Variant report

Variant	nsv969441
Chromosome Location	chr6:121768171-121770647
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:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

No data

(count:10 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	GJA1	hsa-miR-206	chr6:121769606-121769627
2	GJA1	hsa-miR-23b-3p	chr6:121770343-121770360
3	GJA1	hsa-miR-1	chr6:121769813-121769836
4	GJA1	hsa-miR-342-3p	chr6:121770355-121770361
5	GJA1	hsa-miR-206	chr6:121769813-121769836
6	GJA1	hsa-miR-23b-3p	chr6:121770381-121770401
7	GJA1	hsa-miR-206	chr6:121769620-121769627
8	GJA1	hsa-miR-23b-3p	chr6:121770353-121770359
9	GJA1	hsa-miR-1	chr6:121769620-121769627
10	GJA1	hsa-miR-1	chr6:121769605-121769627

Extended variants
information (count: 116 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139688042	chr6:121768182-121768183	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374218530	chr6:121768196-121768197	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575737793	chr6:121768209-121768210	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs267606845	chr6:121768219-121768220	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs267606844	chr6:121768220-121768221	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72548740	chr6:121768260-121768261	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28931601	chr6:121768279-121768280	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544249730	chr6:121768302-121768303	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145279962	chr6:121768320-121768321	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564147427	chr6:121768340-121768341	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577579283	chr6:121768369-121768370	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201088822	chr6:121768404-121768405	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28931600	chr6:121768420-121768421	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201994305	chr6:121768425-121768426	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72548741	chr6:121768449-121768450	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559636710	chr6:121768459-121768460	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79357545	chr6:121768462-121768463	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369139298	chr6:121768494-121768495	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111717577	chr6:121768495-121768496	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377077470	chr6:121768501-121768502	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528368757	chr6:121768503-121768504	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370071579	chr6:121768520-121768521	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377427187	chr6:121768524-121768525	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542057909	chr6:121768548-121768549	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369064392	chr6:121768561-121768562	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561686365	chr6:121768562-121768563	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs104893966	chr6:121768574-121768575	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397518464	chr6:121768610-121768611	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530633057	chr6:121768617-121768618	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147637926	chr6:121768650-121768651	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148384161	chr6:121768699-121768700	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570483305	chr6:121768701-121768702	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143026885	chr6:121768705-121768706	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs57946868	chr6:121768710-121768711	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140144121	chr6:121768711-121768712	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145367364	chr6:121768712-121768713	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138386744	chr6:121768717-121768718	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550138040	chr6:121768722-121768723	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367628979	chr6:121768726-121768727	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192870757	chr6:121768739-121768740	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372983194	chr6:121768747-121768748	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17653265	chr6:121768751-121768752	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138941844	chr6:121768758-121768759	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs55796648	chr6:121768761-121768762	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149442143	chr6:121768777-121768778	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376074787	chr6:121768807-121768808	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs67407537	chr6:121768830-121768831	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555927773	chr6:121768853-121768854	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562513101	chr6:121768861-121768862	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370436837	chr6:121768878-121768879	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
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	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121759800-121769400	Weak transcription	Fetal Kidney	kidney
2	chr6:121761000-121768400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:121761600-121768200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:121762400-121768200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:121762400-121768200	Enhancers	HMEC	breast
6	chr6:121763000-121768400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:121763200-121768400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:121764200-121771800	Weak transcription	Brain Anterior Caudate	brain
9	chr6:121764200-121775200	Weak transcription	Psoas Muscle	Psoas
10	chr6:121764600-121769000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:121764600-121771600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:121765600-121769800	Weak transcription	A549	lung
13	chr6:121765600-121771400	Strong transcription	NHDF-Ad	bronchial
14	chr6:121765600-121771600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:121766000-121768400	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:121766000-121772200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:121766200-121768400	Weak transcription	Right Ventricle	heart
18	chr6:121766200-121769600	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:121766200-121769800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:121766200-121771200	Strong transcription	NH-A	brain
21	chr6:121766200-121772000	Strong transcription	HUVEC	blood vessel
22	chr6:121766400-121769800	Strong transcription	Osteobl	bone
23	chr6:121766400-121771400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:121766400-121771600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:121766600-121771400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr6:121766600-121771600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:121766800-121770000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:121766800-121771400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:121767000-121771000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:121767000-121771400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:121767000-121771400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:121767200-121768400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:121767200-121771400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:121767400-121769200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:121767400-121771000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr6:121767600-121768200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:121767600-121768400	Strong transcription	Aorta	Aorta
38	chr6:121767600-121768400	Genic enhancers	NHEK	skin
39	chr6:121767600-121768600	Genic enhancers	Fetal Heart	heart
40	chr6:121767600-121768600	Enhancers	Right Atrium	heart
41	chr6:121767600-121769200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:121767600-121769200	Strong transcription	Fetal Intestine Small	intestine
43	chr6:121767600-121769200	Strong transcription	Fetal Stomach	stomach
44	chr6:121767600-121769400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:121767600-121769400	Strong transcription	Fetal Muscle Leg	muscle
46	chr6:121767600-121770000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr6:121767600-121770000	Strong transcription	Fetal Lung	lung
48	chr6:121767600-121770600	Strong transcription	Fetal Intestine Large	intestine
49	chr6:121767600-121771000	Strong transcription	Adipose Nuclei	Adipose
50	chr6:121767600-121771400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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