Variant report

Variant	nsv10093
Chromosome Location	chr2:96524159-96583335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:96526429-96526517	K562	blood:	n/a	n/a
2	BATF	chr2:96533155-96533370	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:96557498-96557706	HepG2	liver:	n/a	n/a
4	BHLHE40	chr2:96533093-96533344	HepG2	liver:	n/a	n/a
5	BRCA1	chr2:96526629-96526661	GM12878	blood:	n/a	n/a
6	BRCA1	chr2:96577237-96577420	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:96576685-96576797	A549	lung:	n/a	n/a
8	CEBPB	chr2:96556161-96556364	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:96556081-96556287	IMR90	lung:	n/a	n/a
10	CEBPB	chr2:96556160-96556378	A549	lung:	n/a	n/a
11	CEBPB	chr2:96577216-96577553	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr2:96577302-96577508	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr2:96526660-96526810	AG10803	skin:	n/a	n/a
14	CTCF	chr2:96545735-96545764	GM10248	blood:	n/a	n/a
15	CTCF	chr2:96541814-96541903	GM10248	blood:	n/a	n/a
16	CTCF	chr2:96524280-96524430	AG04449	skin:	n/a	n/a
17	CUX1	chr2:96526654-96526665	GM12878	blood:	n/a	n/a
18	EP300	chr2:96577216-96577620	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr2:96568292-96568601	GM12878	blood:	n/a	n/a
20	EP300	chr2:96577225-96577536	Hela-S3	cervix:	n/a	n/a
21	EP300	chr2:96549380-96549392	K562	blood:	n/a	n/a
22	EP300	chr2:96573873-96574217	GM12878	blood:	n/a	n/a
23	EP300	chr2:96572572-96572826	GM12878	blood:	n/a	n/a
24	EP300	chr2:96566956-96567210	GM12878	blood:	n/a	n/a
25	EP300	chr2:96577315-96577602	SK-N-SH_RA	brain:	n/a	n/a
26	FOS	chr2:96577169-96577526	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr2:96560416-96560602	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
28	FOS	chr2:96582747-96583240	HUVEC	blood vessel:	n/a	chr2:96582941-96582952
29	FOS	chr2:96577088-96577789	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr2:96577185-96577670	HUVEC	blood vessel:	n/a	n/a
31	FOS	chr2:96560402-96560620	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
32	FOS	chr2:96579034-96579235	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr2:96579028-96579244	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr2:96577082-96577544	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr2:96580941-96581427	HUVEC	blood vessel:	n/a	chr2:96581078-96581089
36	FOS	chr2:96580972-96581165	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
37	FOS	chr2:96580933-96581340	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
38	FOS	chr2:96560296-96560618	HUVEC	blood vessel:	n/a	chr2:96560498-96560509
39	FOS	chr2:96580931-96581305	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
40	FOS	chr2:96577161-96577695	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr2:96579030-96579244	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr2:96560409-96560601	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
43	FOS	chr2:96579028-96579391	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr2:96556602-96556919	HUVEC	blood vessel:	n/a	chr2:96556763-96556774
45	FOS	chr2:96560290-96560623	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
46	FOS	chr2:96580963-96581274	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
47	FOSL2	chr2:96558444-96558688	HepG2	liver:	n/a	n/a
48	FOSL2	chr2:96570110-96570396	HepG2	liver:	n/a	n/a
49	FOSL2	chr2:96532993-96533482	HepG2	liver:	n/a	n/a
50	FOSL2	chr2:96564575-96564881	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPAT2-6	chr2:96525609-96525822	NONHSAT072520
2	lnc-GPAT2-5	chr2:96561691-96561770	ucscGeneNc_uc002swd_1
3	lnc-GPAT2-6	chr2:96533188-96533219	NONHSAT072520
4	lnc-GPAT2-5	chr2:96559198-96559313	ucscGeneNc_uc002swd_1
5	lnc-GPAT2-5	chr2:96557405-96557647	ucscGeneNc_uc002swd_1

Variant related genes	Relation type
ANKRD36C	TF binding region

Extended variants
information (count: 1994 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1994 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565638254	chr2:96524160-96524161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534420100	chr2:96524161-96524162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557829577	chr2:96524167-96524168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76071218	chr2:96524185-96524186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75273315	chr2:96524201-96524202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150287453	chr2:96524205-96524206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75345119	chr2:96524215-96524216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13388030	chr2:96524218-96524219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73958139	chr2:96524224-96524225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536833000	chr2:96524234-96524235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13388036	chr2:96524237-96524238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75582530	chr2:96524264-96524265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556864185	chr2:96524265-96524266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13423121	chr2:96524274-96524275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62156915	chr2:96524305-96524306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35397199	chr2:96524322-96524323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398090483	chr2:96524324-96524325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13385366	chr2:96524362-96524363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200358016	chr2:96524407-96524408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2463581	chr2:96524410-96524411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62156916	chr2:96524431-96524432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62156917	chr2:96524450-96524451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542479388	chr2:96524451-96524452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149808120	chr2:96524467-96524468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559498746	chr2:96524469-96524470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79594370	chr2:96524471-96524472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs66996277	chr2:96524473-96524474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs66878822	chr2:96524475-96524476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573144337	chr2:96524482-96524483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79097908	chr2:96524483-96524484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541697055	chr2:96524499-96524500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545219279	chr2:96524505-96524506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144203137	chr2:96524539-96524540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565370925	chr2:96524545-96524546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376333693	chr2:96524552-96524553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140979523	chr2:96524557-96524558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144831037	chr2:96524569-96524570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141673550	chr2:96524570-96524571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140216108	chr2:96524584-96524585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200784329	chr2:96524598-96524599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199782092	chr2:96524601-96524602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201779412	chr2:96524605-96524606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531048895	chr2:96524607-96524608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199617588	chr2:96524643-96524644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551175434	chr2:96524645-96524646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12621859	chr2:96524663-96524664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72823933	chr2:96524698-96524699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563504070	chr2:96524700-96524701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79082060	chr2:96524705-96524706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111528793	chr2:96524707-96524708	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:560 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96495000-96532800	Weak transcription	HSMM	muscle
2	chr2:96500600-96553400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:96501000-96526400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:96501600-96526400	Weak transcription	Gastric	stomach
5	chr2:96501800-96524200	Weak transcription	K562	blood
6	chr2:96502600-96547800	Weak transcription	Fetal Thymus	thymus
7	chr2:96502600-96561400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:96502800-96524800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:96502800-96526400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:96502800-96527400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:96502800-96533800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:96502800-96535600	Weak transcription	Brain Germinal Matrix	brain
13	chr2:96502800-96548400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:96502800-96548600	Weak transcription	Thymus	Thymus
15	chr2:96502800-96551400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:96502800-96555200	Weak transcription	Ovary	ovary
17	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
18	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
19	chr2:96503000-96563600	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:96503200-96544400	Weak transcription	Primary T cells from cord blood	blood
21	chr2:96503200-96548800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:96506200-96549400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:96506600-96562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:96514000-96526400	Weak transcription	Psoas Muscle	Psoas
25	chr2:96516000-96534600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:96516200-96548400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:96516200-96549200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:96516400-96526400	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:96516800-96548600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:96516800-96553400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:96518000-96526400	Weak transcription	HUVEC	blood vessel
32	chr2:96518600-96526400	Weak transcription	Primary B cells from cord blood	blood
33	chr2:96518800-96544200	Weak transcription	Dnd41	blood
34	chr2:96521600-96532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:96521800-96524200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:96521800-96528600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:96521800-96535400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:96521800-96536000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:96521800-96537600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:96521800-96548600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:96521800-96548600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:96521800-96548600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:96521800-96555600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:96522600-96526400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:96522600-96526400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:96524400-96548600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:96524800-96525200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
48	chr2:96525200-96548600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:96525800-96526200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:96526200-96526600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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