Variant report

Variant	nsv966616
Chromosome Location	chr6:29479346-29495253
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	ATF1	chr6:29484009-29484209	K562	blood:	n/a	n/a
2	CBX3	chr6:29483750-29484388	HCT-116	colon:	n/a	n/a
3	CBX3	chr6:29483797-29484274	HCT-116	colon:	n/a	n/a
4	CEBPB	chr6:29492820-29493375	K562	blood:	n/a	chr6:29493216-29493227
5	CEBPB	chr6:29493070-29493392	IMR90	lung:	n/a	chr6:29493216-29493227
6	CEBPB	chr6:29493070-29493404	HepG2	liver:	n/a	chr6:29493216-29493227
7	CEBPB	chr6:29492851-29493397	H1-hESC	embryonic stem cell:	n/a	chr6:29493216-29493227
8	CEBPB	chr6:29493083-29493346	A549	lung:	n/a	chr6:29493216-29493227
9	CEBPB	chr6:29490658-29490690	K562	blood:	n/a	n/a
10	CTCF	chr6:29485071-29485350	K562	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
11	CTCF	chr6:29485080-29485230	HepG2	liver:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
12	CTCF	chr6:29485148-29485310	NHEK	skin:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
13	CTCF	chr6:29485192-29485279	H1-hESC	embryonic stem cell:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
14	CTCF	chr6:29485176-29485274	GM19239	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
15	CTCF	chr6:29485140-29485290	HEK293	kidney:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
16	CTCF	chr6:29485120-29485270	GM12873	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
17	CTCF	chr6:29485134-29485265	K562	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
18	CTCF	chr6:29485223-29485253	MCF-7	breast:	n/a	n/a
19	CTCF	chr6:29485144-29485266	GM12878	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
20	CTCF	chr6:29487088-29487109	GM12878	blood:	n/a	n/a
21	CTCF	chr6:29484020-29484170	HMEC	breast:	n/a	n/a
22	CTCF	chr6:29485300-29485450	GM12868	blood:	n/a	n/a
23	CTCF	chr6:29485167-29485306	GM19238	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
24	CTCF	chr6:29485081-29485288	H1-hESC	embryonic stem cell:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
25	CTCF	chr6:29486988-29487161	K562	blood:	n/a	n/a
26	CTCF	chr6:29485203-29485301	GM12891	blood:	n/a	chr6:29485207-29485216
27	CTCF	chr6:29487000-29487150	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr6:29485183-29485274	GM12878	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
29	CTCF	chr6:29485940-29486090	WERI-Rb-1	eye:	n/a	chr6:29486001-29486009 chr6:29486042-29486052
30	CTCF	chr6:29485116-29485251	HepG2	liver:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
31	CTCF	chr6:29485140-29485290	WERI-Rb-1	eye:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
32	CTCF	chr6:29485080-29485230	GM12872	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
33	CTCF	chr6:29485178-29485273	GM19240	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
34	CTCF	chr6:29485168-29485264	GM12892	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
35	E2F4	chr6:29483915-29484331	MCF10A-Er-Src	breast:	n/a	n/a
36	EP300	chr6:29483931-29484237	SK-N-SH_RA	brain:	n/a	n/a
37	FOS	chr6:29485042-29485056	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:29483755-29484244	MCF10A-Er-Src	breast:	n/a	chr6:29484026-29484037
39	FOS	chr6:29483847-29484515	MCF10A-Er-Src	breast:	n/a	chr6:29484026-29484037
40	FOS	chr6:29483820-29484332	MCF10A-Er-Src	breast:	n/a	chr6:29484026-29484037
41	FOS	chr6:29483884-29484233	HUVEC	blood vessel:	n/a	chr6:29484026-29484037
42	FOS	chr6:29483823-29484316	MCF10A-Er-Src	breast:	n/a	chr6:29484026-29484037
43	FOSL1	chr6:29483758-29484302	HCT-116	colon:	n/a	n/a
44	FOSL1	chr6:29483759-29484400	HCT-116	colon:	n/a	n/a
45	FOSL2	chr6:29483792-29484187	MCF-7	breast:	n/a	n/a
46	FOSL2	chr6:29483779-29484314	SK-N-SH	brain:	n/a	n/a
47	JUND	chr6:29483884-29484235	SK-N-SH	brain:	n/a	n/a
48	JUND	chr6:29483809-29484349	HCT-116	colon:	n/a	n/a
49	JUND	chr6:29483739-29484315	HCT-116	colon:	n/a	n/a
50	JUND	chr6:29483820-29484362	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:29481318..29483910-chr6:29486622..29489549,2	K562	blood:
2	chr6:29483683..29485672-chr6:29497592..29500057,2	K562	blood:
3	chr6:29460358..29463035-chr6:29483811..29485363,2	K562	blood:
4	chr6:29484816..29486671-chr6:29489047..29491131,2	K562	blood:
5	chr6:29490586..29492205-chr6:29493882..29496471,2	K562	blood:
6	chr6:29494254..29496248-chr6:29505741..29508107,2	K562	blood:
7	chr6:29484816..29486671-chr6:29489047..29491131,2	K562	blood:
8	chr6:29477552..29479306-chr6:29484098..29486256,2	K562	blood:
9	chr6:29490586..29492205-chr6:29493882..29496471,2	K562	blood:
10	chr6:29481318..29483910-chr6:29486622..29489549,2	K562	blood:

Variant related genes	Relation type
LINC01015	TF binding region
ENSG00000229281	chromatin interactions

Extended variants
information (count: 579 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:579 , 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	rs139789881	chr6:29479448-29479449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116158758	chr6:29479466-29479467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143180688	chr6:29479474-29479475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188401004	chr6:29479515-29479516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180731174	chr6:29479578-29479579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187300412	chr6:29479586-29479587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376144012	chr6:29479608-29479609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566133266	chr6:29479609-29479610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190443926	chr6:29479617-29479618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539171958	chr6:29479620-29479621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552087080	chr6:29479677-29479678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372544288	chr6:29479698-29479699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571983876	chr6:29479718-29479719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549026998	chr6:29479759-29479760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542234224	chr6:29479791-29479792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537413094	chr6:29479793-29479794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557393949	chr6:29479813-29479814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553978783	chr6:29479824-29479825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151161440	chr6:29479866-29479867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114571599	chr6:29479874-29479875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566125647	chr6:29479898-29479899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181751293	chr6:29479914-29479915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536462588	chr6:29480018-29480019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544841317	chr6:29480088-29480089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117546458	chr6:29480144-29480145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555173405	chr6:29480153-29480154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371769251	chr6:29480162-29480163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543759285	chr6:29480189-29480190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568527149	chr6:29480198-29480199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544118810	chr6:29480229-29480230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11756382	chr6:29480257-29480258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144995303	chr6:29480280-29480281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560226780	chr6:29480290-29480291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528663049	chr6:29480341-29480342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374691018	chr6:29480417-29480418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12527641	chr6:29480425-29480426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191557783	chr6:29480467-29480468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540980235	chr6:29480529-29480530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182624751	chr6:29480555-29480556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3130849	chr6:29480556-29480557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs565990746	chr6:29480569-29480570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142216043	chr6:29480607-29480608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116021555	chr6:29480613-29480614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541684768	chr6:29480649-29480650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111819005	chr6:29480734-29480735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185414394	chr6:29480762-29480763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201996131	chr6:29480765-29480766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138945698	chr6:29480788-29480789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79210184	chr6:29480822-29480823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530757703	chr6:29480829-29480830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29468600-29496200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:29476800-29481600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:29478600-29483800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:29480600-29481000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr6:29480800-29481200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:29481000-29481600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:29481600-29482600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:29481600-29483800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:29482600-29483600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:29483400-29484600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:29483400-29484800	Enhancers	HMEC	breast
12	chr6:29483600-29484400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:29483600-29484800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:29483600-29484800	Enhancers	NHEK	skin
15	chr6:29483800-29484200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:29483800-29484200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:29483800-29484600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:29483800-29484600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:29483800-29484600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:29484000-29484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:29484000-29484400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:29484000-29484400	Enhancers	Hela-S3	cervix
23	chr6:29484000-29484600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:29484400-29488200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:29484600-29488000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:29487000-29487200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
27	chr6:29488000-29488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:29488200-29488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:29490200-29490400	Enhancers	Liver	Liver
30	chr6:29490400-29491400	Weak transcription	Liver	Liver
31	chr6:29491200-29491800	Enhancers	Pancreas	Pancrea
32	chr6:29491400-29493200	Enhancers	Liver	Liver
33	chr6:29491800-29492200	Weak transcription	Pancreas	Pancrea
34	chr6:29492000-29493000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:29492000-29493200	Enhancers	Primary hematopoietic stem cells	blood
36	chr6:29492200-29492400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr6:29492200-29492800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:29492200-29492800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:29492200-29493000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:29492200-29493000	Enhancers	Pancreas	Pancrea
41	chr6:29492400-29492600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:29492400-29492600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:29492400-29493600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:29492400-29493600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:29492400-29493600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:29492400-29493800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr6:29492600-29492800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:29492600-29492800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr6:29492800-29493200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:29492800-29493200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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