Variant report

Variant	nsv538297
Chromosome Location	chr6:68256945-68413708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:401)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:68268936-68269129	K562	blood:	n/a	n/a
2	ATF3	chr6:68270050-68270268	K562	blood:	n/a	n/a
3	BHLHE40	chr6:68269989-68270319	K562	blood:	n/a	n/a
4	CBX3	chr6:68384145-68384361	K562	blood:	n/a	n/a
5	CBX3	chr6:68344107-68344496	K562	blood:	n/a	n/a
6	CBX3	chr6:68332204-68332430	K562	blood:	n/a	n/a
7	CBX3	chr6:68332154-68332575	K562	blood:	n/a	n/a
8	CEBPB	chr6:68339191-68339465	K562	blood:	n/a	n/a
9	CEBPB	chr6:68393903-68394333	IMR90	lung:	n/a	n/a
10	CEBPB	chr6:68339215-68339484	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr6:68410727-68410916	A549	lung:	n/a	chr6:68410857-68410868
12	CEBPB	chr6:68394017-68394325	K562	blood:	n/a	n/a
13	CEBPB	chr6:68352610-68352810	A549	lung:	n/a	n/a
14	CEBPB	chr6:68277758-68278045	K562	blood:	n/a	n/a
15	CEBPB	chr6:68270047-68270243	K562	blood:	n/a	n/a
16	CEBPB	chr6:68339210-68339369	K562	blood:	n/a	n/a
17	CEBPB	chr6:68377739-68377882	K562	blood:	n/a	chr6:68377739-68377747
18	CEBPD	chr6:68363503-68363892	K562	blood:	n/a	n/a
19	CHD2	chr6:68270056-68270205	K562	blood:	n/a	n/a
20	CTCF	chr6:68404040-68404190	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr6:68404200-68404350	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr6:68404102-68404343	GM12878	blood:	n/a	n/a
23	CTCF	chr6:68404101-68404292	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:68380868-68380905	GM10248	blood:	n/a	n/a
25	CTCF	chr6:68404120-68404270	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr6:68404060-68404330	BE2_C	brain:	n/a	n/a
27	CTCF	chr6:68404110-68404249	ProgFib	skin:	n/a	n/a
28	CTCF	chr6:68404120-68404270	HMF	breast:	n/a	n/a
29	CTCF	chr6:68404160-68404310	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr6:68404120-68404270	BJ	skin:	n/a	n/a
31	CTCF	chr6:68404080-68404230	HEK293	kidney:	n/a	n/a
32	CTCF	chr6:68403964-68404392	MCF-7	breast:	n/a	n/a
33	CTCF	chr6:68404100-68404293	HepG2	liver:	n/a	n/a
34	CTCF	chr6:68404108-68404275	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:68339040-68339190	GM12869	blood:	n/a	n/a
36	CTCF	chr6:68404100-68404250	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr6:68404120-68404251	Gliobla	brain:	n/a	n/a
38	CTCF	chr6:68404100-68404250	HepG2	liver:	n/a	n/a
39	CTCF	chr6:68404180-68404330	HRE	kidney:	n/a	n/a
40	CTCF	chr6:68404080-68404230	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr6:68404080-68404230	SAEC	small airway:	n/a	n/a
42	CTCF	chr6:68404060-68404210	K562	blood:	n/a	n/a
43	CTCF	chr6:68404100-68404250	AG04450	lung:	n/a	n/a
44	CTCF	chr6:68404100-68404250	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr6:68404206-68404209	LNCaP	prostate:	n/a	n/a
46	CTCF	chr6:68404188-68404222	Medullo	brain:	n/a	n/a
47	CTCF	chr6:68404139-68404242	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:68404100-68404250	RPTEC	kidney:	n/a	n/a
49	CTCF	chr6:68404140-68404290	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr6:68404200-68404350	RPTEC	kidney:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68413174..68415186-chr6:68423979..68425964,2	K562	blood:
2	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:
3	chr6:68357683..68359642-chr6:68370181..68373049,2	MCF-7	breast:
4	chr6:68412434..68414327-chr6:68587582..68589254,2	K562	blood:
5	chr6:68250130..68252164-chr6:68269615..68271748,2	MCF-7	breast:
6	chr6:68313957..68316752-chr6:68317166..68320588,3	K562	blood:
7	chr6:68313957..68316752-chr6:68317166..68320588,3	K562	blood:
8	chr6:68371549..68373538-chr6:68376260..68378191,3	K562	blood:
9	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:
10	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
11	chr6:68311734..68314302-chr6:68583935..68586240,2	K562	blood:
12	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
13	chr6:68371549..68373538-chr6:68376260..68378191,3	K562	blood:
14	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
15	chr6:68357683..68359642-chr6:68370181..68373049,2	MCF-7	breast:
16	chr6:68403765..68404346-chr6:102923949..102924449,2	MCF-7	breast:
17	chr6:68361466..68364465-chr6:68587796..68590691,2	K562	blood:
18	chr6:68384869..68387346-chr6:68589720..68591224,2	K562	blood:
19	chr13:82142712..82144212-chr6:68403629..68406116,2	K562	blood:
20	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
21	chr6:68403017..68405900-chr6:68588028..68590720,2	K562	blood:
22	chr6:68303209..68306059-chr6:68307817..68309668,2	K562	blood:
23	chr6:68292892..68295431-chr6:68738448..68740413,2	K562	blood:
24	chr6:68307817..68309622-chr6:68313162..68315036,2	K562	blood:
25	chr6:68310865..68312507-chr6:68587249..68589737,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206672	TF binding region

Extended variants
information (count: 1916 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1916 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548371277	chr6:68266201-68266202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568124049	chr6:68266275-68266276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150020565	chr6:68266279-68266280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114228769	chr6:68266316-68266317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181570025	chr6:68266328-68266329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377691828	chr6:68266335-68266336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145253906	chr6:68266352-68266353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140052413	chr6:68266376-68266377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73451465	chr6:68266386-68266387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs75158952	chr6:68266413-68266414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79361931	chr6:68266426-68266427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555935812	chr6:68266436-68266437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77022417	chr6:68266437-68266438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77861308	chr6:68266447-68266448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544738579	chr6:68266456-68266457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143616966	chr6:68266464-68266465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184474801	chr6:68266475-68266476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78454775	chr6:68266502-68266503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2223942	chr6:68266514-68266515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560245370	chr6:68266523-68266524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528398285	chr6:68266548-68266549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569737733	chr6:68266563-68266564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541725974	chr6:68266595-68266596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561942874	chr6:68266624-68266625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538349015	chr6:68266633-68266634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530598898	chr6:68266652-68266653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111929387	chr6:68266660-68266661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570204309	chr6:68266670-68266671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377603501	chr6:68266673-68266674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538878241	chr6:68266681-68266682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371330811	chr6:68266714-68266715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546191173	chr6:68266715-68266716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566302494	chr6:68266754-68266755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200264121	chr6:68266760-68266761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9363772	chr6:68266761-68266762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140432243	chr6:68266768-68266769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569390549	chr6:68266770-68266771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538422435	chr6:68266800-68266801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35043711	chr6:68266811-68266812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200347918	chr6:68266812-68266813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536949918	chr6:68266826-68266827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578149229	chr6:68266839-68266840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143600128	chr6:68266849-68266850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188924076	chr6:68266854-68266855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9360293	chr6:68266898-68266899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181966297	chr6:68266912-68266913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534150247	chr6:68266921-68266922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187297087	chr6:68266930-68266931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140834091	chr6:68266975-68266976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543998304	chr6:68266979-68266980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68266200-68272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:68268600-68268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:68268800-68269000	Enhancers	K562	blood
4	chr6:68269000-68270000	Weak transcription	K562	blood
5	chr6:68269400-68269600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:68270000-68270400	Flanking Active TSS	K562	blood
7	chr6:68270400-68274600	Weak transcription	K562	blood
8	chr6:68272800-68273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:68273000-68273200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:68274600-68275000	Enhancers	K562	blood
11	chr6:68284800-68285200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:68312200-68313000	Enhancers	Fetal Lung	lung
13	chr6:68313000-68317200	Weak transcription	Fetal Lung	lung
14	chr6:68313400-68313600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:68313600-68316400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:68314600-68315000	Enhancers	Liver	Liver
17	chr6:68315000-68316400	Weak transcription	Liver	Liver
18	chr6:68316400-68317600	Enhancers	HUVEC	blood vessel
19	chr6:68316400-68318400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:68316400-68318600	Enhancers	Liver	Liver
21	chr6:68316800-68317600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:68317200-68318600	Enhancers	Fetal Lung	lung
23	chr6:68331200-68333600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:68331800-68332800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:68338200-68339400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:68338400-68340000	Enhancers	HUVEC	blood vessel
27	chr6:68338600-68340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:68338800-68339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:68338800-68340400	Enhancers	Fetal Lung	lung
30	chr6:68338800-68341000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:68339000-68339600	Enhancers	NH-A	brain
32	chr6:68339000-68340600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:68339200-68340000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:68339400-68340000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:68339400-68340800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:68339600-68340200	Flanking Active TSS	NH-A	brain
37	chr6:68339800-68340200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:68339800-68340800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr6:68340000-68340200	Active TSS	NHDF-Ad	bronchial
40	chr6:68340000-68340400	Flanking Active TSS	HUVEC	blood vessel
41	chr6:68340000-68340600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:68340000-68341400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:68340200-68340400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:68340200-68340400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:68340200-68340400	Flanking Active TSS	NHDF-Ad	bronchial
46	chr6:68340200-68340600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:68340200-68340800	Enhancers	NH-A	brain
48	chr6:68340400-68340800	Enhancers	NHDF-Ad	bronchial
49	chr6:68340400-68341000	Enhancers	HUVEC	blood vessel
50	chr6:68340400-68344000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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