Variant report

Variant	esv3333863
Chromosome Location	chr6:117935959-117940757
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	chr6:117922411..117925428-chr6:117932859..117936021,3	K562	blood:

Variant related genes	Relation type
ENSG00000047932	chromatin interactions

Extended variants
information (count: 205 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:205 , 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	rs150492869	chr6:117936001-117936002	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138536362	chr6:117936019-117936020	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555497822	chr6:117936053-117936054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538527012	chr6:117936064-117936065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369000488	chr6:117936214-117936215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572428973	chr6:117936231-117936232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556848168	chr6:117936254-117936255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192761193	chr6:117936279-117936280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575664678	chr6:117936291-117936292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144045228	chr6:117936293-117936294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147286164	chr6:117936346-117936347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59939954	chr6:117936425-117936426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139567307	chr6:117936524-117936525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560937665	chr6:117936543-117936544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576063058	chr6:117936565-117936566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11966324	chr6:117936607-117936608	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182380935	chr6:117936648-117936649	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577353551	chr6:117936701-117936702	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565158395	chr6:117936740-117936741	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532320685	chr6:117936744-117936745	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547528737	chr6:117936750-117936751	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545702065	chr6:117936788-117936789	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559590427	chr6:117936819-117936820	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs80005266	chr6:117936823-117936824	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529809333	chr6:117936881-117936882	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs187162896	chr6:117936895-117936896	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569650229	chr6:117936982-117936983	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537069523	chr6:117936983-117936984	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148619042	chr6:117937005-117937006	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571872289	chr6:117937070-117937071	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563804447	chr6:117937088-117937089	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142052816	chr6:117937094-117937095	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541306643	chr6:117937109-117937110	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559751406	chr6:117937118-117937119	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369933464	chr6:117937130-117937131	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536332327	chr6:117937133-117937134	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554672487	chr6:117937134-117937135	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146284854	chr6:117937155-117937156	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73766257	chr6:117937184-117937185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565143541	chr6:117937185-117937186	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376281931	chr6:117937189-117937190	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577018783	chr6:117937190-117937191	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368142163	chr6:117937200-117937201	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541011638	chr6:117937213-117937214	Active TSS Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575101732	chr6:117937253-117937254	Active TSS Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs559575299	chr6:117937279-117937280	Active TSS Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529947587	chr6:117937285-117937286	Active TSS Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541921676	chr6:117937298-117937299	Active TSS Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs563341543	chr6:117937305-117937306	Active TSS Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541825887	chr6:117937368-117937369	Active TSS Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117929400-117938600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:117931600-117937000	Weak transcription	Placenta	Placenta
3	chr6:117931800-117937000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:117933200-117936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:117934200-117938600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:117934400-117936000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:117934400-117936800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:117934400-117937000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:117934600-117936000	Enhancers	Primary T cells from cord blood	blood
10	chr6:117934600-117936000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr6:117934600-117936000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:117934600-117936000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:117934600-117936000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:117934600-117936600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:117934800-117936200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:117934800-117936200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr6:117934800-117936600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:117934800-117936800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:117934800-117937400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:117935000-117936000	Enhancers	Dnd41	blood
21	chr6:117935200-117936600	Weak transcription	NH-A	brain
22	chr6:117935400-117936600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:117935400-117937000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:117935400-117937000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:117935400-117937000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:117935600-117936600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:117935600-117936800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:117935600-117936800	Weak transcription	Osteobl	bone
29	chr6:117935600-117937200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:117935800-117936600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:117935800-117936800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:117935800-117937200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:117936000-117937200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:117936200-117936800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr6:117936200-117938400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:117936600-117936800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:117936600-117936800	Weak transcription	GM12878-XiMat	blood
38	chr6:117936600-117937000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr6:117936600-117937000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr6:117936600-117937000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr6:117936600-117937000	Enhancers	NH-A	brain
42	chr6:117936600-117937200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:117936600-117937200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:117936800-117937000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr6:117936800-117937000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:117936800-117937000	Active TSS	Osteobl	bone
47	chr6:117936800-117937200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:117936800-117937200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr6:117936800-117937200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr6:117937000-117937200	Active TSS	H1 Cell Line	embryonic stem cell

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