Variant report

Variant	nsv1020961
Chromosome Location	chr6:54101801-54133709
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:54108891..54109489-chr6:54132720..54133570,3	MCF-7	breast:
2	chr17:56708364..56710438-chr6:54107125..54109891,2	MCF-7	breast:
3	chr6:53850945..53851819-chr6:54131033..54131552,2	MCF-7	breast:
4	chr6:54108947..54109656-chr6:54132424..54133064,2	MCF-7	breast:
5	chr6:54108947..54109656-chr6:54132424..54133064,2	MCF-7	breast:
6	chr6:53850715..53851537-chr6:54132516..54133234,3	MCF-7	breast:
7	chr6:53844122..53844911-chr6:54132533..54133159,2	MCF-7	breast:
8	chr6:54108891..54109489-chr6:54132720..54133570,3	MCF-7	breast:
9	chr6:53850708..53851695-chr6:54108679..54109745,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 1320 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1320 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551771350	chr6:54101824-54101825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141364159	chr6:54101936-54101937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61096106	chr6:54101952-54101953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs77124958	chr6:54102054-54102055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530958323	chr6:54102069-54102070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59832538	chr6:54102124-54102125	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535922028	chr6:54102125-54102126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553077585	chr6:54102163-54102164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572738909	chr6:54102187-54102188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59405976	chr6:54102206-54102207	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565152942	chr6:54102214-54102215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575581657	chr6:54102254-54102255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527992591	chr6:54102322-54102323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190247935	chr6:54102335-54102336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561024122	chr6:54102354-54102355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10456171	chr6:54102429-54102430	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567678171	chr6:54102436-54102437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549202138	chr6:54102452-54102453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10456172	chr6:54102457-54102458	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572232087	chr6:54102477-54102478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79850504	chr6:54102479-54102480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62397399	chr6:54102500-54102501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528453374	chr6:54102517-54102518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551336406	chr6:54102534-54102535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550034244	chr6:54102618-54102619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569818488	chr6:54102657-54102658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529061124	chr6:54102658-54102659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182814762	chr6:54102707-54102708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550867604	chr6:54102715-54102716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9474770	chr6:54102722-54102723	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370262067	chr6:54102726-54102727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538497112	chr6:54102789-54102790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192160780	chr6:54102807-54102808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371781964	chr6:54102827-54102828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549298858	chr6:54102888-54102889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552774363	chr6:54102897-54102898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185402899	chr6:54102931-54102932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201869537	chr6:54102937-54102938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372687297	chr6:54102938-54102939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566586606	chr6:54102939-54102940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538376379	chr6:54102989-54102990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189244379	chr6:54102999-54103000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79617515	chr6:54103045-54103046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544470768	chr6:54103059-54103060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554944935	chr6:54103094-54103095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564061714	chr6:54103166-54103167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59943560	chr6:54103260-54103261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540450683	chr6:54103283-54103284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139183846	chr6:54103295-54103296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576779683	chr6:54103337-54103338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54097200-54103400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:54100400-54103000	Weak transcription	Fetal Heart	heart
3	chr6:54101000-54102200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:54101000-54102600	Enhancers	Left Ventricle	heart
5	chr6:54101000-54119800	Weak transcription	Right Ventricle	heart
6	chr6:54101400-54120800	Weak transcription	Psoas Muscle	Psoas
7	chr6:54101600-54102400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:54101800-54102000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:54101800-54102000	Enhancers	HSMM	muscle
10	chr6:54101800-54102200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:54101800-54102200	Enhancers	Hela-S3	cervix
12	chr6:54101800-54102200	Enhancers	HMEC	breast
13	chr6:54101800-54102200	Enhancers	HSMMtube	muscle
14	chr6:54101800-54102600	Enhancers	Pancreas	Pancrea
15	chr6:54102000-54102200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:54102000-54104200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:54102200-54103200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:54102200-54119800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:54102400-54102800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:54102600-54103200	Enhancers	Fetal Brain Male	brain
21	chr6:54102600-54108400	Weak transcription	Left Ventricle	heart
22	chr6:54102800-54104000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr6:54103000-54103400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:54103000-54104000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:54103000-54104000	Enhancers	Adipose Nuclei	Adipose
26	chr6:54103000-54104000	Enhancers	Colon Smooth Muscle	Colon
27	chr6:54103000-54104000	Enhancers	Fetal Heart	heart
28	chr6:54103000-54104000	Enhancers	Fetal Lung	lung
29	chr6:54103000-54104000	Enhancers	NHDF-Ad	bronchial
30	chr6:54103200-54103600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:54103200-54103800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:54103200-54103800	Enhancers	HUVEC	blood vessel
33	chr6:54103200-54104000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:54103200-54104000	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:54103400-54104000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:54103400-54104200	Enhancers	Fetal Muscle Leg	muscle
37	chr6:54103600-54104000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:54104000-54107000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:54104000-54108600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:54104000-54108600	Weak transcription	Fetal Heart	heart
41	chr6:54104000-54108800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:54104000-54119800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:54104200-54110200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:54104200-54120800	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:54107000-54107200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:54107200-54107600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:54107600-54108800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr6:54108400-54108800	Enhancers	Left Ventricle	heart
49	chr6:54108600-54109000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:54108600-54109000	Enhancers	Fetal Heart	heart

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