Variant report

Variant	nsv463151
Chromosome Location	chr6:70625166-70694162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:70684183-70684412	K562	blood:	n/a	n/a
2	ATF1	chr6:70628051-70628170	K562	blood:	n/a	n/a
3	ATF1	chr6:70640798-70640916	K562	blood:	n/a	n/a
4	BACH1	chr6:70633640-70633675	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr6:70636711-70636885	GM12878	blood:	n/a	chr6:70636798-70636809
6	BATF	chr6:70636666-70636908	GM12878	blood:	n/a	chr6:70636798-70636809
7	BHLHE40	chr6:70675582-70675731	K562	blood:	n/a	n/a
8	CCNT2	chr6:70633639-70633865	K562	blood:	n/a	n/a
9	CEBPB	chr6:70680894-70681234	IMR90	lung:	n/a	n/a
10	CEBPB	chr6:70646475-70646926	ECC-1	luminal epithelium:	n/a	chr6:70646702-70646713
11	CEBPB	chr6:70627684-70628222	IMR90	lung:	n/a	n/a
12	CEBPB	chr6:70640709-70640987	K562	blood:	n/a	chr6:70640863-70640876 chr6:70640864-70640875 chr6:70640863-70640876
13	CEBPB	chr6:70646556-70646882	A549	lung:	n/a	chr6:70646702-70646713
14	CEBPB	chr6:70646522-70646896	IMR90	lung:	n/a	chr6:70646702-70646713
15	CEBPB	chr6:70684061-70684468	MCF-7	breast:	n/a	chr6:70684257-70684268
16	CEBPB	chr6:70642621-70642881	IMR90	lung:	n/a	n/a
17	CEBPB	chr6:70646521-70646883	Hela-S3	cervix:	n/a	chr6:70646702-70646713
18	CEBPB	chr6:70625364-70625604	HepG2	liver:	n/a	chr6:70625475-70625488 chr6:70625475-70625486 chr6:70625477-70625488
19	CEBPB	chr6:70683651-70683904	HepG2	liver:	n/a	chr6:70683750-70683761
20	CEBPB	chr6:70680939-70681233	K562	blood:	n/a	n/a
21	CEBPB	chr6:70646570-70646862	H1-hESC	embryonic stem cell:	n/a	chr6:70646702-70646713
22	CEBPB	chr6:70646523-70646886	K562	blood:	n/a	chr6:70646702-70646713
23	CEBPB	chr6:70640708-70641022	IMR90	lung:	n/a	chr6:70640863-70640876 chr6:70640864-70640875 chr6:70640863-70640876
24	CEBPB	chr6:70646538-70646937	ECC-1	luminal epithelium:	n/a	chr6:70646702-70646713
25	CEBPB	chr6:70689950-70690228	K562	blood:	n/a	chr6:70690098-70690109
26	CEBPB	chr6:70684148-70684405	K562	blood:	n/a	chr6:70684257-70684268
27	CEBPB	chr6:70646534-70646894	HepG2	liver:	n/a	chr6:70646702-70646713
28	CEBPB	chr6:70640771-70641000	A549	lung:	n/a	chr6:70640863-70640876 chr6:70640864-70640875 chr6:70640863-70640876
29	CEBPB	chr6:70689972-70690212	HepG2	liver:	n/a	chr6:70690098-70690109
30	CEBPB	chr6:70689992-70690244	IMR90	lung:	n/a	chr6:70690098-70690109
31	CEBPB	chr6:70640806-70640981	H1-hESC	embryonic stem cell:	n/a	chr6:70640863-70640876 chr6:70640864-70640875 chr6:70640863-70640876
32	CEBPB	chr6:70640688-70641006	HepG2	liver:	n/a	chr6:70640863-70640876 chr6:70640864-70640875 chr6:70640863-70640876
33	CTCF	chr6:70690720-70690870	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr6:70693940-70694090	GM12873	blood:	n/a	n/a
35	CTCF	chr6:70627930-70628027	NHEK	skin:	n/a	n/a
36	CTCF	chr6:70643360-70643510	HMEC	breast:	n/a	n/a
37	CTCF	chr6:70693960-70694110	HCFaa	heart:	n/a	n/a
38	CTCF	chr6:70643377-70643467	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr6:70632785-70632815	GM13976	blood:	n/a	n/a
40	CTCF	chr6:70653360-70653510	AG04450	lung:	n/a	n/a
41	CTCF	chr6:70690700-70690850	GM06990	blood:	n/a	n/a
42	CTCF	chr6:70643320-70643470	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr6:70690640-70690790	HEK293	kidney:	n/a	n/a
44	CTCF	chr6:70643420-70643570	HMEC	breast:	n/a	n/a
45	CTCF	chr6:70690580-70690730	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:70690596-70690887	GM12878	blood:	n/a	n/a
47	CTCF	chr6:70690634-70690718	Medullo	brain:	n/a	n/a
48	CTCF	chr6:70643360-70643510	AG09319	gingival:	n/a	n/a
49	CTCF	chr6:70643374-70643376	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr6:70690620-70690770	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:70680703..70682726-chr6:70685209..70687558,2	K562	blood:
2	chr6:70624667..70626403-chr6:70626654..70628205,2	K562	blood:
3	chr6:70680703..70682726-chr6:70685209..70687558,2	K562	blood:
4	chr6:70669047..70671933-chr6:70674110..70676745,3	MCF-7	breast:
5	chr6:70661572..70663140-chr6:70670607..70672802,2	MCF-7	breast:
6	chr6:70637494..70639409-chr6:70659032..70661217,2	K562	blood:
7	chr6:70683823..70685555-chr6:70687830..70690193,2	K562	blood:
8	chr6:70624667..70626403-chr6:70626654..70628205,2	K562	blood:
9	chr6:70662410..70664369-chr6:70665696..70668642,2	K562	blood:
10	chr6:70664026..70665656-chr6:70667734..70669345,2	K562	blood:
11	chr6:70669047..70671933-chr6:70674110..70676745,3	MCF-7	breast:
12	chr6:70664026..70665656-chr6:70667734..70669345,2	K562	blood:
13	chr6:70683823..70685555-chr6:70687830..70690193,2	K562	blood:
14	chr6:70662410..70664369-chr6:70665696..70668642,2	K562	blood:
15	chr6:70646120..70647757-chr6:70648588..70650873,2	MCF-7	breast:
16	chr6:70656949..70658468-chr6:70663252..70666166,2	K562	blood:
17	chr6:70637673..70640119-chr6:70644404..70646417,2	K562	blood:
18	chr6:70661572..70663140-chr6:70670607..70672802,2	MCF-7	breast:
19	chr6:70637673..70640119-chr6:70644404..70646417,2	K562	blood:
20	chr6:70656949..70658468-chr6:70663252..70666166,2	K562	blood:
21	chr6:70637494..70639409-chr6:70659032..70661217,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM135A-5	chr6:70646764-70646802	NONHSAT113426
2	lnc-FAM135A-5	chr6:70683731-70684088	NONHSAT113426
3	lnc-FAM135A-5	chr6:70669888-70669932	NONHSAT113426
4	lnc-FAM135A-5	chr6:70647930-70647992	NONHSAT113426
5	lnc-FAM135A-5	chr6:70672718-70672762	NONHSAT113426

Variant related genes	Relation type
COL19A1	TF binding region
ENSG00000082293	chromatin interactions

Extended variants
information (count: 2445 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2445 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16868360	chr6:70625166-70625167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540994501	chr6:70625191-70625192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182418418	chr6:70625195-70625196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574462330	chr6:70625232-70625233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542895845	chr6:70625292-70625293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75943841	chr6:70625309-70625310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531742909	chr6:70625334-70625335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545303794	chr6:70625352-70625353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138608187	chr6:70625375-70625376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527703580	chr6:70625453-70625454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547747226	chr6:70625485-70625486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34338695	chr6:70625492-70625493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73746816	chr6:70625536-70625537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563277905	chr6:70625560-70625561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530201168	chr6:70625574-70625575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141239784	chr6:70625584-70625585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569876868	chr6:70625588-70625589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538803630	chr6:70625601-70625602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373393529	chr6:70625619-70625620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558914280	chr6:70625626-70625627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565961854	chr6:70625681-70625682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534357401	chr6:70625757-70625758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554542280	chr6:70625767-70625768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530611027	chr6:70625774-70625775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77345487	chr6:70625816-70625817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10707834	chr6:70625827-70625828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537150597	chr6:70625862-70625863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150780744	chr6:70625874-70625875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6929367	chr6:70625889-70625890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188642773	chr6:70625891-70625892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149549135	chr6:70625929-70625930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572682420	chr6:70625983-70625984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571288572	chr6:70626030-70626031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541105696	chr6:70626066-70626067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193275440	chr6:70626071-70626072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530003601	chr6:70626074-70626075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550313967	chr6:70626096-70626097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563745633	chr6:70626120-70626121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140670689	chr6:70626167-70626168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552388739	chr6:70626186-70626187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566408577	chr6:70626271-70626272	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538669008	chr6:70626306-70626307	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565878296	chr6:70626316-70626317	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144620794	chr6:70626453-70626454	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548139141	chr6:70626473-70626474	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568055669	chr6:70626490-70626491	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536607193	chr6:70626505-70626506	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556657556	chr6:70626535-70626536	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576505899	chr6:70626578-70626579	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564710107	chr6:70626597-70626598	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70605600-70627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:70622600-70630000	Weak transcription	GM12878-XiMat	blood
3	chr6:70623200-70625800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:70623800-70626200	Weak transcription	Primary B cells from cord blood	blood
5	chr6:70624000-70627800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:70624200-70625200	Weak transcription	Fetal Heart	heart
7	chr6:70624200-70626000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr6:70624200-70627600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:70624200-70627800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:70624200-70629000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:70624400-70625200	Weak transcription	Fetal Lung	lung
12	chr6:70624400-70627800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:70624800-70627400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:70624800-70627800	Weak transcription	HSMM	muscle
15	chr6:70625000-70625400	Enhancers	Fetal Intestine Small	intestine
16	chr6:70625200-70625400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:70625200-70625400	Enhancers	Fetal Lung	lung
18	chr6:70625200-70625600	Enhancers	Fetal Heart	heart
19	chr6:70625600-70642200	Weak transcription	Fetal Heart	heart
20	chr6:70626000-70626600	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:70626200-70628000	Genic enhancers	Primary B cells from cord blood	blood
22	chr6:70626600-70627200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:70627200-70628400	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr6:70627200-70629200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:70627200-70629200	Enhancers	NHDF-Ad	bronchial
26	chr6:70627400-70628400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:70627400-70629000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:70627400-70629200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:70627400-70629200	Enhancers	HMEC	breast
30	chr6:70627400-70629400	Enhancers	NHEK	skin
31	chr6:70627600-70628000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:70627800-70628200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:70627800-70628200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:70627800-70628200	Enhancers	HSMM	muscle
35	chr6:70627800-70628400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:70627800-70628400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:70627800-70628600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:70627800-70629000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:70627800-70629000	Enhancers	NH-A	brain
40	chr6:70627800-70629200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:70627800-70629200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:70628000-70632600	Weak transcription	Primary B cells from cord blood	blood
43	chr6:70628400-70633000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:70628600-70629000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:70629000-70629200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:70630200-70630400	ZNF genes & repeats	Small Intestine	intestine
47	chr6:70632600-70633200	Strong transcription	Primary B cells from cord blood	blood
48	chr6:70633000-70634000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
49	chr6:70633200-70634000	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr6:70633200-70634000	ZNF genes & repeats	GM12878-XiMat	blood

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