Variant report

Variant	esv7449
Chromosome Location	chr6:119417257-119418102
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	chr6:119417250..119418843-chr6:119419120..119421662,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77116125	chr6:119417277-119417278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538316402	chr6:119417301-119417302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373175514	chr6:119417315-119417316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9401121	chr6:119417329-119417330	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs562611933	chr6:119417333-119417334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189281273	chr6:119417350-119417351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541343374	chr6:119417377-119417378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554563713	chr6:119417406-119417407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9374779	chr6:119417418-119417419	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs531429415	chr6:119417425-119417426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543847515	chr6:119417437-119417438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79184901	chr6:119417459-119417460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201418013	chr6:119417520-119417521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141842608	chr6:119417521-119417522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200508017	chr6:119417522-119417523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201741937	chr6:119417524-119417525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532676403	chr6:119417527-119417528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545943594	chr6:119417572-119417573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559932638	chr6:119417597-119417598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12192417	chr6:119417655-119417656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375192950	chr6:119417657-119417658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569209225	chr6:119417663-119417664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368523296	chr6:119417726-119417727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372537865	chr6:119417730-119417731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531072097	chr6:119417749-119417750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112879499	chr6:119417763-119417764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572708361	chr6:119417771-119417772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569272427	chr6:119417781-119417782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9489590	chr6:119417803-119417804	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112661359	chr6:119417828-119417829	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9398501	chr6:119417831-119417832	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117814611	chr6:119417869-119417870	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538757110	chr6:119417878-119417879	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75252475	chr6:119417882-119417883	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565911841	chr6:119417961-119417962	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139608486	chr6:119417976-119417977	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35131130	chr6:119418024-119418025	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555217398	chr6:119418036-119418037	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554707673	chr6:119418061-119418062	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574786743	chr6:119418067-119418068	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143409480	chr6:119418102-119418103	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	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
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119415600-119418000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:119416800-119418000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:119417000-119417800	Enhancers	Adipose Nuclei	Adipose
4	chr6:119417000-119417800	Enhancers	Fetal Lung	lung
5	chr6:119417000-119417800	Enhancers	Rectal Smooth Muscle	rectum
6	chr6:119417000-119418200	Weak transcription	Placenta	Placenta
7	chr6:119417000-119419000	Enhancers	Primary T cells from cord blood	blood
8	chr6:119417000-119419200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:119417200-119417600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:119417200-119417600	Enhancers	Fetal Intestine Small	intestine
11	chr6:119417200-119418000	Enhancers	Colon Smooth Muscle	Colon
12	chr6:119417200-119418400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr6:119417200-119418600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:119417200-119418600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr6:119417200-119418600	Enhancers	NHEK	skin
16	chr6:119417200-119419000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr6:119417200-119419000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:119417800-119418000	Flanking Active TSS	Fetal Lung	lung
19	chr6:119417800-119418200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:119417800-119418200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:119417800-119418200	Enhancers	Psoas Muscle	Psoas
22	chr6:119417800-119418200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr6:119417800-119418200	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr6:119417800-119418200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:119417800-119418400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:119417800-119418400	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:119417800-119418400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr6:119417800-119418400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:119417800-119418400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr6:119417800-119418400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr6:119417800-119418600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:119417800-119418600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:119417800-119418600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:119417800-119418600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:119417800-119418600	Enhancers	Brain Hippocampus Middle	brain
36	chr6:119417800-119418600	Enhancers	HMEC	breast
37	chr6:119417800-119419000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:119418000-119418200	Enhancers	Brain Anterior Caudate	brain
39	chr6:119418000-119418200	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr6:119418000-119418200	Enhancers	Fetal Lung	lung
41	chr6:119418000-119418400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:119418000-119418400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:119418000-119418400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr6:119418000-119418400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr6:119418000-119418400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:119418000-119418400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:119418000-119418400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:119418000-119418400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:119418000-119418400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr6:119418000-119418600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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