Variant report

Variant	nsv979185
Chromosome Location	chr2:234590426-234591548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:234590215-234590473	A549	lung:	n/a	chr2:234590292-234590305 chr2:234590292-234590303
2	CEBPB	chr2:234590183-234590481	A549	lung:	n/a	chr2:234590292-234590305 chr2:234590292-234590303
3	CEBPB	chr2:234590167-234590485	Hela-S3	cervix:	n/a	chr2:234590292-234590305 chr2:234590292-234590303
4	CTCF	chr2:234591309-234591397	GM13976	blood:	n/a	n/a
5	EP300	chr2:234590218-234590463	Hela-S3	cervix:	n/a	n/a
6	FOS	chr2:234590191-234590589	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:234590188-234590525	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr2:234590183-234590592	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:234590208-234590532	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr2:234590192-234590509	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr2:234590218-234590527	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr2:234590617-234590662	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:234590217-234590480	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr2:234590170-234590529	MCF10A-Er-Src	breast:	n/a	chr2:234590375-234590386 chr2:234590254-234590265
15	STAT3	chr2:234590189-234590523	MCF10A-Er-Src	breast:	n/a	chr2:234590375-234590386 chr2:234590254-234590265
16	STAT3	chr2:234590186-234590525	MCF10A-Er-Src	breast:	n/a	chr2:234590375-234590386 chr2:234590254-234590265
17	STAT3	chr2:234591404-234591416	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234590590-234590640	NH-A	brain:	n/a
2	chr2:234590590-234590640	A549	lung:	n/a
3	chr2:234590865-234590915	SK-N-MC	brain:	n/a
4	chr2:234590590-234590640	CMK	blood:	n/a
5	chr2:234590865-234590915	HCPEpiC	choroid plexus:	n/a
6	chr2:234590865-234590915	HCF	heart:	n/a
7	chr2:234590590-234590640	HL-60	blood:	n/a
8	chr2:234590865-234590915	HUVEC	blood vessel:	n/a
9	chr2:234590590-234590640	K562	blood:	n/a
10	chr2:234590865-234590915	GM12878	blood:	n/a
11	chr2:234590590-234590640	HPAEpiC	pulmonary alveolar:	n/a
12	chr2:234590590-234590640	NB4	blood:	n/a
13	chr2:234590865-234590915	RPTEC	kidney:	n/a
14	chr2:234590865-234590915	IMR90	lung:	fetal
15	chr2:234590590-234590640	MCF-7	breast:	n/a
16	chr2:234590590-234590640	Hepatocyte	liver:	n/a
17	chr2:234590865-234590915	ovcar-3	ovarian:	n/a
18	chr2:234590590-234590640	SK-N-SH	brain:	n/a
19	chr2:234590865-234590915	HRCEpiC	kidney:	n/a
20	chr2:234590590-234590640	HNPCEpiC	eye:	n/a
21	chr2:234590590-234590640	HepG2	liver:	n/a
22	chr2:234590865-234590915	HMEC	breast:	n/a
23	chr2:234590590-234590640	SAEC	small airway:	n/a
24	chr2:234590865-234590915	A549	lung:	n/a
25	chr2:234590865-234590915	Caco-2	colon:	n/a
26	chr2:234590865-234590915	AG04449	skin:	fetal
27	chr2:234590590-234590640	HCPEpiC	choroid plexus:	n/a
28	chr2:234590590-234590640	BE2_C	brain:	n/a
29	chr2:234590590-234590640	HCM	heart:	n/a
30	chr2:234590590-234590640	HRPEpiC	eye:	n/a
31	chr2:234590865-234590915	GM19239	blood:	n/a
32	chr2:234590865-234590915	GM12891	blood:	n/a
33	chr2:234590590-234590640	AG04450	lung:	fetal
34	chr2:234590865-234590915	HepG2	liver:	n/a
35	chr2:234590590-234590640	ECC-1	luminal epithelium:	n/a
36	chr2:234590590-234590640	SK-N-SH_RA	brain:	n/a
37	chr2:234590865-234590915	AG10803	skin:	n/a
38	chr2:234590865-234590915	T-47D	breast:	n/a
39	chr2:234590590-234590640	AG09319	gingival:	n/a
40	chr2:234590865-234590915	Hela-S3	cervix:	n/a
41	chr2:234590865-234590915	AG09309	skin:	n/a
42	chr2:234590865-234590915	GM12892	blood:	n/a
43	chr2:234590590-234590640	IMR90	lung:	fetal
44	chr2:234590865-234590915	PrEC	prostate:	n/a
45	chr2:234590865-234590915	AG04450	lung:	fetal
46	chr2:234590865-234590915	BE2_C	brain:	n/a
47	chr2:234590590-234590640	AG10803	skin:	n/a
48	chr2:234590590-234590640	HMEC	breast:	n/a
49	chr2:234590865-234590915	HAEpiC	amniotic membrane:	n/a
50	chr2:234590590-234590640	GM06990	blood:	n/a

No data

Variant related genes	Relation type
UGT1A7	TF binding region
UGT1A7	CpG island

Extended variants
information (count: 94 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28969712	chr2:234590478-234590479	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187591809	chr2:234590481-234590482	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558852280	chr2:234590486-234590487	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575531809	chr2:234590487-234590488	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs189655605	chr2:234590503-234590504	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs7586110	chr2:234590527-234590528	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs574890114	chr2:234590529-234590530	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs542729995	chr2:234590532-234590533	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376801837	chr2:234590538-234590539	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7577677	chr2:234590616-234590617	Bivalent Enhancer Enhancers Weak transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145424374	chr2:234590677-234590678	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201684360	chr2:234590684-234590685	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376446155	chr2:234590691-234590692	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200190624	chr2:234590697-234590698	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373408916	chr2:234590706-234590707	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140853286	chr2:234590727-234590728	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377066301	chr2:234590737-234590738	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565225309	chr2:234590745-234590746	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530813077	chr2:234590748-234590749	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7577789	chr2:234590751-234590752	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370145562	chr2:234590778-234590779	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201856078	chr2:234590781-234590782	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374860015	chr2:234590810-234590811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145733073	chr2:234590821-234590822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367893933	chr2:234590822-234590823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149618508	chr2:234590826-234590827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151080578	chr2:234590845-234590846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547107317	chr2:234590848-234590849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72551331	chr2:234590850-234590851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs45437497	chr2:234590857-234590858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150285310	chr2:234590865-234590866	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs182095678	chr2:234590882-234590883	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs200147039	chr2:234590889-234590890	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs201200762	chr2:234590905-234590906	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs149528133	chr2:234590922-234590923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61261057	chr2:234590926-234590927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140814031	chr2:234590935-234590936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56385016	chr2:234590969-234590970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71405712	chr2:234590970-234590971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397726009	chr2:234590974-234590975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs66534818	chr2:234590975-234590976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114052958	chr2:234591000-234591001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72551332	chr2:234591005-234591006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183302274	chr2:234591012-234591013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375461567	chr2:234591018-234591019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368625224	chr2:234591029-234591030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544515568	chr2:234591049-234591050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140683946	chr2:234591050-234591051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139969318	chr2:234591060-234591061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529928629	chr2:234591070-234591071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:234588000-234593000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:234588600-234597000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:234589000-234590800	Enhancers	Liver	Liver
5	chr2:234589400-234590600	Weak transcription	Esophagus	oesophagus
6	chr2:234589400-234590800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:234589800-234593000	Weak transcription	A549	lung
8	chr2:234590000-234597800	Weak transcription	Colonic Mucosa	Colon
9	chr2:234590200-234591800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:234590600-234590800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:234590600-234590800	Enhancers	Esophagus	oesophagus
12	chr2:234590800-234591600	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:234590800-234592600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:234590800-234597400	Weak transcription	Liver	Liver
15	chr2:234590800-234599800	Weak transcription	Esophagus	oesophagus
16	chr2:234591000-234592600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:234591200-234591600	Enhancers	Primary B cells from cord blood	blood

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