Variant report

Variant	nsv884079
Chromosome Location	chr6:30435288-30447987
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	ATF3	chr6:30438818-30439151	K562	blood:	n/a	n/a
2	CEBPB	chr6:30438803-30439128	HepG2	liver:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
3	CEBPB	chr6:30438786-30439148	K562	blood:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
4	CEBPB	chr6:30438777-30439163	Hela-S3	cervix:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
5	CEBPB	chr6:30438794-30439097	A549	lung:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
6	CEBPB	chr6:30438765-30439122	K562	blood:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
7	CEBPB	chr6:30438805-30439103	H1-hESC	embryonic stem cell:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
8	CEBPB	chr6:30438780-30439151	IMR90	lung:	n/a	chr6:30439061-30439074 chr6:30438959-30438970
9	CTCF	chr6:30439665-30439743	Kidney_OC	kidney:	n/a	n/a
10	EP300	chr6:30438808-30439053	Hela-S3	cervix:	n/a	chr6:30438960-30438974
11	EP300	chr6:30438886-30439072	K562	blood:	n/a	chr6:30438960-30438974 chr6:30439050-30439060
12	FAM48A	chr6:30447891-30447964	GM12878	blood:	n/a	n/a
13	FOS	chr6:30447832-30448128	MCF10A-Er-Src	breast:	n/a	chr6:30447979-30447988
14	FOS	chr6:30447811-30448127	MCF10A-Er-Src	breast:	n/a	chr6:30447979-30447988
15	FOS	chr6:30447815-30448125	MCF10A-Er-Src	breast:	n/a	chr6:30447979-30447988
16	FOS	chr6:30447837-30448073	MCF10A-Er-Src	breast:	n/a	chr6:30447979-30447988
17	JUN	chr6:30438794-30439088	HepG2	liver:	n/a	chr6:30438960-30438973
18	JUN	chr6:30447972-30447995	H1-hESC	embryonic stem cell:	n/a	chr6:30447979-30447988
19	JUND	chr6:30438844-30439033	K562	blood:	n/a	n/a
20	JUND	chr6:30447932-30448040	HepG2	liver:	n/a	chr6:30447979-30447988 chr6:30447977-30447988
21	JUND	chr6:30438834-30439096	HepG2	liver:	n/a	n/a
22	MYC	chr6:30447979-30448086	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr6:30438881-30438931	H1-hESC	embryonic stem cell:	n/a	n/a
24	NR2F2	chr6:30443290-30443770	K562	blood:	n/a	n/a
25	NR2F2	chr6:30443387-30443754	K562	blood:	n/a	n/a
26	PAX5	chr6:30442332-30442564	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:30436614-30436773	ProgFib	skin:	n/a	n/a
28	POLR2A	chr6:30440194-30440304	ProgFib	skin:	n/a	n/a
29	STAT3	chr6:30447901-30448022	MCF10A-Er-Src	breast:	n/a	n/a
30	ZNF263	chr6:30435081-30435395	HEK293-T-REx	kidney:	n/a	chr6:30435186-30435207

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30437493-30437543	HNPCEpiC	eye:	n/a
2	chr6:30437493-30437543	H1-hESC	embryonic stem cell:	embryo
3	chr6:30437493-30437543	A549	lung:	n/a
4	chr6:30437493-30437543	IMR90	lung:	fetal
5	chr6:30437493-30437543	AG10803	skin:	n/a
6	chr6:30437493-30437543	AG09319	gingival:	n/a
7	chr6:30437493-30437543	MCF-7	breast:	n/a
8	chr6:30437493-30437543	RPTEC	kidney:	n/a
9	chr6:30437493-30437543	U87	brain:	n/a
10	chr6:30437493-30437543	MCF10A-Er-Src	breast:	n/a
11	chr6:30437493-30437543	SK-N-SH_RA	brain:	n/a
12	chr6:30437493-30437543	AG09309	skin:	n/a
13	chr6:30437493-30437543	HRCEpiC	kidney:	n/a
14	chr6:30437493-30437543	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:30437493-30437543	Caco-2	colon:	n/a
16	chr6:30437493-30437543	HCT-116	colon:	n/a
17	chr6:30437493-30437543	NT2-D1	testis:	n/a
18	chr6:30437493-30437543	PrEC	prostate:	n/a
19	chr6:30437493-30437543	K562	blood:	n/a
20	chr6:30437493-30437543	SK-N-MC	brain:	n/a
21	chr6:30437493-30437543	BE2_C	brain:	n/a
22	chr6:30437493-30437543	ProgFib	skin:	n/a
23	chr6:30437493-30437543	AoSMC	blood vessel:	n/a
24	chr6:30437493-30437543	SKMC	muscle:	n/a
25	chr6:30437493-30437543	HRPEpiC	eye:	n/a
26	chr6:30437493-30437543	GM12878	blood:	n/a
27	chr6:30437493-30437543	ovcar-3	ovarian:	n/a
28	chr6:30437493-30437543	HepG2	liver:	n/a
29	chr6:30437493-30437543	LNCaP	prostate:	n/a
30	chr6:30437493-30437543	HL-60	blood:	n/a
31	chr6:30437493-30437543	Jurkat	blood:	n/a
32	chr6:30437493-30437543	HUVEC	blood vessel:	n/a
33	chr6:30437493-30437543	GM06990	blood:	n/a
34	chr6:30437493-30437543	ECC-1	luminal epithelium:	n/a
35	chr6:30437493-30437543	HCF	heart:	n/a
36	chr6:30437493-30437543	HIPEpiC	eye:	n/a
37	chr6:30437493-30437543	GM12891	blood:	n/a
38	chr6:30437493-30437543	T-47D	breast:	n/a
39	chr6:30437493-30437543	AG04449	skin:	fetal
40	chr6:30437493-30437543	PFSK-1	brain:	n/a
41	chr6:30437493-30437543	BJ	skin:	n/a
42	chr6:30437493-30437543	HEK293	kidney:	embryo
43	chr6:30437493-30437543	CMK	blood:	n/a
44	chr6:30437493-30437543	SK-N-SH	brain:	n/a
45	chr6:30437493-30437543	NHDF-neo	bronchial:	n/a
46	chr6:30437493-30437543	HRE	kidney:	n/a
47	chr6:30437493-30437543	GM12892	blood:	n/a
48	chr6:30437493-30437543	NH-A	brain:	n/a
49	chr6:30437493-30437543	NHBE	bronchial:	n/a
50	chr6:30437493-30437543	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30447631..30450065-chr6:30691817..30695001,3	K562	blood:
2	chr6:30447476..30449412-chr6:30509865..30511998,2	K562	blood:
3	chr6:30433130..30435301-chr6:30582917..30586018,4	MCF-7	breast:
4	chr6:30431634..30435485-chr6:30582972..30586314,3	K562	blood:
5	chr6:30428958..30430493-chr6:30439620..30441525,2	MCF-7	breast:
6	chr6:30447949..30451648-chr6:30569801..30572499,4	MCF-7	breast:
7	chr6:30446384..30451689-chr6:30578094..30585004,12	MCF-7	breast:
8	chr6:30446515..30448275-chr6:30457111..30458820,2	K562	blood:
9	chr6:30446309..30448997-chr6:30451629..30454419,2	MCF-7	breast:
10	chr6:30447797..30449612-chr6:30512660..30515323,2	MCF-7	breast:

Variant related genes	Relation type
SUCLA2P1	TF binding region
SUCLA2P1	CpG island
ENSG00000204569	chromatin interactions
ENSG00000204592	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000204568	chromatin interactions
ENSG00000236603	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6930977	chr6:30435288-30435289	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568284987	chr6:30435398-30435399	Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs556684427	chr6:30435443-30435444	Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs142300195	chr6:30435453-30435454	Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs542216840	chr6:30435458-30435459	Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs559315383	chr6:30435470-30435471	Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs557751463	chr6:30435509-30435510	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555047141	chr6:30435562-30435563	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527957962	chr6:30435621-30435622	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs546665058	chr6:30435631-30435632	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs375920180	chr6:30435674-30435675	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs147905164	chr6:30435751-30435752	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs533614315	chr6:30435776-30435777	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs191810662	chr6:30435778-30435779	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs2516669	chr6:30435801-30435802	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs560380794	chr6:30435862-30435863	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs547616599	chr6:30435873-30435874	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs115794740	chr6:30435878-30435879	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs12214645	chr6:30435930-30435931	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115164168	chr6:30435945-30435946	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs115787549	chr6:30446493-30446494	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554003434	chr6:30446521-30446522	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs368890174	chr6:30446522-30446523	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs545983615	chr6:30446526-30446527	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs562404762	chr6:30446540-30446541	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs117142007	chr6:30446560-30446561	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs115101222	chr6:30446570-30446571	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs561375615	chr6:30446578-30446579	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs368392469	chr6:30446590-30446591	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs375640348	chr6:30446616-30446617	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs530319759	chr6:30446641-30446642	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs546935541	chr6:30446659-30446660	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs190004112	chr6:30446682-30446683	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs532556264	chr6:30446769-30446770	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs181202343	chr6:30446821-30446822	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs569223210	chr6:30446869-30446870	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs74223639	chr6:30446871-30446872	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs554653259	chr6:30446882-30446883	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs7775268	chr6:30446963-30446964	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs115453734	chr6:30447010-30447011	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs375594581	chr6:30447019-30447020	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs373909357	chr6:30447024-30447025	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs186405738	chr6:30447133-30447134	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs560421333	chr6:30447189-30447190	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs547172047	chr6:30447208-30447209	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs143146114	chr6:30447240-30447241	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs565707854	chr6:30447297-30447298	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs545647081	chr6:30447305-30447306	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs556345645	chr6:30447309-30447310	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs200082139	chr6:30447345-30447346	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
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
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
Ovarian cancer	21781307	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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30434600-30435400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:30434800-30435400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:30434800-30435400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr6:30434800-30435400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:30434800-30435400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
6	chr6:30434800-30435400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
7	chr6:30434800-30435600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr6:30434800-30435600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr6:30434800-30435600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:30434800-30435600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:30434800-30435600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:30434800-30435600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:30435000-30435400	Bivalent Enhancer	Primary T cells from cord blood	blood
14	chr6:30435000-30435400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr6:30435000-30435400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr6:30435200-30435400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr6:30435200-30435400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr6:30435200-30435400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr6:30435200-30435400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:30435200-30435600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:30435200-30435600	Bivalent Enhancer	Colonic Mucosa	Colon
22	chr6:30435200-30436000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr6:30447800-30448200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:30447800-30448400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:30447800-30450200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood

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