Variant report

Variant	nsv886746
Chromosome Location	chr6:145815949-145920894
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	chr6:145860936-145861220	GM12878	blood:	n/a	chr6:145861103-145861114
2	BCL11A	chr6:145852269-145852506	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr6:145819568-145819808	GM12878	blood:	n/a	n/a
4	BRCA1	chr6:145829420-145829620	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr6:145827312-145827925	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr6:145827227-145827593	MCF-7	breast:	n/a	chr6:145827416-145827427
7	CEBPB	chr6:145870033-145870764	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr6:145872355-145872657	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr6:145828430-145828741	MCF-7	breast:	n/a	n/a
10	CEBPB	chr6:145827338-145827527	A549	lung:	n/a	chr6:145827416-145827427
11	CEBPB	chr6:145878699-145878896	H1-hESC	embryonic stem cell:	n/a	chr6:145878807-145878818 chr6:145878790-145878801
12	CEBPB	chr6:145827271-145827548	HepG2	liver:	n/a	chr6:145827416-145827427
13	CEBPB	chr6:145831010-145831189	HepG2	liver:	n/a	chr6:145831070-145831081
14	CEBPB	chr6:145878706-145878920	A549	lung:	n/a	chr6:145878807-145878818 chr6:145878790-145878801
15	CEBPB	chr6:145816017-145816074	IMR90	lung:	n/a	n/a
16	CEBPB	chr6:145855858-145856136	HepG2	liver:	n/a	chr6:145855896-145855909
17	CEBPB	chr6:145827066-145828000	Hela-S3	cervix:	n/a	chr6:145827416-145827427
18	CEBPB	chr6:145823590-145823941	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr6:145868799-145869032	IMR90	lung:	n/a	n/a
20	CEBPB	chr6:145868712-145869350	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr6:145828356-145828798	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr6:145918644-145918844	HepG2	liver:	n/a	chr6:145918689-145918700 chr6:145918687-145918698
23	CEBPB	chr6:145865199-145865861	Hela-S3	cervix:	n/a	chr6:145865620-145865632
24	CEBPB	chr6:145860920-145861266	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr6:145917293-145917481	IMR90	lung:	n/a	chr6:145917381-145917390 chr6:145917379-145917390 chr6:145917379-145917392 chr6:145917381-145917390 chr6:145917381-145917390 chr6:145917379-145917392 chr6:145917381-145917390
26	CEBPB	chr6:145860909-145861270	IMR90	lung:	n/a	n/a
27	CEBPB	chr6:145878642-145878970	HepG2	liver:	n/a	chr6:145878807-145878818 chr6:145878790-145878801
28	CEBPB	chr6:145878649-145878943	K562	blood:	n/a	chr6:145878807-145878818 chr6:145878790-145878801
29	CHD2	chr6:145829406-145829616	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr6:145829400-145829550	GM12872	blood:	n/a	n/a
31	CTCF	chr6:145829480-145829630	AG04450	lung:	n/a	n/a
32	CTCF	chr6:145829360-145829510	GM12878	blood:	n/a	n/a
33	CTCF	chr6:145829420-145829570	GM12864	blood:	n/a	n/a
34	CTCF	chr6:145829420-145829570	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr6:145904979-145905119	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:145829420-145829570	GM12869	blood:	n/a	n/a
37	CTCF	chr6:145824307-145824383	GM10248	blood:	n/a	n/a
38	CTCF	chr6:145829440-145829590	GM12801	blood:	n/a	n/a
39	CTCF	chr6:145829488-145829553	K562	blood:	n/a	n/a
40	CTCF	chr6:145829380-145829530	HMEC	breast:	n/a	n/a
41	CTCF	chr6:145829417-145829555	NHEK	skin:	n/a	n/a
42	CTCF	chr6:145829420-145829570	GM12870	blood:	n/a	n/a
43	CTCF	chr6:145829220-145829370	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr6:145829480-145829630	HVMF	connective:	n/a	n/a
45	CTCF	chr6:145829400-145829550	GM12867	blood:	n/a	n/a
46	CTCF	chr6:145904820-145904970	HEK293	kidney:	n/a	n/a
47	CTCF	chr6:145829420-145829570	HRE	kidney:	n/a	n/a
48	CTCF	chr6:145829420-145829570	BE2_C	brain:	n/a	n/a
49	CTCF	chr6:145829401-145829618	GM12878	blood:	n/a	n/a
50	CTCF	chr6:145829460-145829610	HRPEpiC	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:145854680..145857646-chr6:145960057..145962125,2	K562	blood:
2	chr6:145817967..145818790-chr6:145955063..145955734,2	MCF-7	breast:
3	chr6:145837938..145839550-chr6:145845212..145847304,2	K562	blood:
4	chr6:145866896..145869158-chr6:145873363..145875899,2	K562	blood:
5	chr6:145837938..145839550-chr6:145845212..145847304,2	K562	blood:
6	chr6:145866896..145869158-chr6:145873363..145875899,2	K562	blood:
7	chr6:145873217..145875008-chr6:145943197..145945439,2	K562	blood:

Variant related genes	Relation type
ENSG00000217612	TF binding region

Extended variants
information (count: 3216 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3216 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367693	chr6:145815949-145815950	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562542155	chr6:145815984-145815985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs192169175	chr6:145815985-145815986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377086831	chr6:145816008-145816009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552859570	chr6:145816010-145816011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571083297	chr6:145816057-145816058	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs563827975	chr6:145816062-145816063	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs528729397	chr6:145816070-145816071	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs183010970	chr6:145816074-145816075	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371197378	chr6:145816091-145816092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568270204	chr6:145816123-145816124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs535602057	chr6:145816124-145816125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557165994	chr6:145816126-145816127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs187290011	chr6:145816133-145816134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs539429352	chr6:145816135-145816136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs558098324	chr6:145816159-145816160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573183549	chr6:145816174-145816175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs396492	chr6:145816180-145816181	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs372378	chr6:145816227-145816228	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs191860262	chr6:145816235-145816236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs78209217	chr6:145816239-145816240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs562418562	chr6:145816252-145816253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370435094	chr6:145816282-145816283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs559726743	chr6:145816302-145816303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376029777	chr6:145816318-145816319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs184700491	chr6:145816322-145816323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs145504046	chr6:145816370-145816371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs388728	chr6:145816419-145816420	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs565547073	chr6:145816445-145816446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs569380948	chr6:145816446-145816447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs370433689	chr6:145816447-145816448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs386408851	chr6:145816457-145816458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs373399982	chr6:145816458-145816459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs546886712	chr6:145816478-145816479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113318297	chr6:145816484-145816485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs568357119	chr6:145816542-145816543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs151088728	chr6:145816562-145816563	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs189493046	chr6:145816577-145816578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs530572124	chr6:145816589-145816590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs375794588	chr6:145816653-145816654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs192146611	chr6:145816663-145816664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs57862787	chr6:145816675-145816676	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542475732	chr6:145816702-145816703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs150332808	chr6:145816707-145816708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs374897445	chr6:145816708-145816709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs139923999	chr6:145816722-145816723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs202187572	chr6:145816725-145816726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs200972652	chr6:145816726-145816727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs57444619	chr6:145816730-145816731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs555681497	chr6:145816732-145816733	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145815000-145816400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:145818400-145819000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:145819000-145819600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:145819000-145820600	Enhancers	Stomach Mucosa	stomach
5	chr6:145819600-145819800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:145820600-145823200	Weak transcription	Stomach Mucosa	stomach
7	chr6:145821800-145822000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:145823200-145823800	Enhancers	Stomach Mucosa	stomach
9	chr6:145823400-145823600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:145823800-145827200	Weak transcription	Stomach Mucosa	stomach
11	chr6:145826400-145829200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:145827000-145829000	Enhancers	Hela-S3	cervix
13	chr6:145827200-145829400	Enhancers	Stomach Mucosa	stomach
14	chr6:145827400-145828200	Enhancers	Adipose Nuclei	Adipose
15	chr6:145827800-145828200	Enhancers	Placenta	Placenta
16	chr6:145827800-145828200	Enhancers	Psoas Muscle	Psoas
17	chr6:145827800-145828200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:145827800-145829000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:145827800-145829400	Enhancers	HMEC	breast
20	chr6:145828200-145828800	Weak transcription	Adipose Nuclei	Adipose
21	chr6:145828800-145829800	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr6:145829000-145829400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:145829000-145829400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:145829000-145829400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:145829000-145829800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:145829000-145837400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:145829200-145829400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:145829200-145829400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:145829200-145830400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:145841600-145842600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:145842600-145842800	Enhancers	Stomach Mucosa	stomach
32	chr6:145842800-145851000	Weak transcription	Stomach Mucosa	stomach
33	chr6:145844400-145850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:145848800-145849400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:145849400-145850800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:145849600-145849800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:145850000-145851200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr6:145850000-145851200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:145850000-145852600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr6:145850400-145850800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr6:145850400-145853200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:145850400-145854200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:145850600-145851400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:145850600-145851800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr6:145850600-145852000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:145850600-145852600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:145850800-145851000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr6:145850800-145851200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr6:145850800-145851400	Enhancers	Left Ventricle	heart
50	chr6:145850800-145851400	Enhancers	Pancreas	Pancrea

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