Variant report

Variant	nsv1023319
Chromosome Location	chr6:161817703-161860636
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
2	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:
3	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
4	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
5	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:
6	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
7	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:
8	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
9	chr6:161860070..161861572-chr6:161862140..161863792,2	MCF-7	breast:
10	chr5:153090609..153093589-chr6:161855798..161858427,3	MCF-7	breast:
11	chr3:161087670..161090609-chr6:161855286..161856788,2	MCF-7	breast:
12	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
13	chr6:161826891..161829319-chr6:161893488..161895593,2	K562	blood:
14	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
15	chr6:161817088..161818621-chr6:161820651..161823071,2	K562	blood:
16	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
17	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
18	chr6:161850853..161851797-chr6:161918921..161919717,2	MCF-7	breast:
19	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
20	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
21	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
22	chr6:161817088..161818621-chr6:161820651..161823071,2	K562	blood:
23	chr6:161839144..161840001-chr6:161919199..161919993,2	MCF-7	breast:
24	chr6:161839408..161840069-chr6:161919484..161920171,3	K562	blood:
25	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
26	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 1855 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1855 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565168678	chr6:161817708-161817709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144012622	chr6:161817715-161817716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377704661	chr6:161817716-161817717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184034800	chr6:161817717-161817718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113683602	chr6:161817720-161817721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560712066	chr6:161817807-161817808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76158172	chr6:161817821-161817822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188963852	chr6:161817840-161817841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538589206	chr6:161817910-161817911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566475515	chr6:161817928-161817929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79551042	chr6:161817962-161817963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62435892	chr6:161817993-161817994	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs114251764	chr6:161818000-161818001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531995546	chr6:161818016-161818017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534540076	chr6:161818029-161818030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116407907	chr6:161818031-161818032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555310508	chr6:161818063-161818064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373780393	chr6:161818101-161818102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575052548	chr6:161818119-161818120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191589451	chr6:161818136-161818137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377239647	chr6:161818162-161818163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554215308	chr6:161818164-161818165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577298710	chr6:161818190-161818191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73606928	chr6:161818191-161818192	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554713904	chr6:161818193-161818194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550302988	chr6:161818238-161818239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544069774	chr6:161818255-161818256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574481835	chr6:161818266-161818267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16892492	chr6:161818323-161818324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs13220090	chr6:161818326-161818327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540072703	chr6:161818361-161818362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560184340	chr6:161818373-161818374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532155794	chr6:161818402-161818403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116729679	chr6:161818407-161818408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568719317	chr6:161818430-161818431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531348115	chr6:161818546-161818547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548870779	chr6:161818604-161818605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182124923	chr6:161818665-161818666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142980654	chr6:161818669-161818670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62435893	chr6:161818689-161818690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150834886	chr6:161818728-161818729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114850767	chr6:161818809-161818810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565578773	chr6:161818830-161818831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556637626	chr6:161818885-161818886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576002403	chr6:161818904-161818905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541851082	chr6:161818927-161818928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187187515	chr6:161818957-161818958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569970674	chr6:161818967-161818968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191689081	chr6:161818979-161818980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112729181	chr6:161819035-161819036	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:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161780600-161835800	Weak transcription	Right Atrium	heart
2	chr6:161814400-161817800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr6:161814800-161817800	Enhancers	Brain Germinal Matrix	brain
4	chr6:161815200-161817800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:161815800-161817800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:161816200-161818000	Enhancers	Fetal Muscle Leg	muscle
7	chr6:161816400-161818000	Enhancers	Fetal Brain Male	brain
8	chr6:161816600-161818000	Enhancers	Fetal Brain Female	brain
9	chr6:161816800-161817800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:161816800-161818000	Enhancers	Pancreas	Pancrea
11	chr6:161817200-161818400	Enhancers	HMEC	breast
12	chr6:161817600-161818200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:161817600-161818200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:161817600-161818200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:161817600-161818400	Enhancers	NHEK	skin
16	chr6:161817800-161818200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:161818000-161828600	Weak transcription	Pancreas	Pancrea
18	chr6:161818200-161826800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:161819600-161819800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:161819600-161820600	ZNF genes & repeats	Aorta	Aorta
21	chr6:161820400-161821800	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:161821000-161821400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:161821000-161823400	Enhancers	Fetal Muscle Leg	muscle
24	chr6:161821200-161823200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:161821400-161821600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:161821600-161822000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr6:161821600-161822200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:161821600-161823200	Enhancers	HSMM	muscle
29	chr6:161821800-161834000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:161822000-161822200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:161822000-161823600	Enhancers	K562	blood
32	chr6:161822200-161823600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:161822800-161823400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:161822800-161823400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:161823200-161823400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:161823200-161823600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:161823400-161824000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:161823400-161824400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:161823600-161824000	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:161823600-161824200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:161823600-161829000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:161824000-161824200	Enhancers	A549	lung
43	chr6:161824000-161824600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:161824000-161828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:161824200-161826800	Weak transcription	A549	lung
46	chr6:161824400-161824800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:161824400-161825000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:161824600-161824800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:161824600-161825400	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr6:161824800-161825400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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