Variant report

Variant	nsv981317
Chromosome Location	chr6:143058282-143069615
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	CEBPB	chr6:143058458-143059074	HCT-116	colon:	n/a	n/a
2	CEBPB	chr6:143063528-143063763	A549	lung:	n/a	chr6:143063671-143063682
3	CEBPB	chr6:143063533-143063771	H1-hESC	embryonic stem cell:	n/a	chr6:143063671-143063682
4	CEBPB	chr6:143065976-143066372	IMR90	lung:	n/a	n/a
5	CEBPB	chr6:143063492-143063849	HepG2	liver:	n/a	chr6:143063671-143063682
6	CEBPB	chr6:143063533-143063754	Hela-S3	cervix:	n/a	chr6:143063671-143063682
7	CEBPB	chr6:143063498-143063853	K562	blood:	n/a	chr6:143063671-143063682
8	CEBPB	chr6:143067080-143067381	IMR90	lung:	n/a	chr6:143067112-143067125
9	CEBPB	chr6:143058381-143059071	HCT-116	colon:	n/a	n/a
10	CEBPB	chr6:143067230-143067355	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr6:143067092-143067384	HepG2	liver:	n/a	chr6:143067112-143067125
12	CEBPB	chr6:143058638-143058865	HepG2	liver:	n/a	n/a
13	CEBPB	chr6:143063493-143063846	IMR90	lung:	n/a	chr6:143063671-143063682
14	CEBPB	chr6:143058545-143058897	IMR90	lung:	n/a	n/a
15	CEBPB	chr6:143058539-143059036	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr6:143067840-143067990	HAc	cerebellar:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
17	CTCF	chr6:143067744-143067982	A549	lung:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
18	CTCF	chr6:143067740-143067890	BJ	skin:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
19	CTCF	chr6:143067680-143067830	HFF-Myc	foreskin:	n/a	n/a
20	CTCF	chr6:143067820-143067970	RPTEC	kidney:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
21	CTCF	chr6:143067780-143067930	HL-60	blood:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
22	CTCF	chr6:143067552-143067566	GM19238	blood:	n/a	n/a
23	CTCF	chr6:143067659-143067983	Spleen_OC	spleen:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
24	CTCF	chr6:143067780-143067930	HCT-116	colon:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
25	CTCF	chr6:143067760-143067910	GM12873	blood:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
26	CTCF	chr6:143067790-143067898	Fibrobl	skin:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
27	CTCF	chr6:143067360-143067510	HEK293	kidney:	n/a	n/a
28	CTCF	chr6:143067600-143068041	MCF-7	breast:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
29	CTCF	chr6:143067820-143067970	GM12864	blood:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
30	CTCF	chr6:143067800-143067950	HepG2	liver:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
31	CTCF	chr6:143067820-143067970	SAEC	small airway:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
32	CTCF	chr6:143067760-143067910	Hela-S3	cervix:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
33	CTCF	chr6:143067753-143067936	Hela-S3	cervix:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
34	CTCF	chr6:143067780-143067930	HepG2	liver:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
35	CTCF	chr6:143067680-143067830	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:143067760-143067910	GM12868	blood:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
37	CTCF	chr6:143068180-143068330	GM12872	blood:	n/a	n/a
38	CTCF	chr6:143067780-143067930	GM12872	blood:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
39	CTCF	chr6:143067740-143067890	GM12870	blood:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
40	CTCF	chr6:143067740-143067890	AoAF	blood vessel:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
41	CTCF	chr6:143067720-143067870	GM12870	blood:	n/a	chr6:143067849-143067865 chr6:143067848-143067866
42	CTCF	chr6:143067650-143068106	HepG2	liver:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
43	CTCF	chr6:143067800-143067950	HUVEC	blood vessel:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
44	CTCF	chr6:143067500-143067650	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr6:143067726-143067972	MCF-7	breast:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
46	CTCF	chr6:143067780-143067930	GM12864	blood:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
47	CTCF	chr6:143067722-143068058	H1-hESC	embryonic stem cell:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
48	CTCF	chr6:143067735-143067926	GM12891	blood:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
49	CTCF	chr6:143067800-143067950	HPF	lung:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871
50	CTCF	chr6:143067780-143067930	NB4	blood:	n/a	chr6:143067849-143067865 chr6:143067848-143067866 chr6:143067850-143067871

No.	Distal block	Cell Line	Cell type
1	chr6:143066763..143069486-chr6:143082938..143084676,2	K562	blood:
2	chr6:143063489..143065180-chr6:143065285..143068103,2	MCF-7	breast:
3	chr6:143060270..143062799-chr6:143067606..143069514,2	MCF-7	breast:
4	chr6:143060270..143062799-chr6:143067606..143069514,2	MCF-7	breast:
5	chr6:143063489..143065180-chr6:143065285..143068103,2	MCF-7	breast:
6	chr6:143067791..143068314-chr6:143658432..143658951,2	K562	blood:
7	chr6:143067390..143068087-chr6:143348024..143348636,2	MCF-7	breast:
8	chr6:143068612..143070141-chr6:143265805..143267834,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233138	TF binding region
ENSG00000010818	chromatin interactions

Extended variants
information (count: 452 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17071973	chr6:143058357-143058358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539312936	chr6:143058405-143058406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553809255	chr6:143058406-143058407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538289	chr6:143058408-143058409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186183521	chr6:143058440-143058441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561085222	chr6:143058501-143058502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6907665	chr6:143058539-143058540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374032338	chr6:143058594-143058595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575381098	chr6:143058595-143058596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77530837	chr6:143058641-143058642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532294080	chr6:143058649-143058650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370331240	chr6:143058672-143058673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190338617	chr6:143058683-143058684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6570526	chr6:143058692-143058693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527718453	chr6:143058707-143058708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180746416	chr6:143058741-143058742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544372166	chr6:143058743-143058744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567783484	chr6:143058761-143058762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375520572	chr6:143058809-143058810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546618967	chr6:143058823-143058824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185261903	chr6:143058827-143058828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560100827	chr6:143058831-143058832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141340519	chr6:143058832-143058833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571824972	chr6:143058848-143058849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143406672	chr6:143058851-143058852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73582443	chr6:143058861-143058862	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540799228	chr6:143058869-143058870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566374928	chr6:143058903-143058904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189972419	chr6:143058916-143058917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561060256	chr6:143058974-143058975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560889060	chr6:143058980-143058981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554251047	chr6:143058991-143058992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576102684	chr6:143059054-143059055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543123365	chr6:143059126-143059127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148369067	chr6:143059155-143059156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183359198	chr6:143059157-143059158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540815587	chr6:143059181-143059182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559267540	chr6:143059185-143059186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13212873	chr6:143059208-143059209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113712376	chr6:143059218-143059219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561099892	chr6:143059248-143059249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150390928	chr6:143059253-143059254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549766443	chr6:143059258-143059259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371570429	chr6:143059259-143059260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549968864	chr6:143059268-143059269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570027430	chr6:143059307-143059308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376684283	chr6:143059314-143059315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138295524	chr6:143059332-143059333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552818510	chr6:143059334-143059335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6933456	chr6:143059354-143059355	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
Primary central nervous system lymphoma	21088137	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
Breast cancer	21364760	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

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143049800-143073200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:143050000-143061600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:143050600-143058600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:143050800-143058600	Weak transcription	NHDF-Ad	bronchial
5	chr6:143054200-143072800	Weak transcription	Primary T cells from cord blood	blood
6	chr6:143056800-143059000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:143057000-143059000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:143057000-143059000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:143057200-143058800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:143057400-143058400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:143057400-143058600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:143057400-143058800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:143057400-143058800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:143057400-143058800	Weak transcription	Esophagus	oesophagus
15	chr6:143058200-143059400	Enhancers	NHEK	skin
16	chr6:143058400-143059400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:143058600-143059400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:143058600-143059400	Enhancers	NHDF-Ad	bronchial
19	chr6:143058600-143059600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:143058600-143059600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:143058600-143059800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:143058800-143059000	Enhancers	Adipose Nuclei	Adipose
23	chr6:143058800-143059000	Enhancers	Esophagus	oesophagus
24	chr6:143058800-143059200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr6:143058800-143059200	Enhancers	NHLF	lung
26	chr6:143058800-143059400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:143058800-143059400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:143058800-143059600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:143059000-143059400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:143059000-143059400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:143059000-143059400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:143059000-143059400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:143059000-143059400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:143059000-143059800	Weak transcription	Adipose Nuclei	Adipose
35	chr6:143059200-143059600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:143059200-143059600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr6:143059400-143061400	Weak transcription	NHEK	skin
38	chr6:143059400-143061800	Weak transcription	NHDF-Ad	bronchial
39	chr6:143059400-143072800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:143059400-143080600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:143059600-143074200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:143059800-143072400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:143061400-143062200	Enhancers	NHEK	skin
44	chr6:143061400-143062600	Enhancers	HSMM	muscle
45	chr6:143061600-143062400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:143061800-143062400	Enhancers	NHDF-Ad	bronchial
47	chr6:143062200-143074200	Weak transcription	NHEK	skin
48	chr6:143062400-143073600	Weak transcription	NHDF-Ad	bronchial
49	chr6:143062400-143074200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:143062600-143074200	Weak transcription	HSMM	muscle

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