Variant report

Variant	nsv981194
Chromosome Location	chr6:150276068-150281801
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	BATF	chr6:150280757-150280957	GM12878	blood:	n/a	chr6:150280887-150280898 chr6:150280888-150280898
2	BHLHE40	chr6:150280710-150280916	GM12878	blood:	n/a	chr6:150280798-150280807
3	CTCF	chr6:150281079-150281326	K562	blood:	n/a	n/a
4	CTCF	chr6:150281122-150281285	K562	blood:	n/a	n/a
5	CTCF	chr6:150281183-150281280	GM20000	blood:	n/a	n/a
6	CUX1	chr6:150280800-150280909	GM12878	blood:	n/a	n/a
7	E2F4	chr6:150281800-150281813	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F6	chr6:150276225-150276346	K562	blood:	n/a	n/a
9	FOS	chr6:150279281-150279615	HUVEC	blood vessel:	n/a	n/a
10	FOS	chr6:150280884-150280920	MCF10A-Er-Src	breast:	n/a	chr6:150280891-150280900 chr6:150280890-150280899 chr6:150280892-150280899 chr6:150280891-150280899
11	FOS	chr6:150280865-150280938	MCF10A-Er-Src	breast:	n/a	chr6:150280891-150280900 chr6:150280890-150280899 chr6:150280892-150280899 chr6:150280891-150280899
12	FOS	chr6:150280814-150280939	MCF10A-Er-Src	breast:	n/a	chr6:150280891-150280900 chr6:150280890-150280899 chr6:150280892-150280899 chr6:150280891-150280899
13	GATA1	chr6:150277206-150277813	K562	blood:	n/a	chr6:150277552-150277561 chr6:150277532-150277541 chr6:150277554-150277561
14	GATA2	chr6:150279321-150279660	HUVEC	blood vessel:	n/a	chr6:150279450-150279460
15	GATA2	chr6:150277481-150277669	SH-SY5Y	brain:	n/a	chr6:150277552-150277561 chr6:150277532-150277541 chr6:150277554-150277561
16	GATA2	chr6:150277445-150277723	K562	blood:	n/a	chr6:150277552-150277561 chr6:150277532-150277541 chr6:150277554-150277561
17	JUND	chr6:150280729-150281014	HepG2	liver:	n/a	chr6:150280889-150280900 chr6:150280891-150280900 chr6:150280890-150280899 chr6:150280892-150280899 chr6:150280891-150280899
18	MAX	chr6:150276196-150276365	K562	blood:	n/a	chr6:150276261-150276268 chr6:150276260-150276269
19	MYC	chr6:150280197-150280218	GM12878	blood:	n/a	n/a
20	MYC	chr6:150277502-150277566	K562	blood:	n/a	n/a
21	POLR2A	chr6:150278334-150278569	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr6:150281792-150281800	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:150278310-150278562	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr6:150277816-150277886	GM12878	blood:	n/a	n/a
25	RCOR1	chr6:150277498-150277571	K562	blood:	n/a	n/a
26	TEAD4	chr6:150277356-150277693	K562	blood:	n/a	n/a
27	ZNF263	chr6:150277151-150277478	HEK293-T-REx	kidney:	n/a	chr6:150277298-150277307 chr6:150277362-150277371

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:150278437-150278487	H1-hESC	embryonic stem cell:	embryo
2	chr6:150278437-150278487	NHDF-neo	bronchial:	n/a
3	chr6:150278437-150278487	U87	brain:	n/a
4	chr6:150276311-150276361	SAEC	small airway:	n/a
5	chr6:150278437-150278487	NH-A	brain:	n/a
6	chr6:150276311-150276361	HAEpiC	amniotic membrane:	n/a
7	chr6:150278437-150278487	BJ	skin:	n/a
8	chr6:150278437-150278487	SKMC	muscle:	n/a
9	chr6:150278437-150278487	HL-60	blood:	n/a
10	chr6:150278437-150278487	MCF-7	breast:	n/a
11	chr6:150278437-150278487	GM12892	blood:	n/a
12	chr6:150276311-150276361	NHBE	bronchial:	n/a
13	chr6:150276311-150276361	Jurkat	blood:	n/a
14	chr6:150276311-150276361	NB4	blood:	n/a
15	chr6:150276311-150276361	LNCaP	prostate:	n/a
16	chr6:150276311-150276361	HCM	heart:	n/a
17	chr6:150278437-150278487	Hepatocyte	liver:	n/a
18	chr6:150278437-150278487	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:150276311-150276361	HCT-116	colon:	n/a
20	chr6:150276311-150276361	AG04449	skin:	fetal
21	chr6:150276311-150276361	Hepatocyte	liver:	n/a
22	chr6:150278437-150278487	ProgFib	skin:	n/a
23	chr6:150276311-150276361	HIPEpiC	eye:	n/a
24	chr6:150278437-150278487	SK-N-SH_RA	brain:	n/a
25	chr6:150276311-150276361	GM12891	blood:	n/a
26	chr6:150276311-150276361	ovcar-3	ovarian:	n/a
27	chr6:150276311-150276361	AG09319	gingival:	n/a
28	chr6:150276311-150276361	HRCEpiC	kidney:	n/a
29	chr6:150278437-150278487	Hela-S3	cervix:	n/a
30	chr6:150278437-150278487	AG10803	skin:	n/a
31	chr6:150276311-150276361	HMEC	breast:	n/a
32	chr6:150276311-150276361	AG10803	skin:	n/a
33	chr6:150278437-150278487	LNCaP	prostate:	n/a
34	chr6:150278437-150278487	AG04450	lung:	fetal
35	chr6:150276311-150276361	HCF	heart:	n/a
36	chr6:150278437-150278487	IMR90	lung:	fetal
37	chr6:150278437-150278487	MCF10A-Er-Src	breast:	n/a
38	chr6:150278437-150278487	ovcar-3	ovarian:	n/a
39	chr6:150278437-150278487	SK-N-SH	brain:	n/a
40	chr6:150276311-150276361	CMK	blood:	n/a
41	chr6:150278437-150278487	A549	lung:	n/a
42	chr6:150276311-150276361	A549	lung:	n/a
43	chr6:150278437-150278487	HCM	heart:	n/a
44	chr6:150276311-150276361	Caco-2	colon:	n/a
45	chr6:150278437-150278487	NB4	blood:	n/a
46	chr6:150276311-150276361	BJ	skin:	n/a
47	chr6:150278437-150278487	GM12878	blood:	n/a
48	chr6:150278437-150278487	BE2_C	brain:	n/a
49	chr6:150276311-150276361	BE2_C	brain:	n/a
50	chr6:150278437-150278487	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:150281675..150283348-chr6:150283536..150287148,3	MCF-7	breast:
2	chr6:150280454..150282016-chr6:150284184..150286237,2	K562	blood:
3	chr6:150276072..150278660-chr6:150282863..150284944,2	K562	blood:
4	chr6:149887361..149889007-chr6:150280214..150281779,2	K562	blood:
5	chr6:150276089..150279846-chr6:150282631..150286651,4	MCF-7	breast:

Variant related genes	Relation type
ULBP1	TF binding region
ULBP1	CpG island
ENSG00000055211	chromatin interactions
ENSG00000111981	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377294274	chr6:150276077-150276078	Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575399155	chr6:150276083-150276084	Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543891612	chr6:150276088-150276089	Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563477187	chr6:150276092-150276093	Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532351718	chr6:150276094-150276095	Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552167551	chr6:150276102-150276103	Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559576058	chr6:150276118-150276119	Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528783086	chr6:150276157-150276158	Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548645342	chr6:150276159-150276160	Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9479262	chr6:150276210-150276211	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6926109	chr6:150276233-150276234	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369125702	chr6:150276277-150276278	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs397707483	chr6:150276298-150276299	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397832412	chr6:150276304-150276305	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373537717	chr6:150276314-150276315	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550673004	chr6:150276322-150276323	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs470779	chr6:150276329-150276330	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539407220	chr6:150276340-150276341	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553015745	chr6:150276395-150276396	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372718158	chr6:150276426-150276427	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186704401	chr6:150276493-150276494	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148393389	chr6:150276494-150276495	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555417338	chr6:150276527-150276528	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564344488	chr6:150276575-150276576	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577778425	chr6:150276587-150276588	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544106709	chr6:150276602-150276603	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563415712	chr6:150276605-150276606	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576931737	chr6:150276628-150276629	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540346798	chr6:150276632-150276633	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200675604	chr6:150276650-150276651	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528513682	chr6:150276651-150276652	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371130947	chr6:150276669-150276670	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542492552	chr6:150276721-150276722	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562272200	chr6:150276760-150276761	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531105007	chr6:150276770-150276771	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189944276	chr6:150276772-150276773	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181745057	chr6:150276786-150276787	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570522359	chr6:150276798-150276799	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186097697	chr6:150276804-150276805	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190861751	chr6:150276827-150276828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369326159	chr6:150276852-150276853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566457007	chr6:150276859-150276860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535141696	chr6:150276937-150276938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555615865	chr6:150276938-150276939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs76722863	chr6:150276939-150276940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183414256	chr6:150276983-150276984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557531156	chr6:150277037-150277038	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147708638	chr6:150277042-150277043	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs78104861	chr6:150277051-150277052	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553084505	chr6:150277054-150277055	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150274800-150276200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr6:150274800-150276200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:150274800-150276600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr6:150274800-150276600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr6:150275000-150276400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:150275200-150276400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr6:150275600-150276200	Bivalent/Poised TSS	HepG2	liver
8	chr6:150275600-150276600	Enhancers	Right Ventricle	heart
9	chr6:150275800-150276400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr6:150275800-150276400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:150276200-150276400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:150276400-150276600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr6:150276400-150276600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr6:150276400-150276600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:150276400-150276600	Bivalent Enhancer	Colon Smooth Muscle	Colon
16	chr6:150276400-150276600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
17	chr6:150276400-150276800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:150277000-150277200	Enhancers	Spleen	Spleen
19	chr6:150277200-150277600	Bivalent Enhancer	K562	blood
20	chr6:150278000-150278200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:150279000-150280200	Enhancers	HUVEC	blood vessel
22	chr6:150280200-150280800	Bivalent Enhancer	HUVEC	blood vessel
23	chr6:150281600-150281800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:150281600-150282000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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