Variant report

Variant	nsv516115
Chromosome Location	chr6:128828268-128829096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128817873..128822661-chr6:128826854..128830658,5	MCF-7	breast:
2	chr6:128827840..128829694-chr6:128832240..128833795,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224733	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1016015	chr6:128828268-128828269	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189079349	chr6:128828278-128828279	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566074915	chr6:128828327-128828328	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181071291	chr6:128828336-128828337	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184700767	chr6:128828352-128828353	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117776212	chr6:128828372-128828373	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576353468	chr6:128828398-128828399	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78918817	chr6:128828410-128828411	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141450697	chr6:128828469-128828470	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150830868	chr6:128828529-128828530	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188381246	chr6:128828583-128828584	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181201237	chr6:128828597-128828598	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369617263	chr6:128828638-128828639	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553356270	chr6:128828682-128828683	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571667655	chr6:128828805-128828806	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546193723	chr6:128828831-128828832	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564773295	chr6:128828835-128828836	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531886973	chr6:128828869-128828870	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117969176	chr6:128828875-128828876	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369140721	chr6:128828909-128828910	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562256573	chr6:128828981-128828982	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536099120	chr6:128828996-128828997	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529086087	chr6:128829038-128829039	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377718865	chr6:128829039-128829040	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558278800	chr6:128829050-128829051	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6917178	chr6:128829084-128829085	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs6917187	chr6:128829096-128829097	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16272173	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128808800-128830800	Weak transcription	Lung	lung
2	chr6:128813000-128828600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:128815200-128833800	Enhancers	Fetal Intestine Large	intestine
4	chr6:128817200-128828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:128817200-128839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:128817200-128839800	Weak transcription	Aorta	Aorta
7	chr6:128819800-128828600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:128819800-128828600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:128820600-128833800	Enhancers	Fetal Intestine Small	intestine
10	chr6:128820800-128828400	Weak transcription	HSMMtube	muscle
11	chr6:128820800-128828600	Weak transcription	HSMM	muscle
12	chr6:128821600-128836800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:128822000-128828600	Weak transcription	Colonic Mucosa	Colon
14	chr6:128822200-128828600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:128822200-128828600	Weak transcription	Gastric	stomach
16	chr6:128822400-128828600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:128823400-128832800	Enhancers	Stomach Mucosa	stomach
18	chr6:128824400-128828600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr6:128824800-128829400	Enhancers	Fetal Heart	heart
20	chr6:128825000-128829400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:128825400-128828600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:128825600-128828600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:128825800-128828600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:128825800-128828600	Weak transcription	Small Intestine	intestine
25	chr6:128825800-128829800	Enhancers	Brain Hippocampus Middle	brain
26	chr6:128825800-128831200	Weak transcription	Psoas Muscle	Psoas
27	chr6:128825800-128832400	Weak transcription	Fetal Kidney	kidney
28	chr6:128825800-128840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:128826000-128828600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:128826000-128828600	Weak transcription	Ovary	ovary
31	chr6:128826000-128828600	Weak transcription	Pancreas	Pancrea
32	chr6:128826000-128828600	Weak transcription	NH-A	brain
33	chr6:128826000-128830800	Weak transcription	Right Ventricle	heart
34	chr6:128826200-128828600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:128826200-128828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:128826400-128828600	Weak transcription	Right Atrium	heart
37	chr6:128826600-128829200	Enhancers	Brain Angular Gyrus	brain
38	chr6:128826800-128828600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:128826800-128828600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:128826800-128829200	Enhancers	Fetal Lung	lung
41	chr6:128826800-128831000	Weak transcription	Left Ventricle	heart
42	chr6:128827000-128828600	Enhancers	Liver	Liver
43	chr6:128827000-128828600	Enhancers	Duodenum Mucosa	Duodenum
44	chr6:128827200-128828400	Weak transcription	HUVEC	blood vessel
45	chr6:128827200-128828600	Enhancers	Brain Cingulate Gyrus	brain
46	chr6:128827200-128828600	Weak transcription	Fetal Stomach	stomach
47	chr6:128827200-128828600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:128827200-128828600	Enhancers	A549	lung
49	chr6:128827200-128829800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:128827400-128828400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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