Variant report

Variant	nsv886088
Chromosome Location	chr6:67732748-67799565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:67731062..67733775-chr6:67734181..67735767,2	MCF-7	breast:
2	chr6:67783004..67786159-chr6:67787646..67791458,3	K562	blood:
3	chr6:67731062..67733775-chr6:67734181..67735767,2	MCF-7	breast:
4	chr6:67782061..67786173-chr6:67786217..67792802,8	K562	blood:
5	chr6:67776060..67776970-chr6:67797443..67798057,2	MCF-7	breast:
6	chr6:67754798..67756430-chr6:67760410..67762819,2	MCF-7	breast:
7	chr6:67767080..67769379-chr6:67772486..67774394,2	K562	blood:
8	chr6:67782061..67786173-chr6:67786217..67792802,8	K562	blood:
9	chr6:67779443..67782411-chr6:67785393..67788162,4	K562	blood:
10	chr6:67776060..67776970-chr6:67797443..67798057,2	MCF-7	breast:
11	chr6:67783004..67786159-chr6:67787646..67791458,3	K562	blood:
12	chr6:67776186..67778175-chr6:67786497..67788108,2	K562	blood:
13	chr6:67778065..67781225-chr6:67782008..67784983,4	K562	blood:
14	chr6:67776186..67778175-chr6:67786497..67788108,2	K562	blood:
15	chr6:67754608..67756147-chr6:67757015..67759750,2	MCF-7	breast:
16	chr6:67754608..67756147-chr6:67757015..67759750,2	MCF-7	breast:
17	chr6:67754798..67756430-chr6:67760410..67762819,2	MCF-7	breast:
18	chr6:67797177..67799198-chr6:67799977..67801822,2	K562	blood:
19	chr6:67778065..67781225-chr6:67782008..67784983,4	K562	blood:
20	chr6:67796143..67796843-chr6:68573181..68573682,2	MCF-7	breast:
21	chr6:67779443..67782411-chr6:67785393..67788162,4	K562	blood:
22	chr6:67767080..67769379-chr6:67772486..67774394,2	K562	blood:
23	chr6:67774843..67776777-chr6:69022561..69024613,2	MCF-7	breast:

No data

Extended variants
information (count: 473 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:473 , 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	rs1463321	chr6:67737802-67737803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550132980	chr6:67737827-67737828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7449636	chr6:67737872-67737873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9453975	chr6:67737888-67737889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191178898	chr6:67737915-67737916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10944947	chr6:67737928-67737929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183736298	chr6:67737931-67737932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566081348	chr6:67737937-67737938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375379461	chr6:67737942-67737943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188496409	chr6:67737947-67737948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547692552	chr6:67737972-67737973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567477453	chr6:67737974-67737975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375509830	chr6:67737978-67737979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4235984	chr6:67738061-67738062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569411460	chr6:67738178-67738179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181345619	chr6:67738187-67738188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558091325	chr6:67738193-67738194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139769934	chr6:67738242-67738243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372638977	chr6:67738290-67738291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542488429	chr6:67738327-67738328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143953947	chr6:67738328-67738329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149271666	chr6:67738336-67738337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77026501	chr6:67738364-67738365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79797380	chr6:67738409-67738410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561437465	chr6:67738430-67738431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575061689	chr6:67738449-67738450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554091845	chr6:67738451-67738452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200940599	chr6:67738478-67738479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543983904	chr6:67738537-67738538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142646884	chr6:67738563-67738564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6903355	chr6:67738629-67738630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186555714	chr6:67738653-67738654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545801297	chr6:67738694-67738695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559748768	chr6:67738719-67738720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528466491	chr6:67738755-67738756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564194053	chr6:67738761-67738762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150993703	chr6:67738768-67738769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6903563	chr6:67738786-67738787	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529991112	chr6:67738790-67738791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549904017	chr6:67738835-67738836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532795559	chr6:67738868-67738869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372792139	chr6:67738874-67738875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569526818	chr6:67738890-67738891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538314391	chr6:67738897-67738898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532238181	chr6:67738960-67738961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139566990	chr6:67738985-67738986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565463506	chr6:67739013-67739014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534592945	chr6:67739044-67739045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189824869	chr6:67739049-67739050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531712235	chr6:67739054-67739055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67737800-67738800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:67738800-67739200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:67740800-67741200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:67741000-67741800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:67741400-67742600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:67741600-67742000	Active TSS	Fetal Kidney	kidney
7	chr6:67741600-67742200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:67741800-67742400	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr6:67742000-67742400	Active TSS	Primary hematopoietic stem cells	blood
10	chr6:67751200-67752400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:67752400-67752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:67754400-67754600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:67769400-67769800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:67772400-67775200	Active TSS	K562	blood
15	chr6:67778400-67779800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:67786400-67786800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:67789800-67790200	Enhancers	Liver	Liver

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