Variant report

Variant	nsv979240
Chromosome Location	chr2:96573509-96576781
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	CEBPB	chr2:96576685-96576797	A549	lung:	n/a	n/a
2	EP300	chr2:96573873-96574217	GM12878	blood:	n/a	n/a
3	FOSL2	chr2:96575599-96576008	HepG2	liver:	n/a	n/a
4	FOSL2	chr2:96575775-96576066	HepG2	liver:	n/a	n/a
5	FOSL2	chr2:96575260-96575525	HepG2	liver:	n/a	n/a
6	FOXA1	chr2:96575175-96575468	HepG2	liver:	n/a	n/a
7	GABPA	chr2:96574368-96574608	Hela-S3	cervix:	n/a	n/a
8	GATA2	chr2:96574352-96574600	K562	blood:	n/a	n/a
9	PAX5	chr2:96574027-96574217	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:96573673-96573956	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:96573748-96574196	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP1	chr2:96573729-96573991	GM12878	blood:	n/a	n/a
13	SP1	chr2:96573947-96574244	HepG2	liver:	n/a	n/a
14	SPI1	chr2:96573617-96573814	GM12878	blood:	n/a	n/a
15	SPI1	chr2:96573646-96574081	GM12878	blood:	n/a	n/a
16	SPI1	chr2:96573612-96574019	GM12891	blood:	n/a	n/a
17	SPI1	chr2:96573650-96573895	K562	blood:	n/a	n/a
18	SPI1	chr2:96573575-96574191	GM12891	blood:	n/a	n/a
19	SPI1	chr2:96575438-96575806	GM12878	blood:	n/a	n/a
20	SPI1	chr2:96573627-96573924	K562	blood:	n/a	n/a
21	TAF1	chr2:96574045-96574214	Hela-S3	cervix:	n/a	n/a
22	ZBTB33	chr2:96574471-96574637	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ANKRD36C	TF binding region

Extended variants
information (count: 134 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567395379	chr2:96573512-96573513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535961594	chr2:96573528-96573529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553159540	chr2:96573540-96573541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573057661	chr2:96573548-96573549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202014239	chr2:96573549-96573550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558910341	chr2:96573556-96573557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371573044	chr2:96573617-96573618	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs373264355	chr2:96573633-96573634	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575561051	chr2:96573709-96573710	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs375331391	chr2:96573776-96573777	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs199947391	chr2:96573804-96573805	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561120131	chr2:96573843-96573844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574925331	chr2:96573858-96573859	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs62153693	chr2:96573879-96573880	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560349376	chr2:96573890-96573891	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs532583806	chr2:96573926-96573927	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs552324985	chr2:96574025-96574026	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531874719	chr2:96574033-96574034	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550597124	chr2:96574043-96574044	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs567128336	chr2:96574045-96574046	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs536378422	chr2:96574046-96574047	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs145477016	chr2:96574067-96574068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs148830241	chr2:96574078-96574079	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs538837572	chr2:96574079-96574080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs558746903	chr2:96574085-96574086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs80193532	chr2:96574087-96574088	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs181330156	chr2:96574093-96574094	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs554978599	chr2:96574099-96574100	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs574726477	chr2:96574105-96574106	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs540588353	chr2:96574107-96574108	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs560235809	chr2:96574134-96574135	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs576880168	chr2:96574212-96574213	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546028767	chr2:96574271-96574272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200680017	chr2:96574298-96574299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201340585	chr2:96574311-96574312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184926597	chr2:96574329-96574330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372821252	chr2:96574341-96574342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142013939	chr2:96574365-96574366	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs189716497	chr2:96574387-96574388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs566578909	chr2:96574389-96574390	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs369847692	chr2:96574396-96574397	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs538730083	chr2:96574398-96574399	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs183934154	chr2:96574438-96574439	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs538176175	chr2:96574503-96574504	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs554584241	chr2:96574520-96574521	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs574649573	chr2:96574525-96574526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs533943593	chr2:96574545-96574546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs62153694	chr2:96574551-96574552	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs553710413	chr2:96574599-96574600	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545869185	chr2:96574642-96574643	Weak transcription	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
2	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
3	chr2:96536000-96576800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:96541000-96582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
7	chr2:96543800-96596200	Weak transcription	K562	blood
8	chr2:96545000-96576400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:96546000-96577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:96547000-96586400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:96547600-96575800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:96549800-96576400	Weak transcription	Thymus	Thymus
13	chr2:96549800-96576600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:96549800-96579600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:96549800-96580200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:96549800-96588600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:96549800-96590600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:96551400-96600800	Weak transcription	Brain Angular Gyrus	brain
19	chr2:96551800-96588600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:96552400-96576200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:96552400-96595400	Weak transcription	Fetal Kidney	kidney
22	chr2:96554000-96580400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:96554200-96588600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:96556000-96576400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:96556000-96583800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:96556200-96576800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:96556200-96577400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:96556200-96582000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:96556200-96582400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:96556200-96583000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:96556400-96576400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:96556400-96577200	Weak transcription	Primary T cells from cord blood	blood
34	chr2:96556400-96577600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:96556400-96578000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:96556400-96579800	Weak transcription	Fetal Brain Female	brain
37	chr2:96556400-96582200	Weak transcription	Primary B cells from cord blood	blood
38	chr2:96556400-96585000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:96556400-96598800	Weak transcription	Fetal Heart	heart
40	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:96556600-96583200	Weak transcription	Fetal Lung	lung
43	chr2:96557400-96576000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:96558200-96576000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:96558200-96580000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:96558200-96582000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:96558200-96583200	Weak transcription	Ovary	ovary
49	chr2:96558400-96576000	Weak transcription	Fetal Thymus	thymus
50	chr2:96558400-96583000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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