Variant report

Variant	esv3445600
Chromosome Location	chr1:190582344-190607433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:190586704-190586903	K562	blood:	n/a	chr1:190586814-190586825
2	CEBPB	chr1:190582097-190582370	IMR90	lung:	n/a	chr1:190582346-190582358 chr1:190582214-190582225
3	CEBPB	chr1:190586705-190586925	HepG2	liver:	n/a	chr1:190586814-190586825
4	CTCF	chr1:190602740-190602890	HCT-116	colon:	n/a	n/a
5	CTCF	chr1:190585060-190585210	GM12878	blood:	n/a	n/a
6	CTCF	chr1:190585020-190585170	GM12870	blood:	n/a	n/a
7	CTCF	chr1:190584980-190585307	GM12878	blood:	n/a	n/a
8	CTCF	chr1:190585040-190585190	GM12878	blood:	n/a	n/a
9	CTCF	chr1:190603018-190603080	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:190585040-190585190	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr1:190602720-190602870	HPF	lung:	n/a	n/a
12	CTCF	chr1:190585045-190585229	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:190585097-190585193	GM20000	blood:	n/a	n/a
14	CTCF	chr1:190602780-190602930	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr1:190585100-190585250	GM12867	blood:	n/a	n/a
16	CTCF	chr1:190602689-190602928	MCF-7	breast:	n/a	n/a
17	CTCF	chr1:190602699-190602907	GM13977	blood:	n/a	n/a
18	CTCF	chr1:190602720-190602870	GM06990	blood:	n/a	n/a
19	CTCF	chr1:190585040-190585190	GM12874	blood:	n/a	n/a
20	CTCF	chr1:190585051-190585220	GM19239	blood:	n/a	n/a
21	CTCF	chr1:190585040-190585190	GM12868	blood:	n/a	n/a
22	CTCF	chr1:190602740-190602890	GM12865	blood:	n/a	n/a
23	CTCF	chr1:190585015-190585263	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr1:190602740-190602890	HRE	kidney:	n/a	n/a
25	CTCF	chr1:190602680-190602830	GM12870	blood:	n/a	n/a
26	CTCF	chr1:190585067-190585234	HepG2	liver:	n/a	n/a
27	CTCF	chr1:190602600-190602750	GM12869	blood:	n/a	n/a
28	CTCF	chr1:190602794-190602871	GM10266	blood:	n/a	n/a
29	CTCF	chr1:190585060-190585210	GM12871	blood:	n/a	n/a
30	CTCF	chr1:190585145-190585210	GM10266	blood:	n/a	n/a
31	CTCF	chr1:190602760-190602910	HPF	lung:	n/a	n/a
32	CTCF	chr1:190585029-190585259	Gliobla	brain:	n/a	n/a
33	CTCF	chr1:190585000-190585150	GM12864	blood:	n/a	n/a
34	CTCF	chr1:190602705-190602921	Gliobla	brain:	n/a	n/a
35	CTCF	chr1:190585034-190585233	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:190585000-190585150	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr1:190585060-190585210	GM12875	blood:	n/a	n/a
38	CTCF	chr1:190602720-190602870	GM12871	blood:	n/a	n/a
39	CTCF	chr1:190585240-190585390	GM06990	blood:	n/a	n/a
40	CTCF	chr1:190585099-190585195	GM13977	blood:	n/a	n/a
41	CTCF	chr1:190602720-190602870	GM12865	blood:	n/a	n/a
42	CTCF	chr1:190602740-190602890	A549	lung:	n/a	n/a
43	CTCF	chr1:190602700-190602850	GM12866	blood:	n/a	n/a
44	CTCF	chr1:190585124-190585182	NHEK	skin:	n/a	n/a
45	CTCF	chr1:190585029-190585243	GM12878	blood:	n/a	n/a
46	CTCF	chr1:190602720-190602870	HMEC	breast:	n/a	n/a
47	CTCF	chr1:190585140-190585290	A549	lung:	n/a	n/a
48	CTCF	chr1:190585040-190585190	GM12872	blood:	n/a	n/a
49	CTCF	chr1:190585000-190585228	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr1:190585144-190585185	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:190591206..190593247-chr16:68728532..68731192,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-4	chr1:190594020-190594163	ENSG00000231175.1

No data

Variant related genes	Relation type
ENSG00000231175	TF binding region
ENSG00000062038	chromatin interactions

Extended variants
information (count: 512 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370312504	chr1:190582402-190582403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566705903	chr1:190582414-190582415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374243460	chr1:190582417-190582418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533646715	chr1:190582436-190582437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530228553	chr1:190582471-190582472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551353691	chr1:190582486-190582487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548429140	chr1:190582533-190582534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140717153	chr1:190582613-190582614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16832532	chr1:190582618-190582619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536685227	chr1:190582649-190582650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144577038	chr1:190582675-190582676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115894133	chr1:190582712-190582713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372027611	chr1:190582713-190582714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151278177	chr1:190582774-190582775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539339113	chr1:190582775-190582776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558961456	chr1:190582825-190582826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573257800	chr1:190582827-190582828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575826884	chr1:190582878-190582879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111738253	chr1:190582879-190582880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140487658	chr1:190582891-190582892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16832534	chr1:190582918-190582919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540689993	chr1:190582963-190582964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34858348	chr1:190582966-190582967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560551974	chr1:190582973-190582974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190038339	chr1:190582986-190582987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532374704	chr1:190583029-190583030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551682285	chr1:190583064-190583065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531677313	chr1:190583068-190583069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565021113	chr1:190583079-190583080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111267917	chr1:190583109-190583110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530660595	chr1:190583121-190583122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs694698	chr1:190583153-190583154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567078150	chr1:190583188-190583189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535954801	chr1:190583199-190583200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578177507	chr1:190583231-190583232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77117820	chr1:190583235-190583236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566489463	chr1:190583252-190583253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538239072	chr1:190583266-190583267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150150046	chr1:190583309-190583310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576003884	chr1:190583322-190583323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145560141	chr1:190583372-190583373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560518831	chr1:190583376-190583377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555210180	chr1:190583383-190583384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575052850	chr1:190583386-190583387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368291281	chr1:190583404-190583405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570213075	chr1:190583424-190583425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540752790	chr1:190583452-190583453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371687367	chr1:190583547-190583548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560362674	chr1:190583558-190583559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577203205	chr1:190583574-190583575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190582400-190583400	Enhancers	Fetal Heart	heart
2	chr1:190583400-190588800	Weak transcription	Fetal Heart	heart
3	chr1:190585000-190585200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:190585000-190586000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:190585200-190585600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:190585200-190585600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:190585200-190585600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:190585400-190585800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:190588800-190589200	Enhancers	Fetal Heart	heart
10	chr1:190603000-190604800	Enhancers	Pancreas	Pancrea
11	chr1:190606200-190606600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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