Variant report

Variant	nsv428153
Chromosome Location	chr6:118430517-118586974
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:118583891..118586738-chr6:118590276..118592414,3	K562	blood:
2	chr6:118497942..118499914-chr6:118507313..118509277,2	K562	blood:
3	chr6:118517764..118519437-chr6:118521180..118522818,2	K562	blood:
4	chr6:118523328..118525793-chr6:118533182..118535157,2	K562	blood:
5	chr6:118523328..118525793-chr6:118533182..118535157,2	K562	blood:
6	chr6:118423532..118426658-chr6:118429132..118430973,3	K562	blood:
7	chr6:118461374..118463460-chr6:118465097..118466789,2	K562	blood:
8	chr6:118571150..118573393-chr6:118577208..118579127,2	K562	blood:
9	chr6:118499027..118502230-chr6:118502546..118505884,3	K562	blood:
10	chr6:118453596..118455211-chr6:118457163..118459104,2	K562	blood:
11	chr6:118520065..118521759-chr6:118524988..118527142,2	K562	blood:
12	chr6:118461374..118463460-chr6:118465097..118466789,2	K562	blood:
13	chr6:118580067..118582509-chr6:118587537..118590016,2	K562	blood:
14	chr6:118453596..118455211-chr6:118457163..118459104,2	K562	blood:
15	chr6:118499027..118502230-chr6:118502546..118505884,3	K562	blood:
16	chr6:118296981..118297885-chr6:118584825..118585802,4	MCF-7	breast:
17	chr6:118497942..118499914-chr6:118507313..118509277,2	K562	blood:
18	chr6:118531631..118532132-chr8:117727994..117728563,2	MCF-7	breast:
19	chr6:118571150..118573393-chr6:118577208..118579127,2	K562	blood:
20	chr6:118517764..118519437-chr6:118521180..118522818,2	K562	blood:
21	chr6:118467974..118468474-chr7:1126259..1126836,2	MCF-7	breast:
22	chr6:118520065..118521759-chr6:118524988..118527142,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164850	chromatin interactions

Extended variants
information (count: 5225 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:5225 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552515652	chr6:118430526-118430527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551967632	chr6:118430563-118430564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558836339	chr6:118430576-118430577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34008090	chr6:118430584-118430585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541196433	chr6:118430593-118430594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542874667	chr6:118430595-118430596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561572018	chr6:118430596-118430597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576560442	chr6:118430603-118430604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543926732	chr6:118430631-118430632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565219338	chr6:118430646-118430647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534919748	chr6:118430744-118430745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189321408	chr6:118430773-118430774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547835753	chr6:118430807-118430808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549268435	chr6:118430816-118430817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71554890	chr6:118430817-118430818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398048792	chr6:118430826-118430827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552690339	chr6:118430842-118430843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559738663	chr6:118430901-118430902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530024972	chr6:118430913-118430914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548176888	chr6:118430916-118430917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112436192	chr6:118430931-118430932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564104118	chr6:118430941-118430942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552280626	chr6:118430984-118430985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570224920	chr6:118431021-118431022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534383965	chr6:118431134-118431135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535184669	chr6:118431139-118431140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369137172	chr6:118431266-118431267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552550407	chr6:118431308-118431309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567711215	chr6:118431312-118431313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1334829	chr6:118431323-118431324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187725913	chr6:118431358-118431359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575433525	chr6:118431361-118431362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1334830	chr6:118431364-118431365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs9489306	chr6:118431369-118431370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543671595	chr6:118431400-118431401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181738560	chr6:118431433-118431434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558394660	chr6:118431448-118431449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577420578	chr6:118431449-118431450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2501514	chr6:118431487-118431488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559825398	chr6:118431505-118431506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144291972	chr6:118431553-118431554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2484142	chr6:118431570-118431571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs58772909	chr6:118431610-118431611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533298693	chr6:118431653-118431654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530795747	chr6:118431665-118431666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2484145	chr6:118431681-118431682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543300830	chr6:118431684-118431685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147370680	chr6:118431752-118431753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528214930	chr6:118431799-118431800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185591695	chr6:118431819-118431820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	22522925	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118424000-118430600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:118428000-118436200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:118430400-118431000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:118430600-118431000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:118431000-118432600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:118432600-118433200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr6:118436200-118436600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:118437400-118437600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:118438000-118439400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:118439400-118440200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:118440200-118442200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:118441000-118442600	Enhancers	Fetal Heart	heart
13	chr6:118442200-118443600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:118442400-118443600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:118442600-118443000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:118442600-118443600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:118442600-118443800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:118442600-118445800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:118442800-118443600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:118443400-118443800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:118443400-118444000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:118443400-118444000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:118443600-118443800	Enhancers	Brain Germinal Matrix	brain
24	chr6:118443600-118444200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr6:118443600-118444200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:118444000-118445000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:118444200-118444400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:118444200-118445800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:118444400-118444600	Enhancers	Brain Germinal Matrix	brain
30	chr6:118445000-118446400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:118450400-118450800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:118450400-118451200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr6:118453400-118456800	Enhancers	Fetal Lung	lung
34	chr6:118454000-118454200	Enhancers	Brain Germinal Matrix	brain
35	chr6:118454000-118454600	Enhancers	Fetal Kidney	kidney
36	chr6:118454000-118457200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:118454000-118457400	Enhancers	Fetal Stomach	stomach
38	chr6:118454000-118460200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr6:118454200-118454400	Enhancers	Brain Anterior Caudate	brain
40	chr6:118454200-118455200	Weak transcription	Brain Germinal Matrix	brain
41	chr6:118454200-118457200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:118454400-118455400	Weak transcription	Brain Anterior Caudate	brain
43	chr6:118454600-118455000	Weak transcription	Fetal Kidney	kidney
44	chr6:118455000-118455800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:118455000-118455800	Enhancers	Right Atrium	heart
46	chr6:118455000-118456000	Enhancers	Left Ventricle	heart
47	chr6:118455000-118456400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:118455000-118456400	Enhancers	Fetal Kidney	kidney
49	chr6:118455200-118455800	Enhancers	Stomach Smooth Muscle	stomach
50	chr6:118455200-118456200	Enhancers	Brain Cingulate Gyrus	brain

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