Variant report

Variant	nsv874667
Chromosome Location	chr2:96465201-96596515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:96595249-96595443	K562	blood:	n/a	n/a
2	ATF1	chr2:96521076-96521271	K562	blood:	n/a	n/a
3	ATF1	chr2:96517700-96517757	K562	blood:	n/a	n/a
4	BACH1	chr2:96526429-96526517	K562	blood:	n/a	n/a
5	BACH1	chr2:96492683-96492753	K562	blood:	n/a	n/a
6	BATF	chr2:96533155-96533370	GM12878	blood:	n/a	n/a
7	BATF	chr2:96491153-96491435	GM12878	blood:	n/a	n/a
8	BCL11A	chr2:96594562-96594761	GM12878	blood:	n/a	n/a
9	BCL3	chr2:96468045-96468276	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:96533093-96533344	HepG2	liver:	n/a	n/a
11	BHLHE40	chr2:96557498-96557706	HepG2	liver:	n/a	n/a
12	BRCA1	chr2:96526629-96526661	GM12878	blood:	n/a	n/a
13	BRCA1	chr2:96577237-96577420	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr2:96556081-96556287	IMR90	lung:	n/a	n/a
15	CEBPB	chr2:96504906-96504952	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:96556160-96556378	A549	lung:	n/a	n/a
17	CEBPB	chr2:96479121-96479321	IMR90	lung:	n/a	n/a
18	CEBPB	chr2:96576685-96576797	A549	lung:	n/a	n/a
19	CEBPB	chr2:96556161-96556364	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:96482679-96482785	A549	lung:	n/a	n/a
21	CEBPB	chr2:96577216-96577553	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr2:96482692-96482778	HepG2	liver:	n/a	n/a
23	CHD2	chr2:96577302-96577508	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr2:96476313-96476420	Medullo	brain:	n/a	n/a
25	CTCF	chr2:96465489-96465587	K562	blood:	n/a	n/a
26	CTCF	chr2:96467670-96467699	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr2:96465505-96465574	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr2:96491893-96491972	Lung_OC	lung:	n/a	n/a
29	CTCF	chr2:96501792-96501821	GM10266	blood:	n/a	n/a
30	CTCF	chr2:96516103-96516174	GM13976	blood:	n/a	n/a
31	CTCF	chr2:96545735-96545764	GM10248	blood:	n/a	n/a
32	CTCF	chr2:96541814-96541903	GM10248	blood:	n/a	n/a
33	CTCF	chr2:96477702-96477778	LNCaP	prostate:	n/a	n/a
34	CTCF	chr2:96526660-96526810	AG10803	skin:	n/a	n/a
35	CTCF	chr2:96516220-96516370	AG04450	lung:	n/a	n/a
36	CTCF	chr2:96482935-96483090	GM10266	blood:	n/a	n/a
37	CTCF	chr2:96494215-96494281	LNCaP	prostate:	n/a	n/a
38	CTCF	chr2:96509419-96509475	Medullo	brain:	n/a	n/a
39	CTCF	chr2:96524280-96524430	AG04449	skin:	n/a	n/a
40	CTCF	chr2:96491532-96491573	GM13977	blood:	n/a	n/a
41	CUX1	chr2:96526654-96526665	GM12878	blood:	n/a	n/a
42	EP300	chr2:96566956-96567210	GM12878	blood:	n/a	n/a
43	EP300	chr2:96572572-96572826	GM12878	blood:	n/a	n/a
44	EP300	chr2:96568292-96568601	GM12878	blood:	n/a	n/a
45	EP300	chr2:96573873-96574217	GM12878	blood:	n/a	n/a
46	EP300	chr2:96577216-96577620	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr2:96577225-96577536	Hela-S3	cervix:	n/a	n/a
48	EP300	chr2:96517655-96517844	Hela-S3	cervix:	n/a	chr2:96517665-96517672
49	EP300	chr2:96517687-96517911	K562	blood:	n/a	n/a
50	EP300	chr2:96577315-96577602	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36C-1	chr2:96472866-96473050	ENSG00000232931
2	lnc-GPAT2-5	chr2:96559198-96559313	ucscGeneNc_uc002swd_1
3	lnc-GPAT2-6	chr2:96523088-96523240	NONHSAT072520
4	lnc-ANKRD36C-1	chr2:96489949-96492729	NONHSAT072509
5	lnc-ANKRD36C-1	chr2:96479558-96479705	NONHSAT072514
6	lnc-GPAT2-5	chr2:96561691-96561770	ucscGeneNc_uc002swd_1
7	lnc-ANKRD36C-1	chr2:96480419-96480840	NONHSAT072516
8	lnc-ANKRD36C-1	chr2:96479810-96479882	NONHSAT072516
9	lnc-ANKRD36C-1	chr2:96479079-96479705	NONHSAT072513
10	lnc-ANKRD36C-1	chr2:96472800-96473050	NONHSAT072509
11	lnc-ANKRD36C-1	chr2:96479798-96486944	NONHSAT072513
12	lnc-ANKRD36C-1	chr2:96480419-96480524	ENSG00000232931
13	lnc-TRIM43-2	chr2:96479803-96480574	NONHSAT072515
14	lnc-TRIM43-2	chr2:96477742-96477871	XLOC_001576
15	lnc-ANKRD36C-1	chr2:96472813-96473050	NONHSAT072510
16	lnc-ANKRD36C-1	chr2:96479657-96479705	ENSG00000232931
17	lnc-ANKRD36C-1	chr2:96479798-96482510	NONHSAT072510
18	lnc-GPAT2-6	chr2:96525609-96525822	NONHSAT072520
19	lnc-ANKRD36C-1	chr2:96479798-96479893	NONHSAT072509
20	lnc-TRIM43-2	chr2:96479581-96479705	XLOC_001576
21	lnc-ANKRD36C-1	chr2:96479798-96479893	ENSG00000232931
22	lnc-ANKRD36C-1	chr2:96479798-96482417	NONHSAT072514
23	lnc-ANKRD36C-1	chr2:96479174-96479284	NONHSAT072514
24	lnc-GPAT2-5	chr2:96557405-96557647	ucscGeneNc_uc002swd_1
25	lnc-TRIM43-2	chr2:96479687-96479710	NONHSAT072515
26	lnc-GPAT2-6	chr2:96533188-96533219	NONHSAT072520
27	lnc-ANKRD36C-1	chr2:96479064-96479281	ENSG00000232931

No data

Variant related genes	Relation type
LINC00342	TF binding region
ANKRD36C	TF binding region
SACS	miRNA target sites
KIF23	miRNA target sites

Extended variants
information (count: 4812 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:4812 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2315667	chr2:96465201-96465202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540191589	chr2:96465202-96465203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560000564	chr2:96465203-96465204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192174209	chr2:96465207-96465208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371561444	chr2:96465228-96465229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376710485	chr2:96465229-96465230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551998541	chr2:96465250-96465251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562332718	chr2:96465273-96465274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557291240	chr2:96465291-96465292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531532996	chr2:96465311-96465312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548162685	chr2:96465365-96465366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568315043	chr2:96465370-96465371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140699636	chr2:96465423-96465424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533952831	chr2:96465468-96465469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575672503	chr2:96465499-96465500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570905090	chr2:96465521-96465522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67216602	chr2:96465551-96465552	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556830762	chr2:96465554-96465555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541501832	chr2:96465603-96465604	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184057710	chr2:96465608-96465609	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536029977	chr2:96465641-96465642	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565067921	chr2:96465644-96465645	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555802722	chr2:96465676-96465677	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35666704	chr2:96465680-96465681	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187238072	chr2:96465693-96465694	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373313811	chr2:96465696-96465697	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112615382	chr2:96465714-96465715	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553725073	chr2:96465779-96465780	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191892203	chr2:96465788-96465789	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184376847	chr2:96465800-96465801	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562369513	chr2:96465802-96465803	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573483919	chr2:96465806-96465807	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548195316	chr2:96465811-96465812	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561840435	chr2:96465833-96465834	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs527583015	chr2:96465840-96465841	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547517314	chr2:96465848-96465849	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189358541	chr2:96465880-96465881	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533493894	chr2:96465903-96465904	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs550321735	chr2:96465909-96465910	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs570130825	chr2:96465916-96465917	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs536066039	chr2:96465934-96465935	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372988469	chr2:96465969-96465970	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs60852870	chr2:96465970-96465971	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190034713	chr2:96468207-96468208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550476080	chr2:96468224-96468225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376297974	chr2:96468249-96468250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569614470	chr2:96468511-96468512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537081826	chr2:96468569-96468570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137901145	chr2:96468627-96468628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555456398	chr2:96468737-96468738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1199 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96464800-96465400	Enhancers	Fetal Muscle Leg	muscle
2	chr2:96464800-96465800	Enhancers	Fetal Muscle Trunk	muscle
3	chr2:96465400-96465600	Weak transcription	Gastric	stomach
4	chr2:96465600-96466000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:96465800-96466000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:96468200-96481400	Weak transcription	Fetal Brain Male	brain
7	chr2:96469400-96472400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:96470000-96479000	Weak transcription	Ovary	ovary
9	chr2:96470000-96481800	Weak transcription	Primary T cells from cord blood	blood
10	chr2:96470200-96475400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:96470600-96482400	Weak transcription	Fetal Stomach	stomach
12	chr2:96470800-96471000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
13	chr2:96471000-96471200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr2:96471000-96471400	ZNF genes & repeats	Colon Smooth Muscle	Colon
15	chr2:96471000-96471600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr2:96471000-96471800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:96471000-96473600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:96471200-96471400	Weak transcription	Dnd41	blood
19	chr2:96471200-96481000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:96471200-96482000	Weak transcription	Fetal Lung	lung
21	chr2:96471200-96482200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:96471400-96471600	ZNF genes & repeats	Dnd41	blood
23	chr2:96471400-96471800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:96471400-96472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:96471400-96473600	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:96471400-96477400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:96471600-96472600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:96471600-96474600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:96471600-96482200	Weak transcription	Dnd41	blood
30	chr2:96471800-96474200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:96471800-96478800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:96471800-96480400	Weak transcription	Fetal Thymus	thymus
33	chr2:96471800-96480600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:96472000-96474800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:96472400-96472800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:96472600-96472800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr2:96472600-96482000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:96472800-96473800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr2:96472800-96479200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:96473800-96483400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:96476200-96482000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:96477000-96479600	Weak transcription	Aorta	Aorta
43	chr2:96477400-96480000	Weak transcription	Lung	lung
44	chr2:96478800-96479400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:96479000-96480200	Strong transcription	Ovary	ovary
46	chr2:96479200-96480200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:96479200-96480200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:96479400-96479800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:96479600-96479800	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:96479800-96480000	Enhancers	Fetal Muscle Leg	muscle

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