Variant report

Variant	esv3513382
Chromosome Location	chr6:161564862-161568560
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161561291..161565490-chr6:161565996..161568943,5	K562	blood:
2	chr6:161411883..161414805-chr6:161562442..161565257,3	K562	blood:
3	chr6:161411612..161414805-chr6:161561243..161565000,4	K562	blood:
4	chr6:161561596..161565261-chr6:161565633..161567932,4	K562	blood:
5	chr6:161551128..161553657-chr6:161566830..161569140,2	K562	blood:
6	chr6:161548242..161551323-chr6:161565381..161568765,4	K562	blood:
7	chr6:161562867..161565022-chr6:161622480..161624483,2	K562	blood:
8	chr6:161564867..161570084-chr6:161571350..161575451,5	K562	blood:
9	chr6:161566087..161569641-chr6:161785856..161789665,3	K562	blood:
10	chr6:161561596..161565261-chr6:161565633..161567932,4	K562	blood:
11	chr6:161563822..161565499-chr6:161639180..161641581,2	K562	blood:
12	chr6:161561291..161565490-chr6:161565996..161568943,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272841	chromatin interactions
ENSG00000085511	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141592474	chr6:161564872-161564873	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs374452981	chr6:161564891-161564892	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570227458	chr6:161564905-161564906	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs143846920	chr6:161564906-161564907	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs375701472	chr6:161565037-161565038	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534688673	chr6:161565057-161565058	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558167736	chr6:161565074-161565075	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs59288364	chr6:161565096-161565097	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369344926	chr6:161565136-161565137	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs373051138	chr6:161565150-161565151	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs184582787	chr6:161565153-161565154	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs12191615	chr6:161565158-161565159	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs118155311	chr6:161565180-161565181	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535308816	chr6:161565186-161565187	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376143516	chr6:161565194-161565195	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115983545	chr6:161565204-161565205	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374367992	chr6:161565224-161565225	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201320578	chr6:161565236-161565237	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138186375	chr6:161565255-161565256	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564128291	chr6:161565273-161565274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189104664	chr6:161565289-161565290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149589276	chr6:161565290-161565291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375250519	chr6:161565304-161565305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59871575	chr6:161565305-161565306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529507628	chr6:161565317-161565318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7757565	chr6:161565383-161565384	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192938423	chr6:161565406-161565407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528602020	chr6:161565427-161565428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7759013	chr6:161565571-161565572	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116181544	chr6:161565575-161565576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527313092	chr6:161565576-161565577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558845835	chr6:161565619-161565620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572363179	chr6:161565626-161565627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549657323	chr6:161565631-161565632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73015431	chr6:161565641-161565642	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535274661	chr6:161565654-161565655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73786009	chr6:161565680-161565681	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368981436	chr6:161565709-161565710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572015439	chr6:161565710-161565711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574873974	chr6:161565714-161565715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369691824	chr6:161565728-161565729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183869109	chr6:161565731-161565732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73595029	chr6:161565732-161565733	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs577188515	chr6:161565734-161565735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377602946	chr6:161565739-161565740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113205450	chr6:161565748-161565749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142645084	chr6:161565752-161565753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563949788	chr6:161565782-161565783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188960378	chr6:161565806-161565807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528350193	chr6:161565881-161565882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161541000-161584600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:161542000-161567200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:161542000-161585600	Weak transcription	Fetal Kidney	kidney
4	chr6:161544600-161589600	Weak transcription	Fetal Brain Male	brain
5	chr6:161545000-161584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:161548400-161590800	Weak transcription	Fetal Thymus	thymus
7	chr6:161549200-161565600	Strong transcription	Brain Germinal Matrix	brain
8	chr6:161549200-161577000	Strong transcription	Fetal Brain Female	brain
9	chr6:161549200-161577400	Strong transcription	Fetal Stomach	stomach
10	chr6:161549800-161589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:161550000-161584600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:161550200-161577400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:161550400-161567000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:161553200-161569600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:161553400-161571800	Weak transcription	HUVEC	blood vessel
16	chr6:161553800-161586600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:161554000-161574000	Weak transcription	Pancreas	Pancrea
18	chr6:161554000-161591000	Weak transcription	Colonic Mucosa	Colon
19	chr6:161555000-161585000	Weak transcription	Right Atrium	heart
20	chr6:161555200-161567000	Weak transcription	Fetal Lung	lung
21	chr6:161555600-161568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:161555800-161586600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:161556200-161565200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:161556200-161566600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:161556600-161567800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:161557600-161567000	Weak transcription	Left Ventricle	heart
27	chr6:161557600-161569200	Weak transcription	Aorta	Aorta
28	chr6:161557600-161574400	Weak transcription	Gastric	stomach
29	chr6:161557600-161581400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:161557800-161584200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr6:161558000-161565000	Weak transcription	Adipose Nuclei	Adipose
32	chr6:161558200-161571400	Weak transcription	Thymus	Thymus
33	chr6:161558200-161571800	Weak transcription	Primary B cells from cord blood	blood
34	chr6:161558200-161577800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:161558200-161582600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:161558200-161589400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:161558400-161581400	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:161558600-161574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:161559000-161566400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:161559400-161568200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:161559400-161587600	Weak transcription	Fetal Intestine Large	intestine
42	chr6:161560000-161583200	Weak transcription	HMEC	breast
43	chr6:161560200-161566200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:161560200-161566600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:161560200-161574800	Weak transcription	Right Ventricle	heart
46	chr6:161560200-161583800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:161560400-161566200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:161560400-161566400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:161560400-161567000	Weak transcription	Brain Angular Gyrus	brain
50	chr6:161560400-161567200	Weak transcription	Brain Cingulate Gyrus	brain

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