Variant report

Variant	nsv538359
Chromosome Location	chr6:91784557-92075312
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:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:91783283..91785373-chr6:91788770..91790311,2	MCF-7	breast:
2	chr6:91990614..91993212-chr6:91996276..91998724,2	K562	blood:
3	chr6:91790906..91791843-chr6:91985660..91986411,2	MCF-7	breast:
4	chr6:91793633..91795491-chr6:91798341..91801324,2	K562	blood:
5	chr6:91986581..91989347-chr6:91997035..91999767,2	MCF-7	breast:
6	chr6:91864334..91866190-chr6:91869646..91872638,2	K562	blood:
7	chr6:91842487..91844992-chr6:91845822..91848509,2	K562	blood:
8	chr6:91569004..91569554-chr6:91790816..91791615,3	MCF-7	breast:
9	chr6:91790871..91791689-chr6:91984333..91984889,2	MCF-7	breast:
10	chr6:91986581..91989347-chr6:91997035..91999767,2	MCF-7	breast:
11	chr6:91778241..91779921-chr6:91800557..91802726,2	K562	blood:
12	chr6:91793724..91795491-chr6:91797204..91799841,2	K562	blood:
13	chr6:91992230..91994591-chr6:91995419..91998327,2	K562	blood:
14	chr6:91992230..91994591-chr6:91995419..91998327,2	K562	blood:
15	chr6:91790975..91791648-chr6:93353782..93354715,3	MCF-7	breast:
16	chr6:92024328..92026291-chr6:92028411..92031026,2	MCF-7	breast:
17	chr6:91786560..91789337-chr6:91795291..91797567,2	K562	blood:
18	chr6:91864334..91866190-chr6:91869646..91872638,2	K562	blood:
19	chr6:91783283..91785373-chr6:91788770..91790311,2	MCF-7	breast:
20	chr6:91943446..91945195-chr6:91947749..91950694,2	MCF-7	breast:
21	chr6:91786560..91789337-chr6:91795291..91797567,2	K562	blood:
22	chr6:92039620..92040133-chr6:92244085..92244800,2	MCF-7	breast:
23	chr6:91938876..91941308-chr6:91942108..91944508,2	K562	blood:
24	chr6:91776946..91779855-chr6:91787980..91790686,2	K562	blood:
25	chr6:91990614..91993212-chr6:91996276..91998724,2	K562	blood:
26	chr6:91909528..91912295-chr6:91912373..91915298,3	K562	blood:
27	chr6:91790871..91791689-chr6:91984333..91984889,2	MCF-7	breast:
28	chr6:92055587..92058216-chr6:92087583..92089845,2	MCF-7	breast:
29	chr6:91938876..91941308-chr6:91942108..91944508,2	K562	blood:
30	chr6:91980246..91981835-chr6:91983530..91986182,2	MCF-7	breast:
31	chr6:92024328..92026291-chr6:92028411..92031026,2	MCF-7	breast:
32	chr6:91842487..91844992-chr6:91845822..91848509,2	K562	blood:
33	chr6:92039625..92040672-chr6:92243858..92245014,7	MCF-7	breast:
34	chr6:91791393..91793294-chr6:91796040..91797967,2	K562	blood:
35	chr6:92025048..92027862-chr6:92036199..92038247,2	K562	blood:
36	chr6:91791393..91793294-chr6:91796040..91797967,2	K562	blood:
37	chr6:91776668..91779603-chr6:91785078..91787430,2	K562	blood:
38	chr6:92039721..92040294-chr6:93354118..93354772,2	MCF-7	breast:
39	chr6:91790906..91791843-chr6:91985660..91986411,2	MCF-7	breast:
40	chr6:92025048..92027862-chr6:92036199..92038247,2	K562	blood:
41	chr6:91943446..91945195-chr6:91947749..91950694,2	MCF-7	breast:
42	chr6:91909528..91912295-chr6:91912373..91915298,3	K562	blood:
43	chr6:91980246..91981835-chr6:91983530..91986182,2	MCF-7	breast:
44	chr6:91793724..91795491-chr6:91797204..91799841,2	K562	blood:
45	chr6:91793633..91795491-chr6:91798341..91801324,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265419	chromatin interactions

Extended variants
information (count: 6147 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:6147 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542571232	chr6:91784585-91784586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140700392	chr6:91784617-91784618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559631046	chr6:91784648-91784649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577773495	chr6:91784656-91784657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149703061	chr6:91784666-91784667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145503402	chr6:91784677-91784678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544649157	chr6:91784716-91784717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564599893	chr6:91784722-91784723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375439884	chr6:91784815-91784816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11962583	chr6:91784822-91784823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185474301	chr6:91784826-91784827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190828188	chr6:91784827-91784828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545685590	chr6:91784895-91784896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565486807	chr6:91784907-91784908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527877108	chr6:91784944-91784945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541297364	chr6:91784951-91784952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115117597	chr6:91784957-91784958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181695926	chr6:91784969-91784970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548538018	chr6:91785172-91785173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568524521	chr6:91785196-91785197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148883806	chr6:91785203-91785204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9345086	chr6:91785298-91785299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551652598	chr6:91785317-91785318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571482911	chr6:91785398-91785399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533963452	chr6:91785487-91785488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553703934	chr6:91785606-91785607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567726115	chr6:91785610-91785611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536753109	chr6:91785645-91785646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556549030	chr6:91785722-91785723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576502291	chr6:91785769-91785770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35253264	chr6:91785774-91785775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4607406	chr6:91785786-91785787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545112713	chr6:91785825-91785826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559188713	chr6:91785875-91785876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184381055	chr6:91785880-91785881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6924218	chr6:91785900-91785901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6924814	chr6:91785987-91785988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528917613	chr6:91786021-91786022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4492171	chr6:91786031-91786032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs58393286	chr6:91786076-91786077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375398587	chr6:91786083-91786084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4588656	chr6:91786096-91786097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9451570	chr6:91786112-91786113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189093890	chr6:91786148-91786149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145474391	chr6:91786176-91786177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377584297	chr6:91786188-91786189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137986190	chr6:91786214-91786215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538646802	chr6:91786259-91786260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567471960	chr6:91786273-91786274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181172536	chr6:91786326-91786327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
small cell lung cancer	20016488	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
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	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
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:659 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:91781200-91789600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:91784200-91785400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:91789600-91790400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:91789600-91791200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:91789600-91792400	Enhancers	Fetal Stomach	stomach
6	chr6:91789800-91790000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:91789800-91790000	Enhancers	NH-A	brain
8	chr6:91789800-91792400	Enhancers	Brain Germinal Matrix	brain
9	chr6:91789800-91793400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:91790000-91791400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:91790000-91791400	Weak transcription	NH-A	brain
12	chr6:91790200-91791400	Enhancers	Fetal Intestine Small	intestine
13	chr6:91790400-91790800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:91790400-91790800	Enhancers	Fetal Intestine Large	intestine
15	chr6:91790400-91791200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:91790800-91791000	Weak transcription	Fetal Intestine Large	intestine
17	chr6:91790800-91793200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:91791000-91791200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:91791000-91791600	Enhancers	Fetal Kidney	kidney
20	chr6:91791000-91792400	Enhancers	Fetal Brain Male	brain
21	chr6:91791000-91792600	Enhancers	Fetal Intestine Large	intestine
22	chr6:91791000-91793600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:91791200-91791600	Enhancers	Brain Substantia Nigra	brain
24	chr6:91791200-91792000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:91791200-91792200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:91791200-91792200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:91791200-91792200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:91791200-91792800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr6:91791200-91793400	Enhancers	Fetal Lung	lung
30	chr6:91791400-91791600	Enhancers	Brain Cingulate Gyrus	brain
31	chr6:91791400-91791600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr6:91791400-91791800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr6:91791400-91792000	Weak transcription	Fetal Intestine Small	intestine
34	chr6:91791400-91792600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:91791400-91792600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:91791400-91793400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:91791400-91793400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:91791400-91793400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:91791400-91793400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:91791400-91793400	Enhancers	NH-A	brain
41	chr6:91791400-91793800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:91791400-91793800	Enhancers	Ovary	ovary
43	chr6:91791600-91792200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:91791600-91792400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:91791600-91793400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:91791600-91793400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:91791600-91793600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:91791600-91793600	Enhancers	HSMM	muscle
49	chr6:91791600-91797600	Weak transcription	Fetal Kidney	kidney
50	chr6:91791800-91793200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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