Variant report

Variant	esv3494591
Chromosome Location	chr2:96527740-96545607
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	CTCF	chr2:96541814-96541903	GM10248	blood:	n/a	n/a
4	FOSL2	chr2:96532934-96533488	HepG2	liver:	n/a	chr2:96532977-96532989
5	FOSL2	chr2:96532993-96533482	HepG2	liver:	n/a	n/a
6	FOXA1	chr2:96535444-96535836	HepG2	liver:	n/a	n/a
7	FOXA1	chr2:96532812-96533602	HepG2	liver:	n/a	chr2:96532954-96532966 chr2:96533334-96533346
8	FOXA2	chr2:96535455-96536048	A549	lung:	n/a	n/a
9	FOXA2	chr2:96535526-96535888	A549	lung:	n/a	n/a
10	GABPA	chr2:96533129-96533322	Hela-S3	cervix:	n/a	n/a
11	JUND	chr2:96533153-96533344	HepG2	liver:	n/a	n/a
12	JUND	chr2:96533050-96533366	HepG2	liver:	n/a	n/a
13	NR3C1	chr2:96533062-96533485	A549	lung:	n/a	n/a
14	NR3C1	chr2:96532966-96533529	A549	lung:	n/a	n/a
15	POLR2A	chr2:96543609-96543713	Gliobla	brain:	n/a	n/a
16	RXRA	chr2:96533079-96533365	HepG2	liver:	n/a	n/a
17	SIN3AK20	chr2:96530116-96530219	HepG2	liver:	n/a	n/a
18	SP1	chr2:96533011-96533438	HepG2	liver:	n/a	n/a
19	TAF1	chr2:96533124-96533333	Hela-S3	cervix:	n/a	n/a
20	TCF12	chr2:96533099-96533330	HepG2	liver:	n/a	n/a
21	TCF12	chr2:96534272-96534490	HepG2	liver:	n/a	n/a
22	TEAD4	chr2:96532963-96533520	HepG2	liver:	n/a	n/a
23	ZBTB33	chr2:96533079-96533404	HepG2	liver:	n/a	n/a
24	ZBTB33	chr2:96535903-96536229	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPAT2-6	chr2:96533188-96533219	NONHSAT072520

Variant related genes	Relation type
ANKRD36C	TF binding region

Extended variants
information (count: 422 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75880913	chr2:96527747-96527748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2696793	chr2:96527761-96527762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529814846	chr2:96527780-96527781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74878494	chr2:96527802-96527803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2264719	chr2:96527833-96527834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546340252	chr2:96527883-96527884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560302087	chr2:96527926-96527927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532196541	chr2:96527950-96527951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552477175	chr2:96527962-96527963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569149650	chr2:96527973-96527974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375217358	chr2:96528040-96528041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376004985	chr2:96528150-96528151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538108439	chr2:96528192-96528193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548617511	chr2:96528367-96528368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182472659	chr2:96528421-96528422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534302273	chr2:96528486-96528487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368900828	chr2:96528494-96528495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553970630	chr2:96528519-96528520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139235881	chr2:96528549-96528550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372608247	chr2:96528558-96528559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556468614	chr2:96528587-96528588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4352265	chr2:96528657-96528658	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542085946	chr2:96528671-96528672	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs560562020	chr2:96528727-96528728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs143806938	chr2:96528816-96528817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201924142	chr2:96528819-96528820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559972868	chr2:96528824-96528825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188043863	chr2:96528855-96528856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554402297	chr2:96528918-96528919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552421889	chr2:96529045-96529046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562636607	chr2:96529050-96529051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572990527	chr2:96529051-96529052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531645940	chr2:96529084-96529085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548456921	chr2:96529135-96529136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2463580	chr2:96529157-96529158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4063050	chr2:96529448-96529449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568488453	chr2:96529480-96529481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527677214	chr2:96529483-96529484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141158929	chr2:96529528-96529529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570837307	chr2:96529548-96529549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539895782	chr2:96529591-96529592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556356669	chr2:96529654-96529655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569877173	chr2:96529660-96529661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535752071	chr2:96529684-96529685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555639563	chr2:96529717-96529718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192444861	chr2:96529853-96529854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184740051	chr2:96529936-96529937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117021231	chr2:96529937-96529938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553698537	chr2:96530253-96530254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576879417	chr2:96530266-96530267	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:105 , 50 per page) page: 1 2 3

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	chr2:96502600-96547800	Weak transcription	Fetal Thymus	thymus
4	chr2:96502600-96561400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:96502800-96533800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:96502800-96535600	Weak transcription	Brain Germinal Matrix	brain
7	chr2:96502800-96548400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:96502800-96548600	Weak transcription	Thymus	Thymus
9	chr2:96502800-96551400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:96502800-96555200	Weak transcription	Ovary	ovary
11	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
12	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
13	chr2:96503000-96563600	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:96503200-96544400	Weak transcription	Primary T cells from cord blood	blood
15	chr2:96503200-96548800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:96506200-96549400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:96506600-96562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:96516000-96534600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:96516200-96548400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:96516200-96549200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:96516800-96548600	Weak transcription	Adipose Nuclei	Adipose
22	chr2:96516800-96553400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:96518800-96544200	Weak transcription	Dnd41	blood
24	chr2:96521600-96532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:96521800-96528600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:96521800-96535400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:96521800-96536000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:96521800-96537600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:96521800-96548600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:96521800-96548600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:96521800-96548600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:96521800-96555600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:96524400-96548600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:96525200-96548600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:96526600-96532600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:96526600-96534000	Weak transcription	Primary B cells from cord blood	blood
37	chr2:96526600-96534400	Weak transcription	Psoas Muscle	Psoas
38	chr2:96526600-96535400	Weak transcription	Fetal Lung	lung
39	chr2:96526600-96536600	Weak transcription	Gastric	stomach
40	chr2:96526600-96548600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:96526600-96549400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:96526600-96555200	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:96526800-96553000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:96526800-96555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:96526800-96557600	Weak transcription	NHDF-Ad	bronchial
46	chr2:96527400-96527800	Enhancers	HUVEC	blood vessel
47	chr2:96527800-96540800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:96527800-96554000	Weak transcription	HUVEC	blood vessel
49	chr2:96528600-96528800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:96528600-96555600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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