Variant report

Variant	nsv886025
Chromosome Location	chr6:66050797-66192399
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	chr6:66120388-66120433	HepG2	liver:	n/a	n/a
2	ATF1	chr6:66160376-66160599	K562	blood:	n/a	n/a
3	ATF1	chr6:66171007-66171493	K562	blood:	n/a	n/a
4	BACH1	chr6:66066175-66066268	H1-hESC	embryonic stem cell:	n/a	n/a
5	CCNT2	chr6:66139022-66139218	K562	blood:	n/a	n/a
6	CCNT2	chr6:66171045-66171349	K562	blood:	n/a	n/a
7	CCNT2	chr6:66100608-66100682	K562	blood:	n/a	n/a
8	CEBPB	chr6:66143961-66144277	HepG2	liver:	n/a	n/a
9	CEBPB	chr6:66064204-66064473	IMR90	lung:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
10	CEBPB	chr6:66064192-66064538	HepG2	liver:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
11	CEBPB	chr6:66156810-66157084	K562	blood:	n/a	n/a
12	CEBPB	chr6:66127902-66128153	HepG2	liver:	n/a	chr6:66128011-66128022 chr6:66128012-66128021
13	CEBPB	chr6:66064262-66064425	K562	blood:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
14	CEBPB	chr6:66064226-66064435	H1-hESC	embryonic stem cell:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
15	CEBPB	chr6:66138219-66138426	HepG2	liver:	n/a	chr6:66138267-66138278
16	CEBPB	chr6:66066493-66066779	HepG2	liver:	n/a	chr6:66066621-66066632
17	CEBPB	chr6:66064211-66064491	A549	lung:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
18	CEBPB	chr6:66120214-66120512	HepG2	liver:	n/a	n/a
19	CEBPB	chr6:66156754-66157125	HepG2	liver:	n/a	chr6:66157101-66157114
20	CEBPB	chr6:66064245-66064517	Hela-S3	cervix:	n/a	chr6:66064368-66064379 chr6:66064370-66064381 chr6:66064370-66064379
21	CEBPB	chr6:66109620-66109995	HepG2	liver:	n/a	chr6:66109790-66109801 chr6:66109810-66109821
22	CEBPD	chr6:66171023-66171458	K562	blood:	n/a	n/a
23	CEBPD	chr6:66076790-66077115	K562	blood:	n/a	n/a
24	CTCF	chr6:66157678-66157758	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr6:66157500-66157650	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:66157717-66157767	LNCaP	prostate:	n/a	n/a
27	CTCF	chr6:66128422-66128491	Lung_OC	lung:	n/a	n/a
28	CTCF	chr6:66117250-66117306	GM20000	blood:	n/a	n/a
29	CTCF	chr6:66119174-66119372	GM12878	blood:	n/a	n/a
30	CTCF	chr6:66157685-66157759	LNCaP	prostate:	n/a	n/a
31	CTCF	chr6:66157720-66157870	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:66157600-66157750	BE2_C	brain:	n/a	n/a
33	CTCF	chr6:66157560-66157710	BE2_C	brain:	n/a	n/a
34	CTCF	chr6:66157626-66157803	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:66157563-66157836	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:66157771-66157802	LNCaP	prostate:	n/a	n/a
37	CTCF	chr6:66060640-66060910	HepG2	liver:	n/a	n/a
38	CTCF	chr6:66157640-66157790	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr6:66157644-66157761	MCF-7	breast:	n/a	n/a
40	CTCF	chr6:66157620-66157770	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr6:66157620-66157770	Caco-2	colon:	n/a	n/a
42	CTCF	chr6:66073240-66073390	AG09319	gingival:	n/a	n/a
43	CUX1	chr6:66170915-66171409	K562	blood:	n/a	n/a
44	CUX1	chr6:66138046-66138073	GM12878	blood:	n/a	n/a
45	E2F4	chr6:66076511-66076861	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr6:66109632-66109795	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr6:66136356-66136509	MCF10A-Er-Src	breast:	n/a	n/a
48	EP300	chr6:66151712-66151970	K562	blood:	n/a	chr6:66151772-66151779
49	EP300	chr6:66104711-66104747	GM12878	blood:	n/a	n/a
50	EP300	chr6:66171008-66171473	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:66158867..66160946-chr6:66172650..66174788,2	K562	blood:
2	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
3	chr6:66051771..66054306-chr6:66063446..66065850,2	K562	blood:
4	chr6:66060579..66062154-chr6:66063684..66065572,2	MCF-7	breast:
5	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
6	chr6:66097248..66097748-chr7:48217360..48217884,2	MCF-7	breast:
7	chr6:66158867..66160946-chr6:66172650..66174788,2	K562	blood:
8	chr6:66051771..66054306-chr6:66063446..66065850,2	K562	blood:
9	chr6:66060579..66062154-chr6:66063684..66065572,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF3-3	chr6:66191208-66191429	ENSG00000230672.1
2	lnc-PHF3-3	chr6:66191784-66191981	ENSG00000230672.1

Variant related genes	Relation type
ENSG00000265187	TF binding region

Extended variants
information (count: 1026 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1995442	chr6:66061452-66061453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9345608	chr6:66061475-66061476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567031117	chr6:66061476-66061477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534650324	chr6:66061502-66061503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554592086	chr6:66061581-66061582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375150795	chr6:66061590-66061591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567142487	chr6:66061593-66061594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577350737	chr6:66061605-66061606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9445514	chr6:66061618-66061619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs151263616	chr6:66061634-66061635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192313613	chr6:66061656-66061657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552550643	chr6:66061707-66061708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371913935	chr6:66061733-66061734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571167612	chr6:66061738-66061739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559929881	chr6:66061755-66061756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112414800	chr6:66061782-66061783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542963494	chr6:66061788-66061789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545661450	chr6:66061822-66061823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9453261	chr6:66061852-66061853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528361043	chr6:66061868-66061869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541681543	chr6:66061871-66061872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139314102	chr6:66061881-66061882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375252360	chr6:66061918-66061919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576663203	chr6:66061922-66061923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182409043	chr6:66061936-66061937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538561709	chr6:66061958-66061959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551068798	chr6:66061961-66061962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564408936	chr6:66061971-66061972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533601475	chr6:66062013-66062014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1342609	chr6:66062019-66062020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375914311	chr6:66062036-66062037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567208616	chr6:66062050-66062051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1995441	chr6:66062084-66062085	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549649797	chr6:66062087-66062088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377019392	chr6:66062106-66062107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568080698	chr6:66062133-66062134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536628796	chr6:66062165-66062166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77815200	chr6:66062177-66062178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186767226	chr6:66062179-66062180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539660408	chr6:66062185-66062186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553874192	chr6:66076013-66076014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573664763	chr6:66076032-66076033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373335199	chr6:66076047-66076048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181198297	chr6:66076049-66076050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562687708	chr6:66076067-66076068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9453280	chr6:66076077-66076078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76275816	chr6:66076084-66076085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147454163	chr6:66076106-66076107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527723117	chr6:66076140-66076141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9445530	chr6:66076141-66076142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Retinitis pigmentosa	21519034	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66061400-66062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:66061600-66061800	Enhancers	Fetal Lung	lung
3	chr6:66076000-66077200	Enhancers	Fetal Stomach	stomach
4	chr6:66095800-66097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:66096600-66097000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:66099200-66099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:66108200-66109200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:66109200-66110000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:66110000-66110200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:66120200-66120600	Enhancers	HepG2	liver
11	chr6:66124200-66124400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:66124400-66125000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:66125000-66127800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:66125200-66127800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:66126000-66126200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:66126000-66127000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:66126200-66133200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:66126400-66127400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:66133200-66135000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:66155800-66156400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:66156400-66158600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:66157000-66160800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:66157400-66158200	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:66157400-66160600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:66157600-66158200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr6:66157600-66158400	Enhancers	Brain Substantia Nigra	brain
27	chr6:66157600-66160600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:66157600-66160600	Enhancers	Brain Hippocampus Middle	brain
29	chr6:66157800-66160400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:66157800-66160600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:66158000-66160800	Enhancers	Fetal Brain Male	brain
32	chr6:66158200-66158400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr6:66158200-66160400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:66158400-66158600	Weak transcription	Brain Substantia Nigra	brain
35	chr6:66158600-66159000	Active TSS	Brain Substantia Nigra	brain
36	chr6:66158600-66160000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:66158800-66159200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:66158800-66159200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:66158800-66159200	Enhancers	Brain Germinal Matrix	brain
40	chr6:66159200-66160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:66159200-66160200	Weak transcription	Brain Germinal Matrix	brain
42	chr6:66159600-66159800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr6:66160200-66160400	Enhancers	Brain Germinal Matrix	brain
44	chr6:66160200-66160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:66160200-66160800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:66160400-66160800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr6:66160600-66160800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr6:66170400-66171400	Enhancers	K562	blood
49	chr6:66171000-66171400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:66171000-66171600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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