Variant report

Variant	nsv961643
Chromosome Location	chr2:114375499-114381866
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	chr2:114381555-114381747	GM12878	blood:	n/a	n/a
2	BATF	chr2:114381240-114381532	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:114381108-114381508	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:114377588-114377832	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:114378501-114378802	GM12878	blood:	n/a	n/a
6	BCL11A	chr2:114381251-114381571	GM12878	blood:	n/a	n/a
7	BCL3	chr2:114378601-114378818	GM12878	blood:	n/a	n/a
8	EBF1	chr2:114378531-114378731	GM12878	blood:	n/a	chr2:114378685-114378696
9	EP300	chr2:114381291-114381492	GM12878	blood:	n/a	n/a
10	EP300	chr2:114378551-114378564	GM12878	blood:	n/a	n/a
11	FOS	chr2:114378709-114378896	MCF10A-Er-Src	breast:	n/a	chr2:114378834-114378845 chr2:114378832-114378843
12	FOSL2	chr2:114381065-114381529	HepG2	liver:	n/a	chr2:114381345-114381354 chr2:114381344-114381355 chr2:114381343-114381350
13	FOSL2	chr2:114381097-114381577	HepG2	liver:	n/a	chr2:114381345-114381354 chr2:114381344-114381355 chr2:114381343-114381350
14	FOXA1	chr2:114381524-114382054	HepG2	liver:	n/a	n/a
15	FOXA1	chr2:114379927-114380183	HepG2	liver:	n/a	n/a
16	GABPA	chr2:114381230-114381565	Hela-S3	cervix:	n/a	n/a
17	GATA2	chr2:114380884-114381705	K562	blood:	n/a	chr2:114381343-114381352
18	HEY1	chr2:114381223-114381555	K562	blood:	n/a	n/a
19	IRF4	chr2:114375575-114375904	GM12878	blood:	n/a	n/a
20	IRF4	chr2:114381061-114381880	GM12878	blood:	n/a	n/a
21	JUND	chr2:114381279-114381449	HepG2	liver:	n/a	chr2:114381345-114381354 chr2:114381344-114381355 chr2:114381343-114381350
22	JUND	chr2:114381148-114381478	HepG2	liver:	n/a	chr2:114381345-114381354 chr2:114381344-114381355 chr2:114381343-114381350
23	MAFF	chr2:114380877-114380881	HepG2	liver:	n/a	n/a
24	MAFF	chr2:114380778-114380989	K562	blood:	n/a	chr2:114380896-114380914
25	MAFK	chr2:114380813-114381069	IMR90	lung:	n/a	chr2:114380898-114380913
26	MAFK	chr2:114380859-114381029	HepG2	liver:	n/a	chr2:114380898-114380913
27	MAFK	chr2:114380867-114380973	K562	blood:	n/a	chr2:114380898-114380913
28	MAFK	chr2:114380811-114381062	HepG2	liver:	n/a	chr2:114380898-114380913
29	MYC	chr2:114378683-114378907	MCF10A-Er-Src	breast:	n/a	chr2:114378758-114378768 chr2:114378757-114378767 chr2:114378756-114378769 chr2:114378758-114378768 chr2:114378757-114378768 chr2:114378757-114378767 chr2:114378756-114378769 chr2:114378758-114378767
30	MYC	chr2:114378684-114378907	MCF10A-Er-Src	breast:	n/a	chr2:114378758-114378768 chr2:114378757-114378767 chr2:114378756-114378769 chr2:114378758-114378768 chr2:114378757-114378768 chr2:114378757-114378767 chr2:114378756-114378769 chr2:114378758-114378767
31	PAX5	chr2:114381227-114381494	GM12878	blood:	n/a	n/a
32	PAX5	chr2:114381243-114381486	GM12878	blood:	n/a	n/a
33	PAX5	chr2:114381071-114381530	GM12878	blood:	n/a	n/a
34	PAX5	chr2:114376989-114377514	GM12878	blood:	n/a	n/a
35	PAX5	chr2:114378409-114378858	GM12878	blood:	n/a	n/a
36	PBX3	chr2:114381088-114381534	GM12878	blood:	n/a	n/a
37	PBX3	chr2:114378572-114378690	GM12878	blood:	n/a	n/a
38	PBX3	chr2:114381197-114381440	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:114380914-114381603	U87	brain:	n/a	n/a
40	POLR2A	chr2:114381197-114381546	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:114381023-114381527	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr2:114381106-114381507	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr2:114381082-114381615	U87	brain:	n/a	n/a
44	POLR2A	chr2:114381064-114381584	GM12878	blood:	n/a	n/a
45	POU2F2	chr2:114380913-114381662	GM12878	blood:	n/a	chr2:114381528-114381536 chr2:114381523-114381541 chr2:114381524-114381539 chr2:114381527-114381537 chr2:114381527-114381538 chr2:114381527-114381538
46	POU2F2	chr2:114381201-114381476	GM12878	blood:	n/a	n/a
47	POU2F2	chr2:114376968-114377390	GM12878	blood:	n/a	n/a
48	POU2F2	chr2:114378453-114378965	GM12878	blood:	n/a	n/a
49	POU2F2	chr2:114375661-114375800	GM12878	blood:	n/a	chr2:114375785-114375798 chr2:114375785-114375798 chr2:114375785-114375798
50	RUNX3	chr2:114378422-114378763	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35F5-14	chr2:114379645-114379738	NONHSAT073823
2	lnc-SLC35F5-14	chr2:114379303-114379593	NONHSAT073820
3	lnc-SLC35F5-14	chr2:114379303-114379593	NONHSAT073821
4	lnc-SLC35F5-14	chr2:114379690-114379738	NONHSAT073822
5	lnc-SLC35F5-14	chr2:114379690-114379738	NONHSAT073821
6	lnc-SLC35F5-14	chr2:114379409-114379596	NONHSAT073822

Variant related genes	Relation type
RABL2A	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553065084	chr2:114375517-114375518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572913047	chr2:114375520-114375521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535268845	chr2:114375523-114375524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555568649	chr2:114375556-114375557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373819118	chr2:114375576-114375577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200653173	chr2:114375606-114375607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553510405	chr2:114375994-114375995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149161132	chr2:114376266-114376267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367673947	chr2:114376336-114376337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146637356	chr2:114376459-114376460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575433932	chr2:114376513-114376514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373884122	chr2:114376554-114376555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544141810	chr2:114376558-114376559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563340203	chr2:114376562-114376563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201787547	chr2:114376799-114376800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201885853	chr2:114376885-114376886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368400438	chr2:114377046-114377047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189438254	chr2:114377288-114377289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371832500	chr2:114377443-114377444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376432205	chr2:114377535-114377536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201498668	chr2:114377537-114377538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565645600	chr2:114377907-114377908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545801064	chr2:114377987-114377988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112003293	chr2:114378015-114378016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559552756	chr2:114378023-114378024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548473447	chr2:114378035-114378036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562338163	chr2:114378064-114378065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372789374	chr2:114378211-114378212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192483549	chr2:114378250-114378251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183646097	chr2:114378259-114378260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571162256	chr2:114378310-114378311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374962170	chr2:114378427-114378428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142817517	chr2:114378452-114378453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546642382	chr2:114378478-114378479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566425609	chr2:114378534-114378535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535574098	chr2:114378535-114378536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147400209	chr2:114378563-114378564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114285188	chr2:114378569-114378570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575442791	chr2:114378571-114378572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562287805	chr2:114378598-114378599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537654219	chr2:114378620-114378621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2922398	chr2:114378687-114378688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557591913	chr2:114378695-114378696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577530250	chr2:114378696-114378697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149903299	chr2:114378794-114378795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143899038	chr2:114378823-114378824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573241614	chr2:114378879-114378880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542347223	chr2:114378938-114378939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562136902	chr2:114378939-114378940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200666669	chr2:114378969-114378970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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	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
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114361800-114383000	Weak transcription	Fetal Lung	lung
2	chr2:114361800-114383000	Weak transcription	Right Ventricle	heart
3	chr2:114361800-114383600	Weak transcription	Liver	Liver
4	chr2:114361800-114383600	Weak transcription	Fetal Stomach	stomach
5	chr2:114362200-114380800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:114362200-114382800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:114362200-114383000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:114362200-114383600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:114362600-114382800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:114362600-114383200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:114362800-114382800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:114367400-114383800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:114369800-114383000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:114375400-114383600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:114376800-114383600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:114377000-114384200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:114377000-114384200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:114377800-114383000	Weak transcription	Fetal Thymus	thymus
19	chr2:114378000-114382600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:114378200-114383600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:114378200-114385600	Weak transcription	Spleen	Spleen
22	chr2:114378400-114383000	Weak transcription	Pancreas	Pancrea
23	chr2:114378400-114383000	Weak transcription	HepG2	liver
24	chr2:114378600-114383000	Weak transcription	Adipose Nuclei	Adipose
25	chr2:114378600-114383600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:114378600-114383600	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:114380800-114381000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:114380800-114381200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:114380800-114381200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:114380800-114381200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:114380800-114383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:114380800-114383600	Weak transcription	Brain Anterior Caudate	brain
33	chr2:114381000-114382600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:114381000-114390400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:114381200-114383000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:114381200-114383000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:114381200-114383000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:114381600-114383000	Weak transcription	Fetal Brain Female	brain

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