Variant report

Variant	nsv821038
Chromosome Location	chr2:96515590-96527840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

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	BRCA1	chr2:96526629-96526661	GM12878	blood:	n/a	n/a
5	CTCF	chr2:96516220-96516370	AG04450	lung:	n/a	n/a
6	CTCF	chr2:96516103-96516174	GM13976	blood:	n/a	n/a
7	CTCF	chr2:96526660-96526810	AG10803	skin:	n/a	n/a
8	CTCF	chr2:96524280-96524430	AG04449	skin:	n/a	n/a
9	CUX1	chr2:96526654-96526665	GM12878	blood:	n/a	n/a
10	EP300	chr2:96517655-96517844	Hela-S3	cervix:	n/a	chr2:96517665-96517672
11	EP300	chr2:96517687-96517911	K562	blood:	n/a	n/a
12	FOSL2	chr2:96516074-96516463	HepG2	liver:	n/a	n/a
13	FOSL2	chr2:96519970-96520300	HepG2	liver:	n/a	n/a
14	GATA2	chr2:96526144-96526698	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr2:96526144-96526688	SH-SY5Y	brain:	n/a	n/a
16	IRF1	chr2:96521091-96521151	K562	blood:	n/a	n/a
17	IRF3	chr2:96526626-96526663	GM12878	blood:	n/a	n/a
18	IRF4	chr2:96516152-96516553	GM12878	blood:	n/a	n/a
19	JUND	chr2:96517012-96517214	HepG2	liver:	n/a	n/a
20	MAFF	chr2:96521090-96521290	HepG2	liver:	n/a	n/a
21	MAFK	chr2:96521091-96521325	HepG2	liver:	n/a	n/a
22	MAZ	chr2:96521267-96521283	K562	blood:	n/a	n/a
23	MXI1	chr2:96524361-96524455	GM12878	blood:	n/a	n/a
24	PAX5	chr2:96526083-96526302	GM12878	blood:	n/a	n/a
25	POU2F2	chr2:96515969-96516497	GM12878	blood:	n/a	n/a
26	POU2F2	chr2:96526030-96526378	GM12878	blood:	n/a	n/a
27	RCOR1	chr2:96526464-96526556	K562	blood:	n/a	n/a
28	SIN3AK20	chr2:96522195-96522382	HepG2	liver:	n/a	n/a
29	SIX5	chr2:96518070-96518381	K562	blood:	n/a	n/a
30	SP1	chr2:96527591-96527685	HepG2	liver:	n/a	n/a
31	SP1	chr2:96519606-96519890	HepG2	liver:	n/a	n/a
32	SP1	chr2:96521069-96521357	GM12878	blood:	n/a	n/a
33	SP1	chr2:96515954-96516242	HepG2	liver:	n/a	n/a
34	SP1	chr2:96518518-96518799	GM12878	blood:	n/a	n/a
35	SP1	chr2:96519998-96520260	HepG2	liver:	n/a	n/a
36	STAT3	chr2:96521080-96521441	MCF10A-Er-Src	breast:	n/a	n/a
37	TBL1XR1	chr2:96522442-96522648	K562	blood:	n/a	n/a
38	TBL1XR1	chr2:96521110-96521151	K562	blood:	n/a	n/a
39	TCF12	chr2:96516161-96516434	HepG2	liver:	n/a	n/a
40	TCF7L2	chr2:96524225-96524425	HepG2	liver:	n/a	n/a
41	TCF7L2	chr2:96526513-96526978	HepG2	liver:	n/a	n/a
42	USF1	chr2:96526165-96526297	HepG2	liver:	n/a	n/a
43	USF1	chr2:96520093-96520238	HepG2	liver:	n/a	n/a
44	USF1	chr2:96521276-96521439	HepG2	liver:	n/a	n/a
45	ZBTB33	chr2:96516962-96517227	K562	blood:	n/a	n/a
46	ZBTB33	chr2:96526126-96526292	HepG2	liver:	n/a	n/a
47	ZBTB33	chr2:96519928-96520281	HepG2	liver:	n/a	n/a
48	ZBTB33	chr2:96525973-96526355	HepG2	liver:	n/a	n/a
49	ZBTB33	chr2:96516256-96516386	HepG2	liver:	n/a	n/a
50	ZBTB33	chr2:96515825-96516469	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPAT2-6	chr2:96523088-96523240	NONHSAT072520
2	lnc-GPAT2-6	chr2:96525609-96525822	NONHSAT072520

No data

Variant related genes	Relation type
ANKRD36C	TF binding region

Extended variants
information (count: 943 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:943 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548944192	chr2:96515596-96515597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565708982	chr2:96515666-96515667	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534807717	chr2:96515685-96515686	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs74263737	chr2:96515689-96515690	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs74263738	chr2:96515695-96515696	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs77467809	chr2:96515700-96515701	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs77555399	chr2:96515735-96515736	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs77856318	chr2:96515736-96515737	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62155753	chr2:96515750-96515751	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs76830975	chr2:96515752-96515753	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78409181	chr2:96515761-96515762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551420067	chr2:96515766-96515767	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558584481	chr2:96515784-96515785	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571815724	chr2:96515796-96515797	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62155754	chr2:96515798-96515799	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62155755	chr2:96515815-96515816	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs146565378	chr2:96515830-96515831	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs62155756	chr2:96515840-96515841	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537245952	chr2:96515881-96515882	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs62155757	chr2:96515906-96515907	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs557676782	chr2:96515917-96515918	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs370987373	chr2:96515919-96515920	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs567847424	chr2:96515960-96515961	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs74477479	chr2:96516005-96516006	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62155758	chr2:96516007-96516008	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200417785	chr2:96516014-96516015	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375584098	chr2:96516025-96516026	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62155759	chr2:96516026-96516027	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs199868776	chr2:96516029-96516030	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62156860	chr2:96516050-96516051	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs367558299	chr2:96516058-96516059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370410038	chr2:96516059-96516060	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs371398260	chr2:96516063-96516064	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535474602	chr2:96516065-96516066	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs199644828	chr2:96516069-96516070	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs78777530	chr2:96516082-96516083	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs78859265	chr2:96516084-96516085	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs76815570	chr2:96516096-96516097	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs2950717	chr2:96516107-96516108	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs76247638	chr2:96516117-96516118	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76348203	chr2:96516118-96516119	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs77072698	chr2:96516125-96516126	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs199843050	chr2:96516163-96516164	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs557670562	chr2:96516173-96516174	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201143760	chr2:96516182-96516183	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs367859697	chr2:96516184-96516185	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs372501645	chr2:96516195-96516196	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555426758	chr2:96516203-96516204	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs372145677	chr2:96516206-96516207	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs572038860	chr2:96516237-96516238	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96494200-96517600	Weak transcription	HUVEC	blood vessel
2	chr2:96494600-96515800	Weak transcription	Fetal Brain Male	brain
3	chr2:96495000-96523200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:96495000-96532800	Weak transcription	HSMM	muscle
5	chr2:96495600-96515800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:96496400-96515600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:96496600-96521200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:96497000-96515800	Weak transcription	Fetal Lung	lung
9	chr2:96497000-96515800	Weak transcription	NHEK	skin
10	chr2:96497400-96521200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:96497800-96515800	Weak transcription	HSMMtube	muscle
12	chr2:96500200-96522000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:96500600-96553400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:96500800-96516000	Weak transcription	Fetal Intestine Large	intestine
15	chr2:96500800-96521000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:96500800-96521600	Weak transcription	Aorta	Aorta
17	chr2:96501000-96519400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:96501000-96526400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:96501600-96526400	Weak transcription	Gastric	stomach
20	chr2:96501800-96524200	Weak transcription	K562	blood
21	chr2:96502600-96523000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:96502600-96547800	Weak transcription	Fetal Thymus	thymus
23	chr2:96502600-96561400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:96502800-96515600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:96502800-96515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:96502800-96515800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:96502800-96517400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:96502800-96518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:96502800-96521200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:96502800-96522200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:96502800-96524800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:96502800-96526400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:96502800-96527400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:96502800-96533800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:96502800-96535600	Weak transcription	Brain Germinal Matrix	brain
36	chr2:96502800-96548400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:96502800-96548600	Weak transcription	Thymus	Thymus
38	chr2:96502800-96551400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:96502800-96555200	Weak transcription	Ovary	ovary
40	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
41	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
42	chr2:96503000-96515600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:96503000-96515600	Weak transcription	Adipose Nuclei	Adipose
44	chr2:96503000-96519800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:96503000-96521400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:96503000-96563600	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:96503200-96515600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:96503200-96515600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:96503200-96544400	Weak transcription	Primary T cells from cord blood	blood
50	chr2:96503200-96548800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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