Variant report

Variant	nsv1006508
Chromosome Location	chr2:234938781-234955878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:112)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:112 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:234942615-234942944	HCT-116	colon:	n/a	n/a
2	CBX3	chr2:234952657-234953297	HCT-116	colon:	n/a	n/a
3	CBX3	chr2:234942522-234942978	HCT-116	colon:	n/a	n/a
4	CEBPB	chr2:234947115-234947447	IMR90	lung:	n/a	chr2:234947276-234947287
5	CEBPB	chr2:234952693-234953397	HCT-116	colon:	n/a	n/a
6	CEBPB	chr2:234952239-234952356	HepG2	liver:	n/a	chr2:234952312-234952323
7	CEBPB	chr2:234947137-234947409	HepG2	liver:	n/a	chr2:234947276-234947287
8	CEBPB	chr2:234940986-234941130	A549	lung:	n/a	n/a
9	CTCF	chr2:234941860-234942010	RPTEC	kidney:	n/a	n/a
10	CTCF	chr2:234941860-234942010	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr2:234941880-234942030	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr2:234941660-234941810	RPTEC	kidney:	n/a	n/a
13	CTCF	chr2:234941800-234941950	AG04450	lung:	n/a	n/a
14	CTCF	chr2:234941960-234942110	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr2:234941860-234942010	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr2:234941900-234942050	RPTEC	kidney:	n/a	n/a
17	CTCF	chr2:234942000-234942150	BE2_C	brain:	n/a	n/a
18	CTCF	chr2:234941920-234942070	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr2:234941960-234942110	HMF	breast:	n/a	n/a
20	CTCF	chr2:234941880-234942030	AG04450	lung:	n/a	n/a
21	CTCF	chr2:234941909-234942045	HUVEC	blood vessel:	n/a	n/a
22	E2F4	chr2:234952848-234953141	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr2:234941197-234941323	GM12878	blood:	n/a	chr2:234941229-234941240
24	EP300	chr2:234952738-234953154	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr2:234952724-234953244	SK-N-SH	brain:	n/a	n/a
26	EP300	chr2:234952614-234953406	SK-N-SH	brain:	n/a	n/a
27	FOS	chr2:234941024-234941379	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:234940933-234941462	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr2:234940997-234941514	HUVEC	blood vessel:	n/a	n/a
30	FOS	chr2:234952764-234953230	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr2:234952801-234953148	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr2:234940873-234941480	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr2:234952734-234953174	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr2:234952716-234953169	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr2:234952830-234953140	HUVEC	blood vessel:	n/a	n/a
36	FOS	chr2:234941012-234941389	MCF10A-Er-Src	breast:	n/a	n/a
37	FOSL1	chr2:234952763-234953303	HCT-116	colon:	n/a	n/a
38	FOSL2	chr2:234952665-234953325	SK-N-SH	brain:	n/a	n/a
39	FOSL2	chr2:234952775-234953214	SK-N-SH	brain:	n/a	n/a
40	FOSL2	chr2:234952602-234953372	A549	lung:	n/a	n/a
41	FOSL2	chr2:234940918-234941379	A549	lung:	n/a	n/a
42	FOSL2	chr2:234952759-234953244	A549	lung:	n/a	n/a
43	FOXA1	chr2:234952811-234953263	A549	lung:	n/a	n/a
44	FOXA2	chr2:234952756-234953361	A549	lung:	n/a	n/a
45	GATA2	chr2:234952907-234953238	HUVEC	blood vessel:	n/a	n/a
46	GATA3	chr2:234952605-234953484	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr2:234937399-234938829	A549	lung:	n/a	n/a
48	GATA3	chr2:234952660-234953442	SK-N-SH	brain:	n/a	n/a
49	GATA3	chr2:234952525-234953609	A549	lung:	n/a	n/a
50	GATA3	chr2:234952824-234953355	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	2:234772667-234780240..2:234954947-234965240	Hela-S3	cervix:
2	2:234635414-234639782..2:234945222-234954947	Hela-S3	cervix:
3	chr2:234939882..234942126-chr2:234943177..234946167,2	K562	blood:
4	chr2:234939882..234942126-chr2:234943177..234946167,2	K562	blood:
5	chr2:234835606..234837772-chr2:234955390..234957030,2	K562	blood:
6	2:234492023-234494396..2:234954947-234965240	Hela-S3	cervix:

No data

Variant related genes	Relation type
SPP2	TF binding region
ENSG00000241635	chromatin interactions
ENSG00000243135	chromatin interactions
ENSG00000228949	chromatin interactions
ENSG00000224287	chromatin interactions

Extended variants
information (count: 660 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2362296	chr2:234938781-234938782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34044803	chr2:234938797-234938798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150915520	chr2:234938799-234938800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560194980	chr2:234938800-234938801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1395836	chr2:234938860-234938861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545964835	chr2:234938873-234938874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189215401	chr2:234938886-234938887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1395835	chr2:234938888-234938889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs191500084	chr2:234938889-234938890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568631570	chr2:234938917-234938918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111288818	chr2:234938992-234938993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552828502	chr2:234939031-234939032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139402786	chr2:234939059-234939060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184078088	chr2:234939077-234939078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146992317	chr2:234939088-234939089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376108320	chr2:234939089-234939090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556268815	chr2:234939134-234939135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397740776	chr2:234939142-234939143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17865694	chr2:234939143-234939144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554773302	chr2:234939200-234939201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574600739	chr2:234939232-234939233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540544119	chr2:234939259-234939260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555873903	chr2:234939301-234939302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28903974	chr2:234939316-234939317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576940710	chr2:234939318-234939319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28903975	chr2:234939379-234939380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569665837	chr2:234939387-234939388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531455201	chr2:234939395-234939396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188814285	chr2:234939407-234939408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11680332	chr2:234939481-234939482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs12615187	chr2:234939485-234939486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547732068	chr2:234939513-234939514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61401779	chr2:234939525-234939526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35504693	chr2:234939563-234939564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77598130	chr2:234939576-234939577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7594792	chr2:234939580-234939581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs28948679	chr2:234939589-234939590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs371555694	chr2:234939591-234939592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540842644	chr2:234939641-234939642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554428863	chr2:234939664-234939665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568288952	chr2:234939674-234939675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534055499	chr2:234939686-234939687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145091030	chr2:234939753-234939754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577222115	chr2:234939756-234939757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539410353	chr2:234939777-234939778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28948680	chr2:234939842-234939843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12624062	chr2:234939851-234939852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576013557	chr2:234939881-234939882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144895718	chr2:234939953-234939954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562138814	chr2:234939965-234939966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234934600-234939600	Weak transcription	NHEK	skin
2	chr2:234934600-234940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:234934800-234939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:234934800-234942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:234935600-234940000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:234935800-234939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:234935800-234940400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:234935800-234940400	Weak transcription	HUVEC	blood vessel
9	chr2:234935800-234940800	Weak transcription	HSMM	muscle
10	chr2:234936600-234939600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:234937000-234939200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:234937200-234939000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:234937200-234939400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:234937400-234939600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:234937400-234939800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:234937600-234939400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:234937600-234939600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:234937800-234942200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:234938000-234938800	Enhancers	NHDF-Ad	bronchial
20	chr2:234938000-234942000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:234938200-234939400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:234938400-234938800	Enhancers	A549	lung
23	chr2:234938400-234939800	Weak transcription	HMEC	breast
24	chr2:234938400-234940000	Weak transcription	NH-A	brain
25	chr2:234938600-234939000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:234938600-234939800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:234938800-234939200	Weak transcription	NHDF-Ad	bronchial
28	chr2:234938800-234939800	Weak transcription	A549	lung
29	chr2:234939000-234942000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:234939000-234942200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:234939200-234941600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:234939200-234941800	Enhancers	NHDF-Ad	bronchial
33	chr2:234939400-234941600	Enhancers	Osteobl	bone
34	chr2:234939400-234942200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr2:234939400-234942400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:234939400-234942400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:234939600-234940000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:234939600-234941000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:234939600-234941800	Enhancers	NHEK	skin
40	chr2:234939600-234942000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:234939600-234942200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:234939600-234942200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:234939800-234940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:234939800-234940000	Enhancers	A549	lung
45	chr2:234939800-234941800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr2:234939800-234941800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:234939800-234942200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:234939800-234942200	Enhancers	HMEC	breast
49	chr2:234940000-234940800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:234940000-234940800	Weak transcription	A549	lung

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