Variant report

Variant	esv1847850
Chromosome Location	chr2:96532929-96582175
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	BATF	chr2:96533155-96533370	GM12878	blood:	n/a	n/a
2	BHLHE40	chr2:96533093-96533344	HepG2	liver:	n/a	n/a
3	BHLHE40	chr2:96557498-96557706	HepG2	liver:	n/a	n/a
4	BRCA1	chr2:96577237-96577420	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr2:96556161-96556364	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:96576685-96576797	A549	lung:	n/a	n/a
7	CEBPB	chr2:96556081-96556287	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:96556160-96556378	A549	lung:	n/a	n/a
9	CEBPB	chr2:96577216-96577553	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr2:96577302-96577508	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr2:96545735-96545764	GM10248	blood:	n/a	n/a
12	CTCF	chr2:96541814-96541903	GM10248	blood:	n/a	n/a
13	EP300	chr2:96577315-96577602	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr2:96568292-96568601	GM12878	blood:	n/a	n/a
15	EP300	chr2:96577216-96577620	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr2:96572572-96572826	GM12878	blood:	n/a	n/a
17	EP300	chr2:96549380-96549392	K562	blood:	n/a	n/a
18	EP300	chr2:96573873-96574217	GM12878	blood:	n/a	n/a
19	EP300	chr2:96577225-96577536	Hela-S3	cervix:	n/a	n/a
20	EP300	chr2:96566956-96567210	GM12878	blood:	n/a	n/a
21	FOS	chr2:96579028-96579391	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr2:96560402-96560620	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
23	FOS	chr2:96579034-96579235	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr2:96579030-96579244	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr2:96577169-96577526	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr2:96560290-96560623	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
27	FOS	chr2:96580931-96581305	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
28	FOS	chr2:96577161-96577695	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr2:96577082-96577544	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr2:96580972-96581165	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
31	FOS	chr2:96577185-96577670	HUVEC	blood vessel:	n/a	n/a
32	FOS	chr2:96560409-96560601	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
33	FOS	chr2:96560296-96560618	HUVEC	blood vessel:	n/a	chr2:96560498-96560509
34	FOS	chr2:96577088-96577789	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr2:96580941-96581427	HUVEC	blood vessel:	n/a	chr2:96581078-96581089
36	FOS	chr2:96579028-96579244	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr2:96556602-96556919	HUVEC	blood vessel:	n/a	chr2:96556763-96556774
38	FOS	chr2:96580963-96581274	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
39	FOS	chr2:96560416-96560602	MCF10A-Er-Src	breast:	n/a	chr2:96560498-96560509
40	FOS	chr2:96580933-96581340	MCF10A-Er-Src	breast:	n/a	chr2:96581078-96581089
41	FOSL2	chr2:96575599-96576008	HepG2	liver:	n/a	n/a
42	FOSL2	chr2:96564575-96564881	HepG2	liver:	n/a	n/a
43	FOSL2	chr2:96566945-96567320	HepG2	liver:	n/a	n/a
44	FOSL2	chr2:96577169-96577501	SK-N-SH	brain:	n/a	n/a
45	FOSL2	chr2:96558444-96558688	HepG2	liver:	n/a	n/a
46	FOSL2	chr2:96577136-96577604	A549	lung:	n/a	n/a
47	FOSL2	chr2:96580961-96581260	A549	lung:	n/a	n/a
48	FOSL2	chr2:96564494-96564780	HepG2	liver:	n/a	n/a
49	FOSL2	chr2:96532934-96533488	HepG2	liver:	n/a	chr2:96532977-96532989
50	FOSL2	chr2:96558987-96559269	HepG2	liver:	n/a	n/a

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

Variant related genes	Relation type
ANKRD36C	TF binding region

Extended variants
information (count: 1538 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1538 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555274408	chr2:96532951-96532952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572163975	chr2:96532962-96532963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541005456	chr2:96532973-96532974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564400045	chr2:96532999-96533000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186513747	chr2:96533004-96533005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567392198	chr2:96533034-96533035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543430091	chr2:96533110-96533111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563317506	chr2:96533184-96533185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529351628	chr2:96533204-96533205	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs201253379	chr2:96533305-96533306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559738901	chr2:96533349-96533350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528683073	chr2:96533363-96533364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190511440	chr2:96533400-96533401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528564782	chr2:96533419-96533420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552266401	chr2:96533440-96533441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2463576	chr2:96533447-96533448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571954968	chr2:96533498-96533499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537705347	chr2:96533864-96533865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549822815	chr2:96533880-96533881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569622437	chr2:96533935-96533936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535205218	chr2:96534019-96534020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564144072	chr2:96534035-96534036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555430134	chr2:96534040-96534041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56414056	chr2:96534132-96534133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534792519	chr2:96534147-96534148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62156932	chr2:96534160-96534161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187076145	chr2:96534161-96534162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3927323	chr2:96534162-96534163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2696722	chr2:96534214-96534215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543269053	chr2:96534237-96534238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563352619	chr2:96534267-96534268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573689983	chr2:96534385-96534386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542802073	chr2:96534607-96534608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201807223	chr2:96534649-96534650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201353143	chr2:96534674-96534675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559777357	chr2:96534741-96534742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528712995	chr2:96534749-96534750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113110566	chr2:96534775-96534776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113096636	chr2:96534776-96534777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545599541	chr2:96534918-96534919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565449661	chr2:96534943-96534944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531233031	chr2:96534965-96534966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551253182	chr2:96534984-96534985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374697550	chr2:96535023-96535024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569706761	chr2:96535083-96535084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571349652	chr2:96535170-96535171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538946023	chr2:96535216-96535217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12052684	chr2:96535276-96535277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191160377	chr2:96535316-96535317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183422349	chr2:96535323-96535324	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:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96500600-96553400	Weak transcription	Brain Anterior Caudate	brain
2	chr2:96502600-96547800	Weak transcription	Fetal Thymus	thymus
3	chr2:96502600-96561400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:96502800-96533800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:96502800-96535600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:96502800-96548400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:96502800-96548600	Weak transcription	Thymus	Thymus
8	chr2:96502800-96551400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:96502800-96555200	Weak transcription	Ovary	ovary
10	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
11	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
12	chr2:96503000-96563600	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:96503200-96544400	Weak transcription	Primary T cells from cord blood	blood
14	chr2:96503200-96548800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:96506200-96549400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:96506600-96562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:96516000-96534600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:96516200-96548400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:96516200-96549200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:96516800-96548600	Weak transcription	Adipose Nuclei	Adipose
21	chr2:96516800-96553400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:96518800-96544200	Weak transcription	Dnd41	blood
23	chr2:96521800-96535400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:96521800-96536000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:96521800-96537600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:96521800-96548600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:96521800-96548600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:96521800-96548600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:96521800-96555600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:96524400-96548600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:96525200-96548600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:96526600-96534000	Weak transcription	Primary B cells from cord blood	blood
33	chr2:96526600-96534400	Weak transcription	Psoas Muscle	Psoas
34	chr2:96526600-96535400	Weak transcription	Fetal Lung	lung
35	chr2:96526600-96536600	Weak transcription	Gastric	stomach
36	chr2:96526600-96548600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:96526600-96549400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:96526600-96555200	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:96526800-96553000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:96526800-96555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:96526800-96557600	Weak transcription	NHDF-Ad	bronchial
42	chr2:96527800-96540800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:96527800-96554000	Weak transcription	HUVEC	blood vessel
44	chr2:96528600-96555600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:96528600-96560000	Weak transcription	Fetal Intestine Large	intestine
46	chr2:96528800-96535400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:96530600-96548600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:96530600-96555200	Weak transcription	Fetal Brain Female	brain
49	chr2:96530800-96535400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:96531200-96557800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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