Variant report

Variant	nsv883529
Chromosome Location	chr6:29464365-29494897
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	ATF1	chr6:29465238-29465245	K562	blood:	n/a	n/a
3	BHLHE40	chr6:29477112-29477348	GM12878	blood:	n/a	n/a
4	BHLHE40	chr6:29478030-29478400	K562	blood:	n/a	n/a
5	BHLHE40	chr6:29478160-29478319	HepG2	liver:	n/a	n/a
6	BHLHE40	chr6:29467541-29467772	K562	blood:	n/a	n/a
7	BRCA1	chr6:29476984-29477087	GM12878	blood:	n/a	n/a
8	CBX3	chr6:29483797-29484274	HCT-116	colon:	n/a	n/a
9	CBX3	chr6:29483750-29484388	HCT-116	colon:	n/a	n/a
10	CEBPB	chr6:29470090-29470222	HepG2	liver:	n/a	n/a
11	CEBPB	chr6:29492851-29493397	H1-hESC	embryonic stem cell:	n/a	chr6:29493216-29493227
12	CEBPB	chr6:29493070-29493392	IMR90	lung:	n/a	chr6:29493216-29493227
13	CEBPB	chr6:29490658-29490690	K562	blood:	n/a	n/a
14	CEBPB	chr6:29493070-29493404	HepG2	liver:	n/a	chr6:29493216-29493227
15	CEBPB	chr6:29468890-29469252	MCF-7	breast:	n/a	chr6:29469074-29469087 chr6:29469076-29469085 chr6:29469074-29469085 chr6:29469075-29469086
16	CEBPB	chr6:29493083-29493346	A549	lung:	n/a	chr6:29493216-29493227
17	CEBPB	chr6:29468924-29469249	K562	blood:	n/a	chr6:29469074-29469087 chr6:29469076-29469085 chr6:29469074-29469085 chr6:29469075-29469086
18	CEBPB	chr6:29492820-29493375	K562	blood:	n/a	chr6:29493216-29493227
19	CEBPB	chr6:29468925-29469256	IMR90	lung:	n/a	chr6:29469074-29469087 chr6:29469076-29469085 chr6:29469074-29469085 chr6:29469075-29469086
20	CEBPB	chr6:29468894-29469267	HepG2	liver:	n/a	chr6:29469074-29469087 chr6:29469076-29469085 chr6:29469074-29469085 chr6:29469075-29469086
21	CTCF	chr6:29485223-29485253	MCF-7	breast:	n/a	n/a
22	CTCF	chr6:29485167-29485306	GM19238	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
23	CTCF	chr6:29478158-29478250	LNCaP	prostate:	n/a	n/a
24	CTCF	chr6:29478082-29478279	HepG2	liver:	n/a	n/a
25	CTCF	chr6:29478120-29478270	NB4	blood:	n/a	n/a
26	CTCF	chr6:29478220-29478370	BE2_C	brain:	n/a	n/a
27	CTCF	chr6:29485176-29485274	GM19239	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
28	CTCF	chr6:29478147-29478246	NHEK	skin:	n/a	n/a
29	CTCF	chr6:29485300-29485450	GM12868	blood:	n/a	n/a
30	CTCF	chr6:29478110-29478286	K562	blood:	n/a	n/a
31	CTCF	chr6:29478100-29478250	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr6:29478140-29478290	GM06990	blood:	n/a	n/a
33	CTCF	chr6:29485071-29485350	K562	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
34	CTCF	chr6:29485081-29485288	H1-hESC	embryonic stem cell:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
35	CTCF	chr6:29478080-29478230	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr6:29478140-29478290	A549	lung:	n/a	n/a
37	CTCF	chr6:29485148-29485310	NHEK	skin:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
38	CTCF	chr6:29478105-29478296	HepG2	liver:	n/a	n/a
39	CTCF	chr6:29485940-29486090	WERI-Rb-1	eye:	n/a	chr6:29486001-29486009 chr6:29486042-29486052
40	CTCF	chr6:29478002-29478337	K562	blood:	n/a	n/a
41	CTCF	chr6:29485080-29485230	HepG2	liver:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
42	CTCF	chr6:29478100-29478250	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr6:29478080-29478230	Caco-2	colon:	n/a	n/a
44	CTCF	chr6:29478062-29478369	K562	blood:	n/a	n/a
45	CTCF	chr6:29478080-29478230	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr6:29485178-29485273	GM19240	blood:	n/a	chr6:29485207-29485216 chr6:29485201-29485219
47	CTCF	chr6:29478120-29478270	GM12870	blood:	n/a	n/a
48	CTCF	chr6:29478131-29478206	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr6:29478140-29478290	GM12875	blood:	n/a	n/a
50	CTCF	chr6:29478142-29478161	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:29460358..29463035-chr6:29483811..29485363,2	K562	blood:
2	chr6:29457898..29460263-chr6:29462415..29464583,2	K562	blood:
3	chr6:29470497..29473606-chr6:29476660..29479341,3	K562	blood:
4	chr6:29494254..29496248-chr6:29505741..29508107,2	K562	blood:
5	chr6:29484816..29486671-chr6:29489047..29491131,2	K562	blood:
6	chr6:29481318..29483910-chr6:29486622..29489549,2	K562	blood:
7	chr6:29470497..29473606-chr6:29476660..29479341,3	K562	blood:
8	chr6:29490586..29492205-chr6:29493882..29496471,2	K562	blood:
9	chr6:29477552..29479306-chr6:29484098..29486256,2	K562	blood:
10	chr6:29469820..29472263-chr6:29475289..29476878,2	MCF-7	breast:
11	chr6:29490586..29492205-chr6:29493882..29496471,2	K562	blood:
12	chr6:29469820..29472263-chr6:29475289..29476878,2	MCF-7	breast:
13	chr6:29394189..29395109-chr6:29478134..29478678,2	MCF-7	breast:
14	chr6:29483683..29485672-chr6:29497592..29500057,2	K562	blood:
15	chr6:29484816..29486671-chr6:29489047..29491131,2	K562	blood:
16	chr6:29481318..29483910-chr6:29486622..29489549,2	K562	blood:
17	chr6:29477552..29479306-chr6:29484098..29486256,2	K562	blood:

Variant related genes	Relation type
LINC01015	TF binding region
ENSG00000229274	TF binding region
ENSG00000229281	chromatin interactions

Extended variants
information (count: 998 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6907220	chr6:29464365-29464366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7746192	chr6:29468207-29468208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563122005	chr6:29468221-29468222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116395811	chr6:29468238-29468239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568680413	chr6:29468248-29468249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560833290	chr6:29468264-29468265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536122455	chr6:29468267-29468268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147693613	chr6:29468287-29468288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7746356	chr6:29468304-29468305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574882810	chr6:29468305-29468306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117484814	chr6:29468360-29468361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566142748	chr6:29468395-29468396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533044364	chr6:29468433-29468434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532020813	chr6:29468485-29468486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116166891	chr6:29468520-29468521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115095944	chr6:29468532-29468533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142494952	chr6:29468545-29468546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60614201	chr6:29468557-29468558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557288594	chr6:29468562-29468563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146791985	chr6:29468566-29468567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536946566	chr6:29468572-29468573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186108966	chr6:29468574-29468575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141015773	chr6:29468575-29468576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191024548	chr6:29468600-29468601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114209182	chr6:29468611-29468612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147949087	chr6:29468623-29468624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531995823	chr6:29468637-29468638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544359924	chr6:29468639-29468640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572570116	chr6:29468647-29468648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149001090	chr6:29468654-29468655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143837047	chr6:29468687-29468688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16894983	chr6:29468710-29468711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148191012	chr6:29468733-29468734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1233487	chr6:29468809-29468810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs532113726	chr6:29468818-29468819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375113008	chr6:29468827-29468828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568901451	chr6:29468893-29468894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6913621	chr6:29468902-29468903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573888101	chr6:29468924-29468925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551150427	chr6:29468943-29468944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9257873	chr6:29468968-29468969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536884309	chr6:29469087-29469088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553697298	chr6:29469144-29469145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567197978	chr6:29469159-29469160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112988760	chr6:29469165-29469166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145307346	chr6:29469243-29469244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558694714	chr6:29469254-29469255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371147072	chr6:29469277-29469278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73400990	chr6:29469286-29469287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537956525	chr6:29469297-29469298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29464000-29464400	Enhancers	K562	blood
2	chr6:29468200-29468400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:29468400-29468600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:29468600-29496200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:29469800-29471400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:29469800-29471400	Enhancers	NH-A	brain
7	chr6:29470000-29470200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:29470200-29470600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:29470200-29470600	Enhancers	NHEK	skin
10	chr6:29470200-29470800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:29470200-29471200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:29470200-29471200	Enhancers	NHDF-Ad	bronchial
13	chr6:29470400-29471000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:29472800-29473200	Enhancers	HepG2	liver
15	chr6:29475200-29477800	Enhancers	GM12878-XiMat	blood
16	chr6:29475600-29475800	Enhancers	HSMMtube	muscle
17	chr6:29475800-29476000	Flanking Active TSS	HSMMtube	muscle
18	chr6:29476800-29481600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:29477400-29478800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:29477400-29478800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:29477400-29478800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:29478000-29478200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr6:29478000-29478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:29478000-29478600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:29478600-29483800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:29480600-29481000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr6:29480800-29481200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:29481000-29481600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:29481600-29482600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:29481600-29483800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:29482600-29483600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:29483400-29484600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:29483400-29484800	Enhancers	HMEC	breast
34	chr6:29483600-29484400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:29483600-29484800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:29483600-29484800	Enhancers	NHEK	skin
37	chr6:29483800-29484200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:29483800-29484200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr6:29483800-29484600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:29483800-29484600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:29483800-29484600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:29484000-29484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:29484000-29484400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:29484000-29484400	Enhancers	Hela-S3	cervix
45	chr6:29484000-29484600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:29484400-29488200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:29484600-29488000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:29487000-29487200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr6:29488000-29488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:29488200-29488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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