Variant report

Variant	nsv432972
Chromosome Location	chr6:162128543-162344712
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
2	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
3	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
4	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
5	chr20:46012429..46013123-chr6:162169752..162170322,2	MCF-7	breast:
6	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
7	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
8	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
9	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:
10	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
11	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
12	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
13	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
14	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
15	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
16	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
17	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
18	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
19	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
20	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
21	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
22	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
23	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
24	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
25	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:

No data

Extended variants
information (count: 9580 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:9580 , 50 per page) page: 1 2 3 4 5 6 7 ... 192

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6921226	chr6:162128543-162128544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551293237	chr6:162128569-162128570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184731561	chr6:162128572-162128573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6926004	chr6:162128586-162128587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs13206130	chr6:162128607-162128608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567411797	chr6:162128728-162128729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536001937	chr6:162128736-162128737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138338033	chr6:162128753-162128754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111271587	chr6:162128756-162128757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67110053	chr6:162128757-162128758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546669735	chr6:162128804-162128805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372358578	chr6:162128832-162128833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538622661	chr6:162128856-162128857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558552196	chr6:162128892-162128893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554289075	chr6:162128905-162128906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576027959	chr6:162128920-162128921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13209587	chr6:162128936-162128937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77966055	chr6:162128939-162128940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140762915	chr6:162128968-162128969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76833568	chr6:162129040-162129041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144611580	chr6:162129051-162129052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560616323	chr6:162129053-162129054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117924379	chr6:162129065-162129066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555243877	chr6:162129072-162129073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541920268	chr6:162129087-162129088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562517833	chr6:162129114-162129115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368484286	chr6:162129122-162129123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80153079	chr6:162129152-162129153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189016239	chr6:162129176-162129177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6931458	chr6:162129179-162129180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4709546	chr6:162129181-162129182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566576551	chr6:162129185-162129186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532215781	chr6:162129186-162129187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552203608	chr6:162129230-162129231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116512044	chr6:162129266-162129267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538579887	chr6:162129267-162129268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370564204	chr6:162129275-162129276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371390479	chr6:162129288-162129289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184278185	chr6:162129353-162129354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568589225	chr6:162129374-162129375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148949697	chr6:162129375-162129376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189478088	chr6:162129400-162129401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568143411	chr6:162129437-162129438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116055568	chr6:162129448-162129449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374524747	chr6:162129492-162129493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67537331	chr6:162129494-162129495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545902175	chr6:162129509-162129510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200334149	chr6:162129510-162129511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181863653	chr6:162129523-162129524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556177005	chr6:162129532-162129533	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:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162119600-162135600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:162137000-162137400	Enhancers	Fetal Brain Male	brain
3	chr6:162137000-162138000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:162137200-162138000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:162137600-162138000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:162137800-162138400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:162138000-162143000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:162138000-162148200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:162138400-162139800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:162139800-162141000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:162141000-162141400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:162141400-162141600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:162141600-162148000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:162142200-162142800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:162142800-162148000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:162143000-162143200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:162147600-162148800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:162147800-162148400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:162147800-162148800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:162148000-162148600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:162148000-162148800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:162148000-162148800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:162148000-162148800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:162148000-162148800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:162148000-162148800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:162148000-162148800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:162148000-162148800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:162148000-162149600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:162148200-162148600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:162148200-162148800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:162148200-162149600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:162148800-162153600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:162148800-162157600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:162149600-162153800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:162153600-162154200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:162153800-162154400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:162154200-162157200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:162154400-162157000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:162157000-162158000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:162157200-162157600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:162157200-162157800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:162157200-162158000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:162157600-162158000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:162158000-162158400	Enhancers	Fetal Thymus	thymus
45	chr6:162158000-162165400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:162161200-162161400	Enhancers	Duodenum Mucosa	Duodenum
47	chr6:162161400-162161800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:162161400-162161800	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr6:162161800-162162600	Enhancers	Duodenum Mucosa	Duodenum
50	chr6:162161800-162163800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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