Variant report

Variant	nsv1032777
Chromosome Location	chr6:92319154-92352802
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:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146904036..146904863-chr6:92344357..92345281,2	MCF-7	breast:
2	chr6:92338713..92341211-chr6:92345122..92346785,2	K562	blood:
3	chr6:92319088..92321925-chr6:92341492..92343621,2	K562	blood:
4	chr6:92319363..92321986-chr6:92333888..92336265,2	MCF-7	breast:
5	chr6:92319363..92321986-chr6:92333888..92336265,2	MCF-7	breast:
6	chr6:92319088..92321925-chr6:92341492..92343621,2	K562	blood:
7	chr6:92307302..92309896-chr6:92322884..92325397,2	MCF-7	breast:
8	chr6:92338713..92341211-chr6:92345122..92346785,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP3K7-2	chr6:92343399-92343553	NONHSAT113994
2	lnc-MAP3K7-2	chr6:92338758-92339947	NONHSAT113994
3	lnc-MAP3K7-2	chr6:92343399-92343553	ENSG00000224944
4	lnc-MAP3K7-2	chr6:92339633-92339947	ENSG00000224944

No data

Extended variants
information (count: 427 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145997425	chr6:92319459-92319460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190055585	chr6:92319484-92319485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574687365	chr6:92319503-92319504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569706787	chr6:92319529-92319530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569694013	chr6:92319555-92319556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181630558	chr6:92319595-92319596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552203290	chr6:92319632-92319633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4315987	chr6:92319654-92319655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534930190	chr6:92319671-92319672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141378562	chr6:92319680-92319681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530078077	chr6:92319706-92319707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150369735	chr6:92319723-92319724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546695870	chr6:92319764-92319765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184777639	chr6:92319788-92319789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557109139	chr6:92319842-92319843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138750553	chr6:92319876-92319877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9359955	chr6:92319887-92319888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190031615	chr6:92319902-92319903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369124242	chr6:92319905-92319906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16884530	chr6:92319978-92319979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs552922648	chr6:92322454-92322455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534148600	chr6:92322496-92322497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572785920	chr6:92322522-92322523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543929175	chr6:92322562-92322563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570447877	chr6:92322592-92322593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16884538	chr6:92322593-92322594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71540026	chr6:92322710-92322711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7769243	chr6:92322711-92322712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186730929	chr6:92322717-92322718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191150784	chr6:92322738-92322739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542854829	chr6:92322754-92322755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367952062	chr6:92322760-92322761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575427336	chr6:92322862-92322863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544778659	chr6:92322959-92322960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145647047	chr6:92322967-92322968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531842300	chr6:92322968-92322969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183278793	chr6:92322983-92322984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142448275	chr6:92336665-92336666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558184657	chr6:92336670-92336671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144703701	chr6:92336672-92336673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181493093	chr6:92336702-92336703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs441997	chr6:92336720-92336721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547252279	chr6:92336745-92336746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567559371	chr6:92336762-92336763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536451856	chr6:92336774-92336775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537582472	chr6:92336806-92336807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368226945	chr6:92336816-92336817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556351270	chr6:92336831-92336832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576472513	chr6:92336881-92336882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151312702	chr6:92336889-92336890	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Prostate cancer	16573809	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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92319400-92320000	Enhancers	Fetal Kidney	kidney
2	chr6:92322400-92322800	Enhancers	Fetal Brain Male	brain
3	chr6:92322600-92323000	Enhancers	Fetal Brain Female	brain
4	chr6:92336600-92337200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:92341200-92341600	Enhancers	Fetal Brain Male	brain
6	chr6:92341600-92343000	Weak transcription	Fetal Brain Male	brain
7	chr6:92341800-92342000	Enhancers	Fetal Muscle Leg	muscle
8	chr6:92342000-92345000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:92342400-92343400	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:92342800-92343800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:92342800-92344200	Enhancers	Fetal Stomach	stomach
12	chr6:92342800-92345000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:92342800-92345400	Enhancers	Brain Germinal Matrix	brain
14	chr6:92343000-92343600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:92343000-92343800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:92343000-92343800	Enhancers	Fetal Brain Male	brain
17	chr6:92343000-92345200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:92343200-92343600	Enhancers	Colon Smooth Muscle	Colon
19	chr6:92343200-92343600	Active TSS	Duodenum Mucosa	Duodenum
20	chr6:92343200-92343800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:92343200-92343800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:92343200-92343800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:92343200-92343800	Enhancers	NHEK	skin
24	chr6:92343200-92344000	Enhancers	Fetal Kidney	kidney
25	chr6:92343200-92344000	Enhancers	Fetal Lung	lung
26	chr6:92343200-92344000	Enhancers	Ovary	ovary
27	chr6:92343200-92344600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:92343200-92344600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:92343200-92345000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:92343200-92345000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:92343200-92345000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:92343400-92343800	Enhancers	Fetal Muscle Leg	muscle
33	chr6:92343400-92345000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:92343800-92344200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:92343800-92344800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:92344000-92344400	Weak transcription	Ovary	ovary
37	chr6:92344000-92344800	Weak transcription	Fetal Kidney	kidney
38	chr6:92344000-92345000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:92344000-92345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:92344200-92344600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:92344400-92344800	Enhancers	Ovary	ovary
42	chr6:92344400-92345400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:92344800-92345000	Enhancers	Fetal Kidney	kidney
44	chr6:92345200-92347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:92345400-92347800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:92347400-92348600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:92347800-92348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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