	n/a	n/a
27	CTCF	chr2:95403000-95403150	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr2:95402920-95403070	BE2_C	brain:	n/a	n/a
29	CTCF	chr2:95402963-95403230	K562	blood:	n/a	n/a
30	CTCF	chr2:95411015-95411060	GM13976	blood:	n/a	n/a
31	CTCF	chr2:95401478-95401658	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr2:95403016-95403096	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr2:95401510-95401606	Lung_OC	lung:	n/a	n/a
34	CTCF	chr2:95365774-95365806	Medullo	brain:	n/a	n/a
35	CTCF	chr2:95402982-95403174	HepG2	liver:	n/a	n/a
36	CTCF	chr2:95401471-95401646	Medullo	brain:	n/a	n/a
37	CTCF	chr2:95402980-95403130	HCT-116	colon:	n/a	n/a
38	CTCF	chr2:95351647-95351713	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr2:95402930-95403136	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr2:95401562-95401620	GM10266	blood:	n/a	n/a
41	CTCF	chr2:95402980-95403130	HepG2	liver:	n/a	n/a
42	CTCF	chr2:95402990-95403144	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:95401464-95401671	NHEK	skin:	n/a	n/a
44	CTCF	chr2:95402960-95403110	A549	lung:	n/a	n/a
45	CTCF	chr2:95402920-95403070	K562	blood:	n/a	n/a
46	CTCF	chr2:95401320-95401470	GM12873	blood:	n/a	n/a
47	CTCF	chr2:95403000-95403150	HepG2	liver:	n/a	n/a
48	CTCF	chr2:95401533-95401655	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr2:95371190-95371258	LNCaP	prostate:	n/a	n/a
50	CTCF	chr2:95401553-95401605	GM13977	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:95403737-95403787	HCM	heart:	n/a
2	chr2:95400764-95400814	HepG2	liver:	n/a
3	chr2:95403737-95403787	RPTEC	kidney:	n/a
4	chr2:95401381-95401431	Caco-2	colon:	n/a
5	chr2:95403063-95403113	GM12892	blood:	n/a
6	chr2:95401381-95401431	Hela-S3	cervix:	n/a
7	chr2:95403063-95403113	BE2_C	brain:	n/a
8	chr2:95400764-95400814	GM06990	blood:	n/a
9	chr2:95400764-95400814	HRPEpiC	eye:	n/a
10	chr2:95398021-95398071	CMK	blood:	n/a
11	chr2:95403063-95403113	K562	blood:	n/a
12	chr2:95403063-95403113	GM06990	blood:	n/a
13	chr2:95401381-95401431	AoSMC	blood vessel:	n/a
14	chr2:95403737-95403787	HIPEpiC	eye:	n/a
15	chr2:95400764-95400814	MCF-7	breast:	n/a
16	chr2:95400764-95400814	PrEC	prostate:	n/a
17	chr2:95403063-95403113	HEK293	kidney:	embryo
18	chr2:95401381-95401431	ECC-1	luminal epithelium:	n/a
19	chr2:95401381-95401431	NHDF-neo	bronchial:	n/a
20	chr2:95403063-95403113	HCM	heart:	n/a
21	chr2:95400764-95400814	PANC-1	pancreas:	n/a
22	chr2:95400764-95400814	SK-N-SH_RA	brain:	n/a
23	chr2:95400764-95400814	AG09309	skin:	n/a
24	chr2:95401381-95401431	HepG2	liver:	n/a
25	chr2:95401381-95401431	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:95403063-95403113	AoSMC	blood vessel:	n/a
27	chr2:95398021-95398071	HRCEpiC	kidney:	n/a
28	chr2:95401381-95401431	SK-N-SH	brain:	n/a
29	chr2:95403737-95403787	BE2_C	brain:	n/a
30	chr2:95403737-95403787	GM19239	blood:	n/a
31	chr2:95398021-95398071	GM06990	blood:	n/a
32	chr2:95401381-95401431	AG04450	lung:	fetal
33	chr2:95398021-95398071	GM12878	blood:	n/a
34	chr2:95398021-95398071	HUVEC	blood vessel:	n/a
35	chr2:95401381-95401431	H1-hESC	embryonic stem cell:	embryo
36	chr2:95398021-95398071	AoSMC	blood vessel:	n/a
37	chr2:95403737-95403787	HRCEpiC	kidney:	n/a
38	chr2:95401381-95401431	NHBE	bronchial:	n/a
39	chr2:95401381-95401431	Jurkat	blood:	n/a
40	chr2:95401381-95401431	RPTEC	kidney:	n/a
41	chr2:95403063-95403113	PFSK-1	brain:	n/a
42	chr2:95400764-95400814	PFSK-1	brain:	n/a
43	chr2:95403737-95403787	MCF-7	breast:	n/a
44	chr2:95403063-95403113	U87	brain:	n/a
45	chr2:95400764-95400814	GM12878	blood:	n/a
46	chr2:95400764-95400814	NT2-D1	testis:	n/a
47	chr2:95400764-95400814	HUVEC	blood vessel:	n/a
48	chr2:95401381-95401431	CMK	blood:	n/a
49	chr2:95403737-95403787	AG09309	skin:	n/a
50	chr2:95403737-95403787	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
CNN2P8	TF binding region
ENSG00000234837	TF binding region
ENSG00000227265	TF binding region
CNN2P11	TF binding region
CNN2P8	CpG island
ENSG00000234837	CpG island
ENSG00000227265	CpG island
CNN2P11	CpG island

Extended variants
information (count: 425 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4056840	chr2:95334245-95334246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146330511	chr2:95334255-95334256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571576080	chr2:95334277-95334278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540635978	chr2:95334291-95334292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180993046	chr2:95334301-95334302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550431731	chr2:95334303-95334304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568725175	chr2:95334307-95334308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs408609	chr2:95334323-95334324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4056838	chr2:95334325-95334326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536075079	chr2:95334358-95334359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369544	chr2:95334372-95334373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186031200	chr2:95334376-95334377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs404845	chr2:95334387-95334388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572896724	chr2:95334455-95334456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533873028	chr2:95334522-95334523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558273726	chr2:95334523-95334524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565408848	chr2:95334524-95334525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545734090	chr2:95334528-95334529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74963707	chr2:95334539-95334540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564007106	chr2:95334545-95334546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367309	chr2:95334548-95334549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3053697	chr2:95334551-95334552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530435182	chr2:95334552-95334553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575989211	chr2:95334578-95334579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2874417	chr2:95334595-95334596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2261240	chr2:95334615-95334616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543291972	chr2:95334624-95334625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561523653	chr2:95334626-95334627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2693607	chr2:95334650-95334651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528587028	chr2:95334651-95334652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540674951	chr2:95334663-95334664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565157160	chr2:95334710-95334711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532502289	chr2:95334726-95334727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550544652	chr2:95334754-95334755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568838200	chr2:95334772-95334773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112412238	chr2:95334809-95334810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529933845	chr2:95334868-95334869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548019840	chr2:95334870-95334871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566617896	chr2:95334894-95334895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533675527	chr2:95334908-95334909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532855953	chr2:95334930-95334931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570439215	chr2:95334984-95334985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373257	chr2:95334987-95334988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544772637	chr2:95334993-95334994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190414866	chr2:95335041-95335042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs364517	chr2:95335076-95335077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs451570	chr2:95335080-95335081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576048246	chr2:95335094-95335095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530364214	chr2:95335104-95335105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548856621	chr2:95335108-95335109	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Breast cancer	21785460	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95334200-95336600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:95334400-95335600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:95334600-95335200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:95391200-95391600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:95400600-95401000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:95401200-95402400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:95401400-95401600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:95401400-95402000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:95402800-95403000	Enhancers	K562	blood

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