Variant report

Variant	nsv5261
Chromosome Location	chr6:36754545-36798824
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:75)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:36185667..36187544-chr6:36788292..36790992,2	K562	blood:
2	chr6:36778233..36779348-chr6:36818667..36819792,5	MCF-7	breast:
3	chr6:36764697..36766707-chr6:36770916..36775341,3	K562	blood:
4	chr6:36792218..36793903-chr6:36839226..36841324,2	K562	blood:
5	chr6:36731113..36733577-chr6:36757707..36759344,2	MCF-7	breast:
6	chr6:36765342..36766901-chr6:36767823..36770309,2	K562	blood:
7	chr6:36780886..36783588-chr6:36791305..36793115,2	K562	blood:
8	chr6:36795450..36797184-chr6:36798475..36800268,2	MCF-7	breast:
9	chr6:36767816..36770525-chr6:36771116..36773895,3	K562	blood:
10	chr6:36794979..36796750-chr6:36806807..36808819,2	K562	blood:
11	chr6:36785208..36787449-chr6:36793356..36796337,2	K562	blood:
12	chr6:36752024..36754549-chr6:36841699..36843856,2	MCF-7	breast:
13	chr6:36773141..36775205-chr6:36779352..36780947,2	MCF-7	breast:
14	chr6:36762637..36765531-chr6:36766725..36768709,2	MCF-7	breast:
15	chr6:36795234..36797828-chr6:36799282..36801814,2	MCF-7	breast:
16	chr6:36769700..36771863-chr6:36773120..36775823,2	MCF-7	breast:
17	chr6:36773141..36775205-chr6:36779352..36780947,2	MCF-7	breast:
18	chr6:36792882..36794850-chr6:36817375..36819702,2	MCF-7	breast:
19	chr6:36794334..36796730-chr6:36804291..36808430,4	K562	blood:
20	chr6:36763716..36766678-chr6:36824320..36826178,2	K562	blood:
21	chr6:36773345..36776524-chr6:36783780..36787443,3	K562	blood:
22	chr6:36764128..36766707-chr6:36770890..36775341,3	K562	blood:
23	chr6:36769700..36771863-chr6:36773120..36775823,2	MCF-7	breast:
24	chr6:36746005..36749095-chr6:36753090..36757403,5	K562	blood:
25	chr6:36789119..36791202-chr6:36794316..36796954,2	MCF-7	breast:
26	chr6:36780886..36783588-chr6:36791305..36793115,2	K562	blood:
27	chr6:36798286..36801016-chr6:36828535..36830113,2	MCF-7	breast:
28	chr6:36735205..36738039-chr6:36795328..36797807,2	K562	blood:
29	chr6:36753279..36755251-chr6:36760593..36763475,2	MCF-7	breast:
30	chr6:36780252..36782368-chr6:36952870..36954996,2	MCF-7	breast:
31	chr6:36735042..36738016-chr6:36756015..36758776,2	K562	blood:
32	chr6:36776424..36778095-chr6:36781700..36783486,2	K562	blood:
33	chr6:36770535..36772762-chr6:36802560..36804403,2	MCF-7	breast:
34	chr6:36787597..36789136-chr6:36828345..36830659,2	K562	blood:
35	chr6:36760519..36762728-chr6:36768934..36770860,2	K562	blood:
36	chr6:36759502..36762298-chr6:36813036..36815404,2	K562	blood:
37	chr6:36776424..36778095-chr6:36781700..36783486,2	K562	blood:
38	chr6:36773345..36779007-chr6:36781700..36788311,6	K562	blood:
39	chr6:36773345..36776524-chr6:36783780..36787443,3	K562	blood:
40	chr6:36789119..36791202-chr6:36794316..36796954,2	MCF-7	breast:
41	chr6:36646394..36648930-chr6:36762384..36763914,2	MCF-7	breast:
42	chr6:36769485..36774936-chr6:36775864..36780694,5	K562	blood:
43	chr6:36762637..36765531-chr6:36766725..36768709,2	MCF-7	breast:
44	chr6:36795450..36797184-chr6:36798475..36800268,2	MCF-7	breast:
45	chr6:36777747..36780393-chr6:36794218..36796370,2	K562	blood:
46	chr6:36794960..36797017-chr6:36818260..36820420,2	MCF-7	breast:
47	chr6:36779359..36780999-chr6:36789470..36790990,2	K562	blood:
48	chr6:36781566..36783214-chr6:36785141..36787626,2	MCF-7	breast:
49	chr6:36758069..36759935-chr6:36761905..36763560,2	K562	blood:
50	chr6:36762586..36765168-chr6:36769064..36771105,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112081	chromatin interactions
ENSG00000198663	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000124762	chromatin interactions
ENSG00000124772	chromatin interactions
ENSG00000137168	chromatin interactions

Extended variants
information (count: 1862 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1862 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186310623	chr6:36754559-36754560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192068576	chr6:36754574-36754575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117067728	chr6:36754607-36754608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12203412	chr6:36754609-36754610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576121739	chr6:36754620-36754621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537011041	chr6:36754656-36754657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs72856422	chr6:36754662-36754663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139299743	chr6:36754703-36754704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369526347	chr6:36754704-36754705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545317810	chr6:36754712-36754713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183431419	chr6:36754748-36754749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572238093	chr6:36754814-36754815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149994246	chr6:36754824-36754825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561005257	chr6:36754847-36754848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531608814	chr6:36754875-36754876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs16889134	chr6:36754897-36754898	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565070110	chr6:36754924-36754925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76659690	chr6:36754935-36754936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs79901510	chr6:36754991-36754992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78861911	chr6:36754999-36755000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574834056	chr6:36755031-36755032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369914984	chr6:36755052-36755053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529879802	chr6:36755085-36755086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115917261	chr6:36755087-36755088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544068711	chr6:36755124-36755125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs142318211	chr6:36755201-36755202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs236411	chr6:36755220-36755221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146907270	chr6:36755224-36755225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111337012	chr6:36755258-36755259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147949131	chr6:36755261-36755262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539300252	chr6:36755262-36755263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35484610	chr6:36755287-36755288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187224649	chr6:36755291-36755292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559961520	chr6:36755299-36755300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569458024	chr6:36755318-36755319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536366147	chr6:36755336-36755337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554018352	chr6:36755373-36755374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs236410	chr6:36755402-36755403	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116698615	chr6:36755506-36755507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114386274	chr6:36755507-36755508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368989309	chr6:36755514-36755515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543484142	chr6:36755605-36755606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565260848	chr6:36755667-36755668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9380602	chr6:36755668-36755669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192603627	chr6:36755683-36755684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183173277	chr6:36755797-36755798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529918771	chr6:36755815-36755816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548403423	chr6:36755823-36755824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs80244477	chr6:36755825-36755826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78423000	chr6:36755828-36755829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36746000-36756600	Weak transcription	Fetal Brain Male	brain
2	chr6:36746600-36756400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:36747000-36755800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:36747200-36756200	Weak transcription	Brain Anterior Caudate	brain
5	chr6:36748600-36756200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:36748600-36756400	Weak transcription	Fetal Kidney	kidney
7	chr6:36749600-36756800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:36749800-36756200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:36752600-36768400	Weak transcription	Right Atrium	heart
10	chr6:36752800-36754800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:36753000-36754600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:36753000-36756200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:36754200-36756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:36754200-36756200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:36754200-36756200	Weak transcription	Brain Angular Gyrus	brain
16	chr6:36754200-36756200	Weak transcription	Osteobl	bone
17	chr6:36754200-36756400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:36754400-36755600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:36754400-36756200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:36754400-36756400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:36754400-36756600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:36754400-36756600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:36754600-36756400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:36754800-36756400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:36755000-36755200	Enhancers	Ovary	ovary
26	chr6:36755600-36757800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:36755800-36757600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:36756000-36756200	Enhancers	Brain Germinal Matrix	brain
29	chr6:36756000-36757200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr6:36756000-36757200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:36756000-36757600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:36756000-36757600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:36756000-36758200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:36756200-36756400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:36756200-36756400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:36756200-36756400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr6:36756200-36756400	Bivalent Enhancer	HepG2	liver
38	chr6:36756200-36757000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:36756200-36757000	Enhancers	Osteobl	bone
40	chr6:36756200-36757200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:36756200-36757200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:36756200-36757200	Enhancers	Brain Angular Gyrus	brain
43	chr6:36756200-36757200	Enhancers	Brain Anterior Caudate	brain
44	chr6:36756200-36757400	Enhancers	Brain Hippocampus Middle	brain
45	chr6:36756200-36757600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:36756200-36757600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr6:36756200-36757800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:36756200-36757800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:36756200-36757800	Enhancers	Brain Cingulate Gyrus	brain
50	chr6:36756200-36759200	Weak transcription	Brain Germinal Matrix	brain

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