Variant report

Variant	esv1826589
Chromosome Location	chr2:96468292-96583910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:394)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:96517700-96517757	K562	blood:	n/a	n/a
2	ATF1	chr2:96521076-96521271	K562	blood:	n/a	n/a
3	BACH1	chr2:96492683-96492753	K562	blood:	n/a	n/a
4	BACH1	chr2:96526429-96526517	K562	blood:	n/a	n/a
5	BATF	chr2:96491153-96491435	GM12878	blood:	n/a	n/a
6	BATF	chr2:96533155-96533370	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:96533093-96533344	HepG2	liver:	n/a	n/a
8	BHLHE40	chr2:96557498-96557706	HepG2	liver:	n/a	n/a
9	BRCA1	chr2:96577237-96577420	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr2:96526629-96526661	GM12878	blood:	n/a	n/a
11	CEBPB	chr2:96479121-96479321	IMR90	lung:	n/a	n/a
12	CEBPB	chr2:96556161-96556364	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:96556081-96556287	IMR90	lung:	n/a	n/a
14	CEBPB	chr2:96482679-96482785	A549	lung:	n/a	n/a
15	CEBPB	chr2:96482692-96482778	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:96556160-96556378	A549	lung:	n/a	n/a
17	CEBPB	chr2:96577216-96577553	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr2:96576685-96576797	A549	lung:	n/a	n/a
19	CEBPB	chr2:96504906-96504952	HepG2	liver:	n/a	n/a
20	CHD2	chr2:96577302-96577508	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr2:96491893-96491972	Lung_OC	lung:	n/a	n/a
22	CTCF	chr2:96526660-96526810	AG10803	skin:	n/a	n/a
23	CTCF	chr2:96516220-96516370	AG04450	lung:	n/a	n/a
24	CTCF	chr2:96545735-96545764	GM10248	blood:	n/a	n/a
25	CTCF	chr2:96509419-96509475	Medullo	brain:	n/a	n/a
26	CTCF	chr2:96477702-96477778	LNCaP	prostate:	n/a	n/a
27	CTCF	chr2:96482935-96483090	GM10266	blood:	n/a	n/a
28	CTCF	chr2:96524280-96524430	AG04449	skin:	n/a	n/a
29	CTCF	chr2:96491532-96491573	GM13977	blood:	n/a	n/a
30	CTCF	chr2:96516103-96516174	GM13976	blood:	n/a	n/a
31	CTCF	chr2:96494215-96494281	LNCaP	prostate:	n/a	n/a
32	CTCF	chr2:96501792-96501821	GM10266	blood:	n/a	n/a
33	CTCF	chr2:96476313-96476420	Medullo	brain:	n/a	n/a
34	CTCF	chr2:96541814-96541903	GM10248	blood:	n/a	n/a
35	CUX1	chr2:96526654-96526665	GM12878	blood:	n/a	n/a
36	EP300	chr2:96577315-96577602	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr2:96566956-96567210	GM12878	blood:	n/a	n/a
38	EP300	chr2:96577216-96577620	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr2:96517655-96517844	Hela-S3	cervix:	n/a	chr2:96517665-96517672
40	EP300	chr2:96568292-96568601	GM12878	blood:	n/a	n/a
41	EP300	chr2:96517687-96517911	K562	blood:	n/a	n/a
42	EP300	chr2:96573873-96574217	GM12878	blood:	n/a	n/a
43	EP300	chr2:96549380-96549392	K562	blood:	n/a	n/a
44	EP300	chr2:96572572-96572826	GM12878	blood:	n/a	n/a
45	EP300	chr2:96577225-96577536	Hela-S3	cervix:	n/a	n/a
46	FOS	chr2:96577161-96577695	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:96560402-96560620	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
48	FOS	chr2:96580933-96581340	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
49	FOS	chr2:96579030-96579244	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:96580931-96581305	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089

No data

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

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

No data

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

Extended variants
information (count: 4063 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:4063 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569614470	chr2:96468511-96468512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537081826	chr2:96468569-96468570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137901145	chr2:96468627-96468628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555456398	chr2:96468737-96468738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572005258	chr2:96468741-96468742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562403913	chr2:96468753-96468754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57280165	chr2:96468756-96468757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1974770	chr2:96468824-96468825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs547648705	chr2:96468834-96468835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181363239	chr2:96468842-96468843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543724580	chr2:96468951-96468952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563700888	chr2:96468955-96468956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573998884	chr2:96469142-96469143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542618240	chr2:96469145-96469146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559805003	chr2:96469149-96469150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528527817	chr2:96469150-96469151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551601185	chr2:96469207-96469208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565123942	chr2:96469208-96469209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531140049	chr2:96469266-96469267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374424142	chr2:96469386-96469387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368894052	chr2:96469397-96469398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201085729	chr2:96469402-96469403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186057765	chr2:96469586-96469587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370937895	chr2:96469660-96469661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375778043	chr2:96469724-96469725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528891334	chr2:96469747-96469748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548656085	chr2:96469807-96469808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565815088	chr2:96469832-96469833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534696263	chr2:96469908-96469909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558017036	chr2:96469910-96469911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571445153	chr2:96469926-96469927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190830423	chr2:96469997-96469998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537213860	chr2:96470015-96470016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557235582	chr2:96470066-96470067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573809682	chr2:96470090-96470091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543009815	chr2:96470095-96470096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138467085	chr2:96470122-96470123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553084997	chr2:96470161-96470162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551106969	chr2:96470170-96470171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573323876	chr2:96470173-96470174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367988382	chr2:96470258-96470259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372196875	chr2:96470433-96470434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146996132	chr2:96470438-96470439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536681613	chr2:96470548-96470549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565013942	chr2:96470563-96470564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531025259	chr2:96470579-96470580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369736345	chr2:96470650-96470651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74962009	chr2:96470747-96470748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561631249	chr2:96470766-96470767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530326318	chr2:96470773-96470774	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:1046 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96468200-96481400	Weak transcription	Fetal Brain Male	brain
2	chr2:96469400-96472400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:96470000-96479000	Weak transcription	Ovary	ovary
4	chr2:96470000-96481800	Weak transcription	Primary T cells from cord blood	blood
5	chr2:96470200-96475400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:96470600-96482400	Weak transcription	Fetal Stomach	stomach
7	chr2:96470800-96471000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
8	chr2:96471000-96471200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr2:96471000-96471400	ZNF genes & repeats	Colon Smooth Muscle	Colon
10	chr2:96471000-96471600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr2:96471000-96471800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:96471000-96473600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:96471200-96471400	Weak transcription	Dnd41	blood
14	chr2:96471200-96481000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:96471200-96482000	Weak transcription	Fetal Lung	lung
16	chr2:96471200-96482200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:96471400-96471600	ZNF genes & repeats	Dnd41	blood
18	chr2:96471400-96471800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:96471400-96472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:96471400-96473600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:96471400-96477400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:96471600-96472600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:96471600-96474600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:96471600-96482200	Weak transcription	Dnd41	blood
25	chr2:96471800-96474200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:96471800-96478800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:96471800-96480400	Weak transcription	Fetal Thymus	thymus
28	chr2:96471800-96480600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:96472000-96474800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:96472400-96472800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:96472600-96472800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr2:96472600-96482000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:96472800-96473800	Strong transcription	Primary hematopoietic stem cells	blood
34	chr2:96472800-96479200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:96473800-96483400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:96476200-96482000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:96477000-96479600	Weak transcription	Aorta	Aorta
38	chr2:96477400-96480000	Weak transcription	Lung	lung
39	chr2:96478800-96479400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:96479000-96480200	Strong transcription	Ovary	ovary
41	chr2:96479200-96480200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:96479200-96480200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:96479400-96479800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:96479600-96479800	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:96479800-96480000	Enhancers	Fetal Muscle Leg	muscle
46	chr2:96480200-96480400	ZNF genes & repeats	Ovary	ovary
47	chr2:96480400-96480800	Weak transcription	Ovary	ovary
48	chr2:96483400-96483600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr2:96483400-96485600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:96483800-96484400	Weak transcription	Primary hematopoietic stem cells	blood

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