Variant report

Variant	nsv996314
Chromosome Location	chr6:162113360-162351639
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
2	chr20:46012429..46013123-chr6:162169752..162170322,2	MCF-7	breast:
3	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
4	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
5	chr6:162039551..162040468-chr6:162115665..162116674,7	MCF-7	breast:
6	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
7	chr6:162115124..162116676-chr6:162119287..162121862,2	K562	blood:
8	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
9	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
10	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
11	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:
12	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
13	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
14	chr6:162115124..162116676-chr6:162119287..162121862,2	K562	blood:
15	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
16	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
17	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
18	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
19	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
20	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
21	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
22	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:
23	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
24	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
25	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
26	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
27	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
28	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
29	chr6:161813445..161815530-chr6:162115453..162117705,2	MCF-7	breast:
30	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
31	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
32	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:

No data

Extended variants
information (count: 10442 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:10442 , 50 per page) page: 1 2 3 4 5 6 7 ... 209

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535423423	chr6:162113377-162113378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549461237	chr6:162113393-162113394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566012792	chr6:162113409-162113410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527237823	chr6:162113421-162113422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183674415	chr6:162113544-162113545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569961179	chr6:162113572-162113573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144475482	chr6:162113587-162113588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187931432	chr6:162113597-162113598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546896622	chr6:162113614-162113615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577788547	chr6:162113652-162113653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62439163	chr6:162113670-162113671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537152047	chr6:162113679-162113680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536961549	chr6:162113684-162113685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190679992	chr6:162113743-162113744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34508077	chr6:162113745-162113746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573996594	chr6:162113767-162113768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566786939	chr6:162113802-162113803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555732287	chr6:162113849-162113850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572383507	chr6:162113883-162113884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541301897	chr6:162113891-162113892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112869587	chr6:162113912-162113913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370585938	chr6:162113946-162113947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59954623	chr6:162113980-162113981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398003244	chr6:162113992-162113993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182756278	chr6:162114065-162114066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528510177	chr6:162114121-162114122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187152977	chr6:162114130-162114131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535672601	chr6:162114145-162114146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191651097	chr6:162114150-162114151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4709545	chr6:162114176-162114177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565303115	chr6:162114181-162114182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373732172	chr6:162114183-162114184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569285755	chr6:162114184-162114185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116402222	chr6:162114204-162114205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184492106	chr6:162114288-162114289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147353479	chr6:162114289-162114290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113264173	chr6:162114292-162114293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79494796	chr6:162114293-162114294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557202309	chr6:162114345-162114346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567731757	chr6:162114437-162114438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536312840	chr6:162114446-162114447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553422359	chr6:162114451-162114452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73031062	chr6:162114457-162114458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558053273	chr6:162114513-162114514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114472344	chr6:162114558-162114559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187205131	chr6:162114587-162114588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374140095	chr6:162114602-162114603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73031065	chr6:162114686-162114687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9365319	chr6:162114707-162114708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs116259872	chr6:162114713-162114714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:887 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162098800-162118000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:162115600-162116200	Enhancers	Liver	Liver
3	chr6:162116400-162119000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:162117000-162119000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:162117600-162119000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:162117800-162118600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:162117800-162118800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:162118000-162118200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:162118000-162118600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:162118200-162118800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:162118400-162118800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:162118600-162122000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:162119600-162135600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:162120200-162121600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:162122000-162122600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:162122000-162122600	Enhancers	Brain Hippocampus Middle	brain
17	chr6:162125600-162127400	Weak transcription	Aorta	Aorta
18	chr6:162126800-162127200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:162126800-162127400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:162126800-162127400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:162127000-162127600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:162127400-162127600	ZNF genes & repeats	Aorta	Aorta
23	chr6:162137000-162137400	Enhancers	Fetal Brain Male	brain
24	chr6:162137000-162138000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:162137200-162138000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:162137600-162138000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:162137800-162138400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:162138000-162143000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:162138000-162148200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:162138400-162139800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:162139800-162141000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:162141000-162141400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:162141400-162141600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:162141600-162148000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:162142200-162142800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:162142800-162148000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:162143000-162143200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:162147600-162148800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:162147800-162148400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:162147800-162148800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:162148000-162148600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:162148000-162148800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:162148000-162148800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:162148000-162148800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:162148000-162148800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:162148000-162148800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:162148000-162148800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:162148000-162148800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:162148000-162149600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:162148200-162148600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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