Variant report

Variant	nsv1024381
Chromosome Location	chr6:92169962-92194575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:92162912..92165085-chr6:92173284..92175158,2	K562	blood:
2	chr11:120038556..120041207-chr6:92192652..92194152,2	MCF-7	breast:
3	chr22:22307186..22307807-chr6:92192652..92193172,2	K562	blood:
4	chr14:102789322..102789835-chr6:92192652..92193172,2	MCF-7	breast:
5	chr22:42227097..42229374-chr6:92192652..92194152,2	MCF-7	breast:
6	chr4:164415016..164417390-chr6:92192672..92194172,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100034	chromatin interactions
ENSG00000198911	chromatin interactions
ENSG00000198498	chromatin interactions
ENSG00000176984	chromatin interactions

Extended variants
information (count: 705 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182070290	chr6:92169968-92169969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577318922	chr6:92169969-92169970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546373633	chr6:92169990-92169991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9342279	chr6:92170010-92170011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377348048	chr6:92170212-92170213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572091537	chr6:92170242-92170243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375588942	chr6:92170251-92170252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143136829	chr6:92170277-92170278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76797778	chr6:92170298-92170299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372360157	chr6:92170313-92170314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147471942	chr6:92170371-92170372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186286044	chr6:92170401-92170402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9451712	chr6:92170406-92170407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552330271	chr6:92170460-92170461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566073238	chr6:92170487-92170488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190400875	chr6:92170499-92170500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548619997	chr6:92170504-92170505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568425685	chr6:92170513-92170514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140092782	chr6:92170538-92170539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112740184	chr6:92170543-92170544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571265203	chr6:92170564-92170565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367557733	chr6:92170676-92170677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142918780	chr6:92170678-92170679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539679757	chr6:92170679-92170680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562711095	chr6:92170698-92170699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553503066	chr6:92170736-92170737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571823272	chr6:92170806-92170807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182285398	chr6:92170832-92170833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150705235	chr6:92170839-92170840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139965889	chr6:92170863-92170864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186609556	chr6:92170884-92170885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563466458	chr6:92170909-92170910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532410532	chr6:92170910-92170911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552111968	chr6:92170921-92170922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549250446	chr6:92170949-92170950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554623102	chr6:92170955-92170956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189873126	chr6:92170963-92170964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368964267	chr6:92171037-92171038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548656666	chr6:92171039-92171040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551048461	chr6:92171080-92171081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567691511	chr6:92171116-92171117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183691351	chr6:92171130-92171131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114102138	chr6:92171191-92171192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4490641	chr6:92171219-92171220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs571087184	chr6:92171245-92171246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7766738	chr6:92171293-92171294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4291077	chr6:92171294-92171295	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559704843	chr6:92171300-92171301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553299545	chr6:92171318-92171319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4262163	chr6:92171326-92171327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

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

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92163400-92174000	Weak transcription	Fetal Kidney	kidney
2	chr6:92171200-92171800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:92171200-92171800	Enhancers	Fetal Lung	lung
4	chr6:92171800-92176600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:92174000-92174400	Enhancers	Fetal Kidney	kidney
6	chr6:92176600-92176800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:92183000-92183200	Enhancers	GM12878-XiMat	blood
8	chr6:92183200-92185600	Weak transcription	GM12878-XiMat	blood
9	chr6:92184400-92184600	Enhancers	Brain Cingulate Gyrus	brain
10	chr6:92184600-92184800	Enhancers	Aorta	Aorta
11	chr6:92184600-92185600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:92184800-92185800	Weak transcription	Aorta	Aorta
13	chr6:92185000-92185600	Active TSS	Brain Anterior Caudate	brain
14	chr6:92185400-92186000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:92185400-92186000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr6:92185400-92186200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:92185400-92186200	Enhancers	Dnd41	blood
18	chr6:92185400-92186400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:92185400-92186400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:92185400-92186800	Enhancers	HUVEC	blood vessel
21	chr6:92185600-92185800	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:92185600-92186000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:92185600-92186000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:92185600-92186000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:92185600-92186000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:92185600-92186000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:92185600-92186000	Enhancers	Adipose Nuclei	Adipose
28	chr6:92185600-92186000	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr6:92185600-92186000	Enhancers	Brain Cingulate Gyrus	brain
30	chr6:92185600-92186000	Enhancers	Fetal Muscle Leg	muscle
31	chr6:92185600-92186000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr6:92185600-92186000	Flanking Active TSS	GM12878-XiMat	blood
33	chr6:92185600-92186200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:92185600-92186200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:92185600-92186200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:92185600-92186200	Enhancers	Brain Hippocampus Middle	brain
37	chr6:92185600-92186200	Enhancers	Stomach Mucosa	stomach
38	chr6:92185600-92186200	Enhancers	NH-A	brain
39	chr6:92185600-92186400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:92185600-92186400	Enhancers	Hela-S3	cervix
41	chr6:92185800-92186000	Enhancers	Aorta	Aorta
42	chr6:92185800-92186000	Enhancers	Brain Substantia Nigra	brain
43	chr6:92185800-92186000	Enhancers	HSMMtube	muscle
44	chr6:92185800-92186000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr6:92185800-92186200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:92185800-92186200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:92185800-92186200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:92185800-92186200	Enhancers	Colon Smooth Muscle	Colon
49	chr6:92185800-92186200	Enhancers	Small Intestine	intestine
50	chr6:92185800-92186200	Enhancers	NHEK	skin

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