Variant report

Variant	esv1848259
Chromosome Location	chr2:96477989-96583252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:389)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:389 , 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	chr2:96526429-96526517	K562	blood:	n/a	n/a
4	BACH1	chr2:96492683-96492753	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	chr2:96482679-96482785	A549	lung:	n/a	n/a
12	CEBPB	chr2:96556081-96556287	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:96556161-96556364	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:96504906-96504952	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:96482692-96482778	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:96479121-96479321	IMR90	lung:	n/a	n/a
17	CEBPB	chr2:96576685-96576797	A549	lung:	n/a	n/a
18	CEBPB	chr2:96556160-96556378	A549	lung:	n/a	n/a
19	CEBPB	chr2:96577216-96577553	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr2:96577302-96577508	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr2:96516220-96516370	AG04450	lung:	n/a	n/a
22	CTCF	chr2:96524280-96524430	AG04449	skin:	n/a	n/a
23	CTCF	chr2:96491532-96491573	GM13977	blood:	n/a	n/a
24	CTCF	chr2:96541814-96541903	GM10248	blood:	n/a	n/a
25	CTCF	chr2:96516103-96516174	GM13976	blood:	n/a	n/a
26	CTCF	chr2:96494215-96494281	LNCaP	prostate:	n/a	n/a
27	CTCF	chr2:96482935-96483090	GM10266	blood:	n/a	n/a
28	CTCF	chr2:96509419-96509475	Medullo	brain:	n/a	n/a
29	CTCF	chr2:96491893-96491972	Lung_OC	lung:	n/a	n/a
30	CTCF	chr2:96501792-96501821	GM10266	blood:	n/a	n/a
31	CTCF	chr2:96526660-96526810	AG10803	skin:	n/a	n/a
32	CTCF	chr2:96545735-96545764	GM10248	blood:	n/a	n/a
33	CUX1	chr2:96526654-96526665	GM12878	blood:	n/a	n/a
34	EP300	chr2:96517655-96517844	Hela-S3	cervix:	n/a	chr2:96517665-96517672
35	EP300	chr2:96577315-96577602	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr2:96572572-96572826	GM12878	blood:	n/a	n/a
37	EP300	chr2:96577216-96577620	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr2:96577225-96577536	Hela-S3	cervix:	n/a	n/a
39	EP300	chr2:96568292-96568601	GM12878	blood:	n/a	n/a
40	EP300	chr2:96517687-96517911	K562	blood:	n/a	n/a
41	EP300	chr2:96549380-96549392	K562	blood:	n/a	n/a
42	EP300	chr2:96573873-96574217	GM12878	blood:	n/a	n/a
43	EP300	chr2:96566956-96567210	GM12878	blood:	n/a	n/a
44	FOS	chr2:96560290-96560623	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
45	FOS	chr2:96579030-96579244	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr2:96577169-96577526	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:96582747-96583240	HUVEC	blood vessel:	n/a	chr2:96582941-96582952
48	FOS	chr2:96577161-96577695	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:96580941-96581427	HUVEC	blood vessel:	n/a	chr2:96581078-96581089
50	FOS	chr2:96579028-96579244	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 3739 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:3739 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543246205	chr2:96477991-96477992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4062980	chr2:96478008-96478009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4062979	chr2:96478024-96478025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559502480	chr2:96478029-96478030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2315429	chr2:96478060-96478061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200691989	chr2:96478092-96478093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4062978	chr2:96478147-96478148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2315428	chr2:96478187-96478188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2315427	chr2:96478193-96478194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2315426	chr2:96478206-96478207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528784977	chr2:96478258-96478259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371350131	chr2:96478275-96478276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374434871	chr2:96478284-96478285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202135786	chr2:96478309-96478310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146884649	chr2:96478310-96478311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200339226	chr2:96478312-96478313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111780303	chr2:96478372-96478373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201330654	chr2:96478373-96478374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532946494	chr2:96478378-96478379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549510495	chr2:96478384-96478385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62155741	chr2:96478434-96478435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569775693	chr2:96478455-96478456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148998058	chr2:96478457-96478458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2463551	chr2:96478496-96478497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555630887	chr2:96478526-96478527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4095721	chr2:96478593-96478594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565906389	chr2:96478699-96478700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534777687	chr2:96478735-96478736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376885762	chr2:96478746-96478747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62155742	chr2:96478779-96478780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199529052	chr2:96478896-96478897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553113264	chr2:96478923-96478924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184755223	chr2:96478949-96478950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577867041	chr2:96479040-96479041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143029198	chr2:96479041-96479042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545303679	chr2:96479076-96479077	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs543843065	chr2:96479153-96479154	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs563527810	chr2:96479156-96479157	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs557065758	chr2:96479159-96479160	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs151142377	chr2:96479196-96479197	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs4118112	chr2:96479256-96479257	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs542732621	chr2:96479309-96479310	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs559392124	chr2:96479331-96479332	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs3968773	chr2:96479378-96479379	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs528674655	chr2:96479430-96479431	Enhancers Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs545152601	chr2:96479490-96479491	Enhancers Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs565284631	chr2:96479553-96479554	Enhancers Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs4062995	chr2:96479573-96479574	Enhancers Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs200229845	chr2:96479587-96479588	Enhancers Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs4062994	chr2:96479620-96479621	Enhancers Weak transcription ZNF genes & repeats Strong transcription	lncRNA	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:1012 , 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	chr2:96470000-96479000	Weak transcription	Ovary	ovary
3	chr2:96470000-96481800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:96470600-96482400	Weak transcription	Fetal Stomach	stomach
5	chr2:96471200-96481000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:96471200-96482000	Weak transcription	Fetal Lung	lung
7	chr2:96471200-96482200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:96471600-96482200	Weak transcription	Dnd41	blood
9	chr2:96471800-96478800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:96471800-96480400	Weak transcription	Fetal Thymus	thymus
11	chr2:96471800-96480600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:96472600-96482000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:96472800-96479200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:96473800-96483400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:96476200-96482000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:96477000-96479600	Weak transcription	Aorta	Aorta
17	chr2:96477400-96480000	Weak transcription	Lung	lung
18	chr2:96478800-96479400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:96479000-96480200	Strong transcription	Ovary	ovary
20	chr2:96479200-96480200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:96479200-96480200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:96479400-96479800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:96479600-96479800	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:96479800-96480000	Enhancers	Fetal Muscle Leg	muscle
25	chr2:96480200-96480400	ZNF genes & repeats	Ovary	ovary
26	chr2:96480400-96480800	Weak transcription	Ovary	ovary
27	chr2:96483400-96483600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr2:96483400-96485600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:96483800-96484400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:96491400-96492000	ZNF genes & repeats	Stomach Mucosa	stomach
31	chr2:96491600-96493000	Weak transcription	HSMM	muscle
32	chr2:96491600-96494200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:96491800-96495400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:96492000-96494200	Weak transcription	Right Ventricle	heart
35	chr2:96492000-96494800	Weak transcription	Stomach Mucosa	stomach
36	chr2:96492200-96493800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:96492200-96496000	Weak transcription	Fetal Heart	heart
38	chr2:96492400-96495200	Weak transcription	Pancreas	Pancrea
39	chr2:96492600-96495000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:96492800-96493000	Weak transcription	Fetal Kidney	kidney
41	chr2:96492800-96494200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:96492800-96494400	Weak transcription	Brain Angular Gyrus	brain
43	chr2:96493000-96493200	ZNF genes & repeats	Fetal Kidney	kidney
44	chr2:96493000-96494200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:96493000-96495000	Strong transcription	HSMM	muscle
46	chr2:96493000-96506400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:96493200-96496000	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:96493200-96498000	Weak transcription	Fetal Kidney	kidney
49	chr2:96493200-96502000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:96493400-96493600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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