Variant report

Variant	nsv966676
Chromosome Location	chr6:29326915-29365789
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	ARID3A	chr6:29343963-29344143	HepG2	liver:	n/a	n/a
2	BHLHE40	chr6:29360327-29360333	GM12878	blood:	n/a	n/a
3	CEBPB	chr6:29360784-29360961	K562	blood:	n/a	n/a
4	CEBPB	chr6:29351426-29351582	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:29360794-29360885	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:29343940-29344090	HepG2	liver:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
7	CTCF	chr6:29343620-29343770	GM12865	blood:	n/a	n/a
8	CTCF	chr6:29343920-29344070	GM12872	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
9	CTCF	chr6:29343880-29344030	HPAF	blood vessel:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
10	CTCF	chr6:29343840-29343990	HBMEC	blood vessel:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
11	CTCF	chr6:29343889-29344049	GM12878	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
12	CTCF	chr6:29343920-29344070	HRPEpiC	eye:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
13	CTCF	chr6:29343947-29344031	GM13977	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
14	CTCF	chr6:29343880-29344030	GM06990	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
15	CTCF	chr6:29343936-29344061	GM10266	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
16	CTCF	chr6:29343940-29344090	GM12865	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
17	CTCF	chr6:29343822-29344082	K562	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
18	CTCF	chr6:29343800-29343950	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr6:29343940-29344060	Gliobla	brain:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
20	CTCF	chr6:29337962-29338015	GM10248	blood:	n/a	n/a
21	CTCF	chr6:29343920-29344070	HCPEpiC	choroid plexus:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
22	CTCF	chr6:29343848-29344044	H1-hESC	embryonic stem cell:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
23	CTCF	chr6:29343920-29344070	RPTEC	kidney:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
24	CTCF	chr6:29343880-29344030	HCPEpiC	choroid plexus:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
25	CTCF	chr6:29343900-29344050	Hela-S3	cervix:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
26	CTCF	chr6:29343880-29344030	Hela-S3	cervix:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
27	CTCF	chr6:29343720-29343870	GM12873	blood:	n/a	n/a
28	CTCF	chr6:29343920-29344070	WERI-Rb-1	eye:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
29	CTCF	chr6:29343860-29344010	HEEpiC	esophagus:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
30	CTCF	chr6:29343840-29343990	GM12872	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
31	CTCF	chr6:29343858-29344071	K562	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
32	CTCF	chr6:29347431-29347509	Fibrobl	skin:	n/a	n/a
33	CTCF	chr6:29343900-29344050	HRE	kidney:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
34	CTCF	chr6:29343920-29344070	HCT-116	colon:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
35	CTCF	chr6:29343900-29344050	MCF-7	breast:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
36	CTCF	chr6:29343707-29344164	MCF-7	breast:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
37	CTCF	chr6:29343920-29344070	HCFaa	heart:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
38	CTCF	chr6:29332547-29332619	GM10248	blood:	n/a	n/a
39	CTCF	chr6:29343908-29344052	Hela-S3	cervix:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
40	CTCF	chr6:29343914-29344047	Medullo	brain:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
41	CTCF	chr6:29343933-29344041	MCF-7	breast:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
42	CTCF	chr6:29343884-29344055	HepG2	liver:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
43	CTCF	chr6:29343918-29344048	LNCaP	prostate:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
44	CTCF	chr6:29343925-29344026	K562	blood:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
45	CTCF	chr6:29343840-29343990	SAEC	small airway:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
46	CTCF	chr6:29343937-29344033	HepG2	liver:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
47	CTCF	chr6:29343820-29343970	A549	lung:	n/a	chr6:29343950-29343968
48	CTCF	chr6:29343900-29344050	HEEpiC	esophagus:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
49	CTCF	chr6:29343942-29344056	NHEK	skin:	n/a	chr6:29343952-29343973 chr6:29343950-29343968
50	CTCF	chr6:29343894-29344096	A549	lung:	n/a	chr6:29343952-29343973 chr6:29343950-29343968

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29364418-29364468	MCF10A-Er-Src	breast:	n/a
2	chr6:29364418-29364468	MCF10A-Er-Src	breast:	n/a
3	chr6:29342815-29342865	HUVEC	blood vessel:	n/a
4	chr6:29364799-29364849	HRE	kidney:	n/a
5	chr6:29342824-29342874	Jurkat	blood:	n/a
6	chr6:29342706-29342756	AG09319	gingival:	n/a
7	chr6:29365261-29365311	Jurkat	blood:	n/a
8	chr6:29342679-29342729	GM12891	blood:	n/a
9	chr6:29365261-29365311	HRCEpiC	kidney:	n/a
10	chr6:29364554-29364604	Caco-2	colon:	n/a
11	chr6:29365287-29365337	SK-N-MC	brain:	n/a
12	chr6:29341892-29341942	RPTEC	kidney:	n/a
13	chr6:29342824-29342874	SK-N-SH_RA	brain:	n/a
14	chr6:29364554-29364604	A549	lung:	n/a
15	chr6:29364799-29364849	HepG2	liver:	n/a
16	chr6:29365261-29365311	SKMC	muscle:	n/a
17	chr6:29341894-29341944	SK-N-MC	brain:	n/a
18	chr6:29365261-29365311	NHBE	bronchial:	n/a
19	chr6:29342824-29342874	K562	blood:	n/a
20	chr6:29342630-29342680	AG09309	skin:	n/a
21	chr6:29364435-29364485	RPTEC	kidney:	n/a
22	chr6:29364418-29364468	AG09319	gingival:	n/a
23	chr6:29365261-29365311	AG09309	skin:	n/a
24	chr6:29365261-29365311	NH-A	brain:	n/a
25	chr6:29341894-29341944	ovcar-3	ovarian:	n/a
26	chr6:29364435-29364485	SKMC	muscle:	n/a
27	chr6:29342605-29342655	AG04449	skin:	fetal
28	chr6:29364174-29364224	HAEpiC	amniotic membrane:	n/a
29	chr6:29364987-29365037	HepG2	liver:	n/a
30	chr6:29342522-29342572	Caco-2	colon:	n/a
31	chr6:29364554-29364604	ovcar-3	ovarian:	n/a
32	chr6:29364602-29364652	HL-60	blood:	n/a
33	chr6:29364818-29364868	Hela-S3	cervix:	n/a
34	chr6:29342815-29342865	AG04449	skin:	fetal
35	chr6:29354997-29355047	HCF	heart:	n/a
36	chr6:29342522-29342572	A549	lung:	n/a
37	chr6:29365287-29365337	PrEC	prostate:	n/a
38	chr6:29365078-29365128	CMK	blood:	n/a
39	chr6:29342533-29342583	AG10803	skin:	n/a
40	chr6:29342605-29342655	H1-hESC	embryonic stem cell:	embryo
41	chr6:29364799-29364849	HCF	heart:	n/a
42	chr6:29342630-29342680	SK-N-SH	brain:	n/a
43	chr6:29354997-29355047	CMK	blood:	n/a
44	chr6:29364799-29364849	LNCaP	prostate:	n/a
45	chr6:29342522-29342572	SK-N-SH_RA	brain:	n/a
46	chr6:29342679-29342729	BJ	skin:	n/a
47	chr6:29365078-29365128	IMR90	lung:	fetal
48	chr6:29364818-29364868	A549	lung:	n/a
49	chr6:29342522-29342572	BE2_C	brain:	n/a
50	chr6:29341892-29341942	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:29332977..29335770-chr6:29360286..29362629,2	K562	blood:
2	chr6:29343821..29344378-chr6:29664074..29664947,2	MCF-7	breast:
3	chr6:29357893..29360361-chr6:29362653..29364829,2	K562	blood:
4	chr6:29332977..29335770-chr6:29360286..29362629,2	K562	blood:
5	chr6:29358589..29361561-chr6:29362691..29365009,2	K562	blood:
6	chr6:29343538..29344515-chr6:29556985..29557870,6	MCF-7	breast:
7	chr6:29343942..29344473-chr6:29556992..29557505,2	MCF-7	breast:

Variant related genes	Relation type
OR5V1	TF binding region
OR12D3	TF binding region
OR12D2	TF binding region
OR5V1	CpG island
OR12D3	CpG island
OR12D2	CpG island
ENSG00000168787	chromatin interactions

Extended variants
information (count: 226 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148925900	chr6:29326925-29326926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs143659498	chr6:29326926-29326927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs571259438	chr6:29326937-29326938	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537107948	chr6:29326946-29326947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190691064	chr6:29326995-29326996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373825768	chr6:29327005-29327006	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561251519	chr6:29343624-29343625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs184855472	chr6:29343738-29343739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs138519266	chr6:29343760-29343761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371810680	chr6:29343767-29343768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs566325660	chr6:29343835-29343836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs553746730	chr6:29343906-29343907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534831144	chr6:29343921-29343922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs528030486	chr6:29343924-29343925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs5003262	chr6:29343927-29343928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs573221881	chr6:29343928-29343929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs5003263	chr6:29343930-29343931	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs5003264	chr6:29343989-29343990	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562254607	chr6:29344006-29344007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190547158	chr6:29344030-29344031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs5003265	chr6:29344036-29344037	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563078931	chr6:29344051-29344052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs5003266	chr6:29344083-29344084	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs5003267	chr6:29344102-29344103	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536926290	chr6:29344156-29344157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs141558973	chr6:29344170-29344171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs28359953	chr6:29344179-29344180	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371487221	chr6:29344245-29344246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs9500946	chr6:29344246-29344247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs35878347	chr6:29344272-29344273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs191712884	chr6:29347049-29347050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs182669544	chr6:29347097-29347098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs16894798	chr6:29347122-29347123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs373161978	chr6:29347151-29347152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs532404829	chr6:29347185-29347186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs552516256	chr6:29347188-29347189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs533682451	chr6:29347334-29347335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs191381079	chr6:29347337-29347338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs184406217	chr6:29347398-29347399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376114277	chr6:29347406-29347407	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556106047	chr6:29347454-29347455	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs190447781	chr6:29347465-29347466	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs9257806	chr6:29347541-29347542	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73744660	chr6:29347581-29347582	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73409596	chr6:29347591-29347592	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541180159	chr6:29347729-29347730	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs142387265	chr6:29347736-29347737	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs376295221	chr6:29347773-29347774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72831417	chr6:29347791-29347792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370332999	chr6:29347814-29347815	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29347400-29348400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:29347600-29348000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:29354800-29355000	Enhancers	Pancreas	Pancrea
4	chr6:29358400-29358800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:29362000-29363000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:29362400-29363000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:29362600-29363000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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