Variant report

Variant	nsv886163
Chromosome Location	chr6:74944460-75006170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:228)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:228 , 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	CEBPB	chr6:74973756-74973764	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:74952171-74952349	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr6:74999604-75000012	IMR90	lung:	n/a	chr6:74999810-74999827
4	CEBPB	chr6:74952095-74952381	IMR90	lung:	n/a	n/a
5	CEBPB	chr6:74963070-74963400	MCF-7	breast:	n/a	n/a
6	CEBPZ	chr6:74985570-74985693	HepG2	liver:	n/a	n/a
7	CTCF	chr6:74990120-74990270	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr6:74990060-74990210	HMF	breast:	n/a	n/a
9	CTCF	chr6:74990060-74990210	AG04449	skin:	n/a	n/a
10	CTCF	chr6:74990120-74990270	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr6:74990096-74990307	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:74990180-74990330	HEK293	kidney:	n/a	n/a
13	CTCF	chr6:74990120-74990270	NB4	blood:	n/a	n/a
14	CTCF	chr6:74990140-74990290	AG09309	skin:	n/a	n/a
15	CTCF	chr6:74949660-74949810	AG10803	skin:	n/a	n/a
16	CTCF	chr6:74989600-74989750	NHEK	skin:	n/a	chr6:74989638-74989647
17	CTCF	chr6:74965404-74965419	Fibrobl	skin:	n/a	n/a
18	CTCF	chr6:74990220-74990370	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr6:74990107-74990249	HepG2	liver:	n/a	n/a
20	CTCF	chr6:74990120-74990270	Caco-2	colon:	n/a	n/a
21	CTCF	chr6:74990160-74990310	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr6:74999160-74999310	NHDF-neo	bronchial:	n/a	chr6:74999245-74999258
23	CTCF	chr6:74990060-74990210	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr6:74990120-74990270	AG10803	skin:	n/a	n/a
25	CTCF	chr6:74989720-74989870	GM06990	blood:	n/a	n/a
26	CTCF	chr6:74990100-74990250	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr6:74990040-74990190	RPTEC	kidney:	n/a	n/a
28	CTCF	chr6:74990100-74990250	SAEC	small airway:	n/a	n/a
29	CTCF	chr6:74990024-74990288	IMR90	lung:	n/a	n/a
30	CTCF	chr6:74990100-74990250	NHEK	skin:	n/a	n/a
31	CTCF	chr6:74989620-74989770	GM12866	blood:	n/a	chr6:74989638-74989647
32	CTCF	chr6:74989560-74989710	HPAF	blood vessel:	n/a	chr6:74989638-74989647
33	CTCF	chr6:74990120-74990270	AG09319	gingival:	n/a	n/a
34	CTCF	chr6:74990080-74990230	HRE	kidney:	n/a	n/a
35	CTCF	chr6:74990100-74990250	HFF	foreskin:	n/a	n/a
36	CTCF	chr6:74990120-74990270	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr6:74990140-74990290	AG04450	lung:	n/a	n/a
38	CTCF	chr6:74990100-74990250	HAc	cerebellar:	n/a	n/a
39	CTCF	chr6:74990180-74990330	GM12866	blood:	n/a	n/a
40	CTCF	chr6:74990068-74990326	MCF-7	breast:	n/a	n/a
41	CTCF	chr6:74990083-74990292	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr6:74990040-74990190	MCF-7	breast:	n/a	n/a
43	CTCF	chr6:74989800-74989950	HEK293	kidney:	n/a	n/a
44	CTCF	chr6:74990160-74990310	HCM	heart:	n/a	n/a
45	CTCF	chr6:74990128-74990263	A549	lung:	n/a	n/a
46	CTCF	chr6:74990080-74990230	AG04449	skin:	n/a	n/a
47	CTCF	chr6:74990140-74990290	BJ	skin:	n/a	n/a
48	CTCF	chr6:74990120-74990270	HRE	kidney:	n/a	n/a
49	CTCF	chr6:74990157-74990244	A549	lung:	n/a	n/a
50	CTCF	chr6:74989640-74989790	HMF	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:74978996-74979046	HUVEC	blood vessel:	n/a
2	chr6:74978996-74979046	HNPCEpiC	eye:	n/a
3	chr6:74978996-74979046	HL-60	blood:	n/a
4	chr6:74960030-74960080	SK-N-SH	brain:	n/a
5	chr6:74978996-74979046	HEK293	kidney:	embryo
6	chr6:74998385-74998435	HCT-116	colon:	n/a
7	chr6:74965323-74965373	GM06990	blood:	n/a
8	chr6:74965323-74965373	SKMC	muscle:	n/a
9	chr6:74960030-74960080	Hepatocyte	liver:	n/a
10	chr6:74978996-74979046	CMK	blood:	n/a
11	chr6:74987753-74987803	BE2_C	brain:	n/a
12	chr6:74998385-74998435	HRPEpiC	eye:	n/a
13	chr6:74978996-74979046	SK-N-MC	brain:	n/a
14	chr6:74960030-74960080	MCF10A-Er-Src	breast:	n/a
15	chr6:74978996-74979046	SK-N-SH_RA	brain:	n/a
16	chr6:74978996-74979046	HCPEpiC	choroid plexus:	n/a
17	chr6:74978996-74979046	NB4	blood:	n/a
18	chr6:74965323-74965373	HRPEpiC	eye:	n/a
19	chr6:74960030-74960080	NHDF-neo	bronchial:	n/a
20	chr6:74998385-74998435	U87	brain:	n/a
21	chr6:74960030-74960080	HIPEpiC	eye:	n/a
22	chr6:74960030-74960080	GM19239	blood:	n/a
23	chr6:74965323-74965373	HRE	kidney:	n/a
24	chr6:74960030-74960080	AG09309	skin:	n/a
25	chr6:74978996-74979046	Jurkat	blood:	n/a
26	chr6:74978996-74979046	PrEC	prostate:	n/a
27	chr6:74998385-74998435	GM06990	blood:	n/a
28	chr6:74965323-74965373	NT2-D1	testis:	n/a
29	chr6:74987753-74987803	AoSMC	blood vessel:	n/a
30	chr6:74998385-74998435	HL-60	blood:	n/a
31	chr6:74978996-74979046	AG10803	skin:	n/a
32	chr6:74998385-74998435	PANC-1	pancreas:	n/a
33	chr6:74978996-74979046	RPTEC	kidney:	n/a
34	chr6:74965323-74965373	HEEpiC	esophagus:	n/a
35	chr6:74978996-74979046	SKMC	muscle:	n/a
36	chr6:74998385-74998435	AG10803	skin:	n/a
37	chr6:74960030-74960080	HAEpiC	amniotic membrane:	n/a
38	chr6:74998385-74998435	SAEC	small airway:	n/a
39	chr6:74998385-74998435	K562	blood:	n/a
40	chr6:74998385-74998435	CMK	blood:	n/a
41	chr6:74960030-74960080	ovcar-3	ovarian:	n/a
42	chr6:74987753-74987803	Caco-2	colon:	n/a
43	chr6:74965323-74965373	GM19239	blood:	n/a
44	chr6:74987753-74987803	ProgFib	skin:	n/a
45	chr6:74960030-74960080	HCM	heart:	n/a
46	chr6:74960030-74960080	HCPEpiC	choroid plexus:	n/a
47	chr6:74960030-74960080	NHBE	bronchial:	n/a
48	chr6:74965323-74965373	BE2_C	brain:	n/a
49	chr6:74960030-74960080	IMR90	lung:	fetal
50	chr6:74978996-74979046	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000217178	TF binding region
ENSG00000217178	CpG island

Extended variants
information (count: 1675 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1675 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2351775	chr6:74958015-74958016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551962602	chr6:74958024-74958025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189294661	chr6:74958031-74958032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368019541	chr6:74958088-74958089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149458289	chr6:74958105-74958106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370792782	chr6:74958152-74958153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144099772	chr6:74958175-74958176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568318577	chr6:74958188-74958189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535771839	chr6:74958206-74958207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77974928	chr6:74958209-74958210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180897636	chr6:74958216-74958217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534227936	chr6:74958313-74958314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375329097	chr6:74958377-74958378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558780358	chr6:74958416-74958417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368853492	chr6:74958417-74958418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185781255	chr6:74958426-74958427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77162337	chr6:74958446-74958447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564763317	chr6:74958477-74958478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368569823	chr6:74958542-74958543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574756353	chr6:74958564-74958565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542100568	chr6:74958569-74958570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144378051	chr6:74958577-74958578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3898585	chr6:74958588-74958589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576496992	chr6:74958591-74958592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144047105	chr6:74958592-74958593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574581417	chr6:74958595-74958596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527283633	chr6:74958604-74958605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545820744	chr6:74958666-74958667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571019992	chr6:74958670-74958671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369295899	chr6:74958698-74958699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5877410	chr6:74958699-74958700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546158287	chr6:74958707-74958708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114199162	chr6:74958759-74958760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568279942	chr6:74958809-74958810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372138178	chr6:74958840-74958841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192295586	chr6:74958859-74958860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147398486	chr6:74958860-74958861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549340839	chr6:74958873-74958874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553018698	chr6:74958919-74958920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533932885	chr6:74958979-74958980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558913016	chr6:74959032-74959033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570829322	chr6:74959070-74959071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550765441	chr6:74959094-74959095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3898077	chr6:74959122-74959123	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574668456	chr6:74959160-74959161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567568533	chr6:74959175-74959176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542063665	chr6:74959181-74959182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554157133	chr6:74959228-74959229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572706539	chr6:74959267-74959268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545437443	chr6:74959371-74959372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
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
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74958000-74958200	Enhancers	NHLF	lung
2	chr6:74958000-74959000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:74958000-74961400	Enhancers	HUVEC	blood vessel
4	chr6:74958800-74959600	Enhancers	HMEC	breast
5	chr6:74958800-74959800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:74958800-74960400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:74958800-74960800	Enhancers	NHEK	skin
8	chr6:74958800-74961400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:74959000-74959400	Enhancers	Fetal Intestine Small	intestine
10	chr6:74959000-74959600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:74959000-74961200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:74959200-74961600	Enhancers	Fetal Intestine Large	intestine
13	chr6:74959400-74959600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:74959400-74960400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:74959400-74960600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:74959400-74961200	Weak transcription	Fetal Intestine Small	intestine
17	chr6:74959600-74963400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:74959800-74960200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:74960000-74960400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr6:74960000-74960400	Enhancers	NHLF	lung
21	chr6:74960000-74961400	Enhancers	HepG2	liver
22	chr6:74960200-74960600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:74960200-74961400	Enhancers	Fetal Stomach	stomach
24	chr6:74960400-74961200	Weak transcription	NHLF	lung
25	chr6:74960400-74961600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:74960400-74965600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:74960800-74961200	Weak transcription	NHEK	skin
28	chr6:74961200-74961400	Enhancers	NHEK	skin
29	chr6:74961200-74961400	Enhancers	NHLF	lung
30	chr6:74961200-74961600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:74961200-74961600	Enhancers	Adipose Nuclei	Adipose
32	chr6:74961200-74961600	Enhancers	Fetal Intestine Small	intestine
33	chr6:74961200-74961600	Enhancers	Fetal Muscle Trunk	muscle
34	chr6:74961200-74961800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:74961200-74962000	Enhancers	Colon Smooth Muscle	Colon
36	chr6:74961200-74962000	Enhancers	Stomach Smooth Muscle	stomach
37	chr6:74961400-74961800	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:74961400-74963200	Weak transcription	NHEK	skin
39	chr6:74961400-74966400	Weak transcription	NHLF	lung
40	chr6:74961600-74962200	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:74961600-74966600	Weak transcription	Adipose Nuclei	Adipose
42	chr6:74961800-74966600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:74963200-74964000	Enhancers	NHEK	skin
44	chr6:74963400-74964000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:74964800-74965000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:74965000-74967400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:74965600-74965800	Enhancers	Fetal Muscle Leg	muscle
48	chr6:74965600-74966800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:74965600-74967000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:74965600-74967000	Enhancers	Fetal Stomach	stomach

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