Variant report

Variant	nsv966632
Chromosome Location	chr6:71138127-71144459
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:71139434..71142286-chr6:71311712..71314259,2	K562	blood:
2	chr6:71135009..71137971-chr6:71140513..71142293,2	MCF-7	breast:
3	chr6:71103303..71106038-chr6:71138215..71140501,3	K562	blood:
4	chr6:71103368..71104951-chr6:71143923..71146585,2	K562	blood:
5	chr6:71136831..71139048-chr6:71141415..71143489,2	K562	blood:
6	chr6:71124304..71127222-chr6:71142586..71144207,2	K562	blood:
7	chr6:71131687..71133716-chr6:71141199..71143015,2	K562	blood:
8	chr6:71132216..71135459-chr6:71141199..71145910,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237643	chromatin interactions
ENSG00000082269	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375383555	chr6:71138146-71138147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368493109	chr6:71138154-71138155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201422912	chr6:71138159-71138160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562229216	chr6:71138175-71138176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187590409	chr6:71138203-71138204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544624105	chr6:71138205-71138206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529204335	chr6:71138222-71138223	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191525019	chr6:71138246-71138247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75679800	chr6:71138254-71138255	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373613591	chr6:71138256-71138257	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546964427	chr6:71138289-71138290	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs3736751	chr6:71138328-71138329	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543797897	chr6:71138360-71138361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs137925216	chr6:71138383-71138384	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182157981	chr6:71138406-71138407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568955850	chr6:71138471-71138472	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577263317	chr6:71138543-71138544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199739314	chr6:71138582-71138583	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200642126	chr6:71138583-71138584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140940311	chr6:71138589-71138590	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570949269	chr6:71138608-71138609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533538261	chr6:71138618-71138619	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553655659	chr6:71138624-71138625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572302683	chr6:71138634-71138635	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573426561	chr6:71138680-71138681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542433192	chr6:71138697-71138698	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186346569	chr6:71138699-71138700	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77468752	chr6:71138704-71138705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72917936	chr6:71138744-71138745	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144771322	chr6:71138781-71138782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534842397	chr6:71138822-71138823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546187729	chr6:71138840-71138841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529559992	chr6:71138841-71138842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547903156	chr6:71138874-71138875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540249712	chr6:71138906-71138907	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560410329	chr6:71138930-71138931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138723782	chr6:71138939-71138940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141261530	chr6:71138947-71138948	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556545134	chr6:71138987-71138988	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562500548	chr6:71139062-71139063	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190266051	chr6:71139073-71139074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551106573	chr6:71139083-71139084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570986225	chr6:71139165-71139166	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150787723	chr6:71139167-71139168	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182113426	chr6:71139170-71139171	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567159730	chr6:71139173-71139174	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200824439	chr6:71139184-71139185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370914528	chr6:71139185-71139186	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535736650	chr6:71139203-71139204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551723642	chr6:71139221-71139222	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71124000-71157600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:71124200-71141000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:71124200-71141600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:71124200-71143800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:71124200-71154800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:71124200-71157800	Weak transcription	Spleen	Spleen
7	chr6:71124200-71159800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:71124400-71138400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:71124400-71139000	Weak transcription	Liver	Liver
10	chr6:71124400-71140400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:71124400-71143000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:71124400-71143200	Weak transcription	Psoas Muscle	Psoas
13	chr6:71124400-71148800	Weak transcription	NHLF	lung
14	chr6:71124400-71152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:71124400-71159800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:71124400-71160400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:71124400-71192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:71124600-71139600	Weak transcription	Ovary	ovary
19	chr6:71124600-71140200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:71124600-71140600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:71124600-71141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:71124600-71142600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:71124600-71142800	Weak transcription	NHDF-Ad	bronchial
24	chr6:71124600-71145000	Weak transcription	HUVEC	blood vessel
25	chr6:71124600-71157200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:71124600-71157800	Weak transcription	Colonic Mucosa	Colon
27	chr6:71125000-71139400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:71125000-71140000	Weak transcription	Fetal Brain Female	brain
29	chr6:71125000-71145000	Weak transcription	Fetal Thymus	thymus
30	chr6:71125000-71147400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:71125000-71148400	Weak transcription	Brain Germinal Matrix	brain
32	chr6:71125000-71148800	Weak transcription	Fetal Brain Male	brain
33	chr6:71125200-71140000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr6:71125200-71140200	Weak transcription	Brain Anterior Caudate	brain
35	chr6:71125200-71142200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:71125400-71188800	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:71125400-71188800	Weak transcription	HSMM	muscle
38	chr6:71125600-71143000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr6:71125600-71162400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:71126000-71157800	Weak transcription	Dnd41	blood
41	chr6:71128600-71156800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:71128800-71138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:71128800-71139000	Weak transcription	Adipose Nuclei	Adipose
44	chr6:71128800-71140000	Weak transcription	Gastric	stomach
45	chr6:71128800-71140000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:71128800-71140600	Weak transcription	Esophagus	oesophagus
47	chr6:71128800-71140800	Weak transcription	Aorta	Aorta
48	chr6:71128800-71154800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:71128800-71157800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:71129000-71138800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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