Variant report

Variant	nsv520078
Chromosome Location	chr6:161814907-161860010
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
2	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:
3	chr6:161815002..161815512-chr6:161919264..161919910,2	K562	blood:
4	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
5	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
6	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:
7	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
8	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
9	chr6:161809042..161810655-chr6:161813271..161814976,2	MCF-7	breast:
10	chr6:161814672..161815385-chr6:161919205..161920148,2	MCF-7	breast:
11	chr5:153090609..153093589-chr6:161855798..161858427,3	MCF-7	breast:
12	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
13	chr6:161817088..161818621-chr6:161820651..161823071,2	K562	blood:
14	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
15	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
16	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
17	chr3:161087670..161090609-chr6:161855286..161856788,2	MCF-7	breast:
18	chr6:161839144..161840001-chr6:161919199..161919993,2	MCF-7	breast:
19	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
20	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:
21	chr6:161850853..161851797-chr6:161918921..161919717,2	MCF-7	breast:
22	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
23	chr6:161817088..161818621-chr6:161820651..161823071,2	K562	blood:
24	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
25	chr6:161813445..161815530-chr6:162115453..162117705,2	MCF-7	breast:
26	chr6:161839408..161840069-chr6:161919484..161920171,3	K562	blood:
27	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
28	chr6:161826891..161829319-chr6:161893488..161895593,2	K562	blood:
29	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 1954 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12210160	chr6:161814907-161814908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532942540	chr6:161814924-161814925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552629427	chr6:161814978-161814979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550177885	chr6:161814993-161814994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564024326	chr6:161815022-161815023	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563498261	chr6:161815048-161815049	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549193731	chr6:161815054-161815055	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190732392	chr6:161815059-161815060	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529668666	chr6:161815060-161815061	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551471471	chr6:161815069-161815070	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543359711	chr6:161815072-161815073	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374246721	chr6:161815079-161815080	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537477758	chr6:161815080-161815081	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140810682	chr6:161815085-161815086	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370934513	chr6:161815105-161815106	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115011750	chr6:161815129-161815130	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535639704	chr6:161815130-161815131	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555638838	chr6:161815154-161815155	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71688699	chr6:161815192-161815193	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572276675	chr6:161815195-161815196	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541079747	chr6:161815196-161815197	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564228155	chr6:161815259-161815260	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9355895	chr6:161815279-161815280	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs3924681	chr6:161815315-161815316	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543439257	chr6:161815339-161815340	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181976827	chr6:161815368-161815369	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571847285	chr6:161815389-161815390	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144639153	chr6:161815392-161815393	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148225724	chr6:161815412-161815413	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs36089862	chr6:161815427-161815428	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs528666610	chr6:161815506-161815507	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs551558813	chr6:161815529-161815530	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs3924680	chr6:161815583-161815584	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141513840	chr6:161815584-161815585	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550997312	chr6:161815595-161815596	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569954026	chr6:161815626-161815627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187333304	chr6:161815640-161815641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374804816	chr6:161815660-161815661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371848090	chr6:161815687-161815688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138326014	chr6:161815688-161815689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77746831	chr6:161815728-161815729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75403136	chr6:161815729-161815730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77093892	chr6:161815730-161815731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557551590	chr6:161815733-161815734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144049604	chr6:161815747-161815748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543047489	chr6:161815765-161815766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147329075	chr6:161815772-161815773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140680802	chr6:161815783-161815784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542868352	chr6:161815788-161815789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559644384	chr6:161815792-161815793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD

Chromatin state (count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161780600-161835800	Weak transcription	Right Atrium	heart
2	chr6:161797600-161815000	Weak transcription	Fetal Lung	lung
3	chr6:161811000-161815400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:161811200-161815000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:161814400-161815000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:161814400-161815600	Enhancers	Psoas Muscle	Psoas
7	chr6:161814400-161817800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr6:161814600-161815000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:161814600-161815600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:161814800-161817800	Enhancers	Brain Germinal Matrix	brain
11	chr6:161815000-161815200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:161815000-161815200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:161815000-161815200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:161815000-161815200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr6:161815000-161815200	Active TSS	HSMMtube	muscle
16	chr6:161815000-161815200	Active TSS	NHDF-Ad	bronchial
17	chr6:161815000-161815200	Active TSS	NHEK	skin
18	chr6:161815000-161815200	Enhancers	Osteobl	bone
19	chr6:161815000-161815400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:161815000-161815400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr6:161815000-161815400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:161815000-161815400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:161815000-161815400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:161815000-161815400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:161815000-161815400	Enhancers	Fetal Kidney	kidney
26	chr6:161815000-161815400	Flanking Active TSS	Fetal Lung	lung
27	chr6:161815000-161815400	Active TSS	Stomach Smooth Muscle	stomach
28	chr6:161815000-161815600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr6:161815000-161815800	Enhancers	HSMM	muscle
30	chr6:161815200-161815400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:161815200-161815400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:161815200-161815400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:161815200-161815400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:161815200-161815400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:161815200-161815400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:161815200-161815400	Enhancers	Duodenum Mucosa	Duodenum
37	chr6:161815200-161815400	Enhancers	Fetal Brain Female	brain
38	chr6:161815200-161815400	Flanking Active TSS	HSMMtube	muscle
39	chr6:161815200-161815400	Flanking Active TSS	K562	blood
40	chr6:161815200-161815400	Flanking Active TSS	NHDF-Ad	bronchial
41	chr6:161815200-161815400	Flanking Active TSS	Osteobl	bone
42	chr6:161815200-161815600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:161815200-161815600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:161815200-161815600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr6:161815200-161815600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr6:161815200-161815600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr6:161815200-161815600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr6:161815200-161815600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:161815200-161815600	Enhancers	Brain Substantia Nigra	brain
50	chr6:161815200-161815600	Enhancers	Dnd41	blood

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