Variant report

Variant	nsv603119
Chromosome Location	chr6:53929484-53947087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:53936826-53937112	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr6:53937860-53938018	HepG2	liver:	n/a	n/a
3	CEBPB	chr6:53937815-53937982	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr6:53936747-53937174	IMR90	lung:	n/a	chr6:53937019-53937030
5	CEBPB	chr6:53941019-53941213	IMR90	lung:	n/a	n/a
6	CEBPB	chr6:53936663-53937131	HepG2	liver:	n/a	chr6:53937019-53937030
7	CEBPB	chr6:53936979-53937060	A549	lung:	n/a	chr6:53937019-53937030
8	CEBPB	chr6:53936791-53937133	H1-hESC	embryonic stem cell:	n/a	chr6:53937019-53937030
9	CEBPB	chr6:53941007-53941256	HepG2	liver:	n/a	n/a
10	CTCF	chr6:53933620-53933770	RPTEC	kidney:	n/a	n/a
11	CTCF	chr6:53935242-53935284	GM20000	blood:	n/a	n/a
12	CTCF	chr6:53933580-53933730	HMEC	breast:	n/a	n/a
13	CTCF	chr6:53933664-53933744	Hela-S3	cervix:	n/a	n/a
14	FOS	chr6:53936781-53937128	HUVEC	blood vessel:	n/a	chr6:53936981-53936992 chr6:53936947-53936958
15	FOXA2	chr6:53940958-53941270	HepG2	liver:	n/a	n/a
16	MAFF	chr6:53941091-53941117	HepG2	liver:	n/a	n/a
17	MAFK	chr6:53941004-53941169	HepG2	liver:	n/a	n/a
18	MAFK	chr6:53939250-53939398	HepG2	liver:	n/a	chr6:53939329-53939343 chr6:53939331-53939342 chr6:53939331-53939342
19	MAX	chr6:53938363-53938572	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:53929982-53930001	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:53938914-53939256	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr6:53941033-53941684	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr6:53937344-53937831	SK-N-MC	brain:	n/a	n/a
24	REST	chr6:53938416-53938616	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr6:53938849-53939199	H1-neurons	neurons:	n/a	n/a
26	REST	chr6:53934840-53935088	PFSK-1	brain:	n/a	n/a
27	SPI1	chr6:53939424-53939851	HL-60	blood:	n/a	chr6:53939709-53939722
28	TEAD4	chr6:53939358-53939694	H1-hESC	embryonic stem cell:	n/a	n/a
29	USF1	chr6:53943109-53943238	GM12878	blood:	n/a	n/a
30	ZNF143	chr6:53939097-53939172	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:53939321-53939371	A549	lung:	n/a
2	chr6:53939321-53939371	AG09319	gingival:	n/a
3	chr6:53939321-53939371	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:53939321-53939371	AoSMC	blood vessel:	n/a
5	chr6:53939321-53939371	AG04450	lung:	fetal
6	chr6:53939321-53939371	HUVEC	blood vessel:	n/a
7	chr6:53939321-53939371	HCF	heart:	n/a
8	chr6:53939321-53939371	HepG2	liver:	n/a
9	chr6:53939321-53939371	HCPEpiC	choroid plexus:	n/a
10	chr6:53939321-53939371	GM12878	blood:	n/a
11	chr6:53939321-53939371	BE2_C	brain:	n/a
12	chr6:53939321-53939371	HEEpiC	esophagus:	n/a
13	chr6:53939321-53939371	NH-A	brain:	n/a
14	chr6:53939321-53939371	HCM	heart:	n/a
15	chr6:53939321-53939371	HRPEpiC	eye:	n/a
16	chr6:53939321-53939371	Hela-S3	cervix:	n/a
17	chr6:53939321-53939371	CMK	blood:	n/a
18	chr6:53939321-53939371	NT2-D1	testis:	n/a
19	chr6:53939321-53939371	GM06990	blood:	n/a
20	chr6:53939321-53939371	Jurkat	blood:	n/a
21	chr6:53939321-53939371	T-47D	breast:	n/a
22	chr6:53939321-53939371	MCF-7	breast:	n/a
23	chr6:53939321-53939371	SK-N-MC	brain:	n/a
24	chr6:53939321-53939371	H1-hESC	embryonic stem cell:	embryo
25	chr6:53939321-53939371	SKMC	muscle:	n/a
26	chr6:53939321-53939371	ProgFib	skin:	n/a
27	chr6:53939321-53939371	HRCEpiC	kidney:	n/a
28	chr6:53939321-53939371	AG09309	skin:	n/a
29	chr6:53939321-53939371	Hepatocyte	liver:	n/a
30	chr6:53939321-53939371	LNCaP	prostate:	n/a
31	chr6:53939321-53939371	HEK293	kidney:	embryo
32	chr6:53939321-53939371	SK-N-SH_RA	brain:	n/a
33	chr6:53939321-53939371	MCF10A-Er-Src	breast:	n/a
34	chr6:53939321-53939371	SK-N-SH	brain:	n/a
35	chr6:53939321-53939371	BJ	skin:	n/a
36	chr6:53939321-53939371	RPTEC	kidney:	n/a
37	chr6:53939321-53939371	Caco-2	colon:	n/a
38	chr6:53939321-53939371	PANC-1	pancreas:	n/a
39	chr6:53939321-53939371	AG10803	skin:	n/a
40	chr6:53939321-53939371	PrEC	prostate:	n/a
41	chr6:53939321-53939371	ECC-1	luminal epithelium:	n/a
42	chr6:53939321-53939371	HNPCEpiC	eye:	n/a
43	chr6:53939321-53939371	PFSK-1	brain:	n/a
44	chr6:53939321-53939371	HMEC	breast:	n/a
45	chr6:53939321-53939371	NB4	blood:	n/a
46	chr6:53939321-53939371	HL-60	blood:	n/a
47	chr6:53939321-53939371	IMR90	lung:	fetal
48	chr6:53939321-53939371	SAEC	small airway:	n/a
49	chr6:53939321-53939371	GM19239	blood:	n/a
50	chr6:53939321-53939371	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53857425..53857943-chr6:53933277..53933955,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL31-3	chr6:53944324-53944524	ENSG00000235050.2

No data

Variant related genes	Relation type
MLIP-AS1	TF binding region
MLIP	TF binding region
MLIP-AS1	CpG island
MLIP	CpG island

Extended variants
information (count: 566 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12523824	chr6:53929484-53929485	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566249227	chr6:53929545-53929546	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115464184	chr6:53929579-53929580	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115586798	chr6:53929591-53929592	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374686716	chr6:53929797-53929798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537730382	chr6:53929948-53929949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192244123	chr6:53930042-53930043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183658844	chr6:53930043-53930044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149989712	chr6:53930046-53930047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576551136	chr6:53930051-53930052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188373041	chr6:53930070-53930071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191874750	chr6:53930093-53930094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558990341	chr6:53930205-53930206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116323549	chr6:53930272-53930273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79023834	chr6:53930288-53930289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532034500	chr6:53930293-53930294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112956972	chr6:53930311-53930312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377765655	chr6:53930383-53930384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548022896	chr6:53930408-53930409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184305265	chr6:53930410-53930411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200477991	chr6:53930441-53930442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61589182	chr6:53930456-53930457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540427636	chr6:53930473-53930474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150803488	chr6:53930488-53930489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559774339	chr6:53930520-53930521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9382282	chr6:53930541-53930542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551898179	chr6:53930564-53930565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58947839	chr6:53930700-53930701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111532453	chr6:53930742-53930743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190131246	chr6:53930933-53930934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145394546	chr6:53930985-53930986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115739115	chr6:53931004-53931005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568347620	chr6:53931055-53931056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202056746	chr6:53931082-53931083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533709406	chr6:53931288-53931289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79632349	chr6:53931350-53931351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs67593265	chr6:53931351-53931352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386407108	chr6:53931353-53931354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72544216	chr6:53931354-53931355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56748711	chr6:53931355-53931356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547604823	chr6:53931369-53931370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570706310	chr6:53931383-53931384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148805828	chr6:53931444-53931445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559128400	chr6:53931543-53931544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5876353	chr6:53931636-53931637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575513942	chr6:53931682-53931683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374976946	chr6:53931692-53931693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182299557	chr6:53931758-53931759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554914954	chr6:53931773-53931774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574248078	chr6:53931782-53931783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53921600-53936600	Weak transcription	Right Ventricle	heart
2	chr6:53924000-53935200	Weak transcription	Psoas Muscle	Psoas
3	chr6:53926400-53934800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:53927200-53934800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:53927800-53930000	Weak transcription	Stomach Mucosa	stomach
6	chr6:53928000-53939000	Weak transcription	Left Ventricle	heart
7	chr6:53928600-53934600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:53928600-53939000	Weak transcription	Fetal Heart	heart
9	chr6:53928800-53934600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:53928800-53934600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:53928800-53934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:53928800-53934800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:53928800-53934800	Weak transcription	Fetal Lung	lung
14	chr6:53929000-53929600	Flanking Active TSS	Liver	Liver
15	chr6:53929600-53932000	Enhancers	Liver	Liver
16	chr6:53932000-53933400	Weak transcription	Liver	Liver
17	chr6:53933400-53934000	Enhancers	Liver	Liver
18	chr6:53934000-53934600	Weak transcription	Liver	Liver
19	chr6:53934000-53934800	Weak transcription	Stomach Mucosa	stomach
20	chr6:53934600-53934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:53934600-53934800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:53934600-53934800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:53934600-53934800	Enhancers	Liver	Liver
24	chr6:53934600-53934800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:53934600-53934800	Active TSS	Osteobl	bone
26	chr6:53934800-53935000	Active TSS	Adipose Nuclei	Adipose
27	chr6:53934800-53935000	Active TSS	Colon Smooth Muscle	Colon
28	chr6:53934800-53935000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr6:53934800-53935000	Active TSS	Ovary	ovary
30	chr6:53934800-53935000	Active TSS	HepG2	liver
31	chr6:53934800-53935000	Active TSS	NHEK	skin
32	chr6:53934800-53935000	Flanking Active TSS	NHLF	lung
33	chr6:53934800-53935200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:53934800-53935200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:53934800-53935200	Active TSS	Colonic Mucosa	Colon
36	chr6:53934800-53935200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr6:53934800-53935200	Enhancers	Esophagus	oesophagus
38	chr6:53934800-53935200	Active TSS	Fetal Kidney	kidney
39	chr6:53934800-53935200	Flanking Active TSS	Fetal Lung	lung
40	chr6:53934800-53935200	Enhancers	Pancreas	Pancrea
41	chr6:53934800-53935200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr6:53934800-53935200	Active TSS	Rectal Smooth Muscle	rectum
43	chr6:53934800-53935200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr6:53934800-53935200	Active TSS	Stomach Smooth Muscle	stomach
45	chr6:53934800-53935200	Active TSS	HUVEC	blood vessel
46	chr6:53934800-53935400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:53934800-53935400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:53934800-53935400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:53934800-53935400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:53934800-53935400	Active TSS	Aorta	Aorta

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