Variant report

Variant	esv3438669
Chromosome Location	chr1:189821344-189838696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:243)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:243 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:189821289-189821443	GM12878	blood:	n/a	n/a
2	CBX3	chr1:189828545-189828884	K562	blood:	n/a	n/a
3	CBX3	chr1:189828579-189828874	K562	blood:	n/a	n/a
4	CEBPB	chr1:189837043-189837350	A549	lung:	n/a	n/a
5	CHD2	chr1:189828659-189828858	GM12878	blood:	n/a	n/a
6	CTCF	chr1:189828640-189828790	AG09319	gingival:	n/a	n/a
7	CTCF	chr1:189828584-189828854	GM12891	blood:	n/a	n/a
8	CTCF	chr1:189828620-189828770	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr1:189828620-189828770	GM12872	blood:	n/a	n/a
10	CTCF	chr1:189828660-189828810	GM12870	blood:	n/a	n/a
11	CTCF	chr1:189828640-189828790	HEK293	kidney:	n/a	n/a
12	CTCF	chr1:189828580-189828730	A549	lung:	n/a	n/a
13	CTCF	chr1:189828583-189828832	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:189828600-189828750	GM12864	blood:	n/a	n/a
15	CTCF	chr1:189828600-189828750	AG09309	skin:	n/a	n/a
16	CTCF	chr1:189828680-189828830	HRE	kidney:	n/a	n/a
17	CTCF	chr1:189828580-189828730	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chr1:189828580-189828730	AG10803	skin:	n/a	n/a
19	CTCF	chr1:189828620-189828770	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:189828620-189828770	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr1:189828600-189828750	HCFaa	heart:	n/a	n/a
22	CTCF	chr1:189828599-189828820	HepG2	liver:	n/a	n/a
23	CTCF	chr1:189828600-189828750	GM12875	blood:	n/a	n/a
24	CTCF	chr1:189828540-189828690	HAc	cerebellar:	n/a	n/a
25	CTCF	chr1:189828700-189828850	A549	lung:	n/a	n/a
26	CTCF	chr1:189828580-189828730	WI-38	lung:	n/a	n/a
27	CTCF	chr1:189828572-189828883	GM19238	blood:	n/a	n/a
28	CTCF	chr1:189828620-189828770	NB4	blood:	n/a	n/a
29	CTCF	chr1:189828490-189828921	GM12878	blood:	n/a	n/a
30	CTCF	chr1:189828580-189828730	BJ	skin:	n/a	n/a
31	CTCF	chr1:189828868-189828871	LNCaP	prostate:	n/a	n/a
32	CTCF	chr1:189828620-189828770	GM12878	blood:	n/a	n/a
33	CTCF	chr1:189828580-189828730	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr1:189828589-189828761	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr1:189828620-189828770	K562	blood:	n/a	n/a
36	CTCF	chr1:189828660-189828810	GM12873	blood:	n/a	n/a
37	CTCF	chr1:189828614-189828793	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr1:189828600-189828750	Caco-2	colon:	n/a	n/a
39	CTCF	chr1:189828640-189828790	NHEK	skin:	n/a	n/a
40	CTCF	chr1:189828600-189828750	HVMF	connective:	n/a	n/a
41	CTCF	chr1:189828600-189828750	GM12865	blood:	n/a	n/a
42	CTCF	chr1:189828620-189828770	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr1:189828560-189828809	Medullo	brain:	n/a	n/a
44	CTCF	chr1:189828660-189828810	GM12872	blood:	n/a	n/a
45	CTCF	chr1:189828547-189828793	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr1:189828660-189828810	HMEC	breast:	n/a	n/a
47	CTCF	chr1:189828640-189828790	GM12864	blood:	n/a	n/a
48	CTCF	chr1:189828560-189828710	HRE	kidney:	n/a	n/a
49	CTCF	chr1:189828607-189828809	NHEK	skin:	n/a	n/a
50	CTCF	chr1:189828620-189828770	GM12866	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:189828427..189829123-chr1:190093339..190093859,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-1	chr1:189837457-189837658	XLOC_001130
2	lnc-FAM5C-1	chr1:189837131-189837342	XLOC_001130

No data

Variant related genes	Relation type
ENSG00000238270	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567692512	chr1:189821367-189821368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368309602	chr1:189821374-189821375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549319749	chr1:189821391-189821392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79192587	chr1:189821393-189821394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116726678	chr1:189821394-189821395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529788043	chr1:189828602-189828603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139620715	chr1:189828658-189828659	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6660178	chr1:189828675-189828676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566380701	chr1:189828729-189828730	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6660279	chr1:189828733-189828734	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558727405	chr1:189828790-189828791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577492387	chr1:189828797-189828798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552609078	chr1:189828854-189828855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180691106	chr1:189828864-189828865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538581226	chr1:189828876-189828877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553665515	chr1:189828880-189828881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555248921	chr1:189828902-189828903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568556554	chr1:189828947-189828948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1517090	chr1:189828993-189828994	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185407440	chr1:189829006-189829007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189716835	chr1:189829010-189829011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1517091	chr1:189829109-189829110	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561000030	chr1:189829119-189829120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181420321	chr1:189829122-189829123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575052095	chr1:189829153-189829154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186883368	chr1:189829162-189829163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560791239	chr1:189829167-189829168	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377191485	chr1:189829176-189829177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1517092	chr1:189829187-189829188	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141207450	chr1:189829192-189829193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1517093	chr1:189829210-189829211	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150320622	chr1:189829230-189829231	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs552786138	chr1:189829235-189829236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572365841	chr1:189829236-189829237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs534811192	chr1:189829239-189829240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs563171261	chr1:189829244-189829245	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs3005705	chr1:189829246-189829247	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138439614	chr1:189829261-189829262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs574976004	chr1:189829271-189829272	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532841740	chr1:189829283-189829284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548078664	chr1:189829442-189829443	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372435196	chr1:189829467-189829468	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs386637879	chr1:189829473-189829474	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs141281425	chr1:189829474-189829475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs144710860	chr1:189829498-189829499	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs111238717	chr1:189829499-189829500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs2944696	chr1:189829503-189829504	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547591220	chr1:189829504-189829505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs570785387	chr1:189829519-189829520	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs539453806	chr1:189829552-189829553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189819600-189821400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:189820200-189821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:189828600-189829200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr1:189828600-189830800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:189829200-189829800	ZNF genes & repeats	Pancreas	Pancrea
6	chr1:189837200-189837600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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