Variant report

Variant	esv3323947
Chromosome Location	chr6:167235962-167240360
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:167234510..167236019-chr6:167237889..167239702,2	MCF-7	breast:
2	chr6:166870182..166872414-chr6:167234943..167236564,2	K562	blood:
3	chr6:167234510..167236019-chr6:167237889..167239702,2	MCF-7	breast:
4	chr6:167232177..167234702-chr6:167235338..167237852,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGFR1OP-11	chr6:167237778-167238313	NONHSAT116055
2	lnc-FGFR1OP-11	chr6:167237176-167237266	NONHSAT116055

No data

Extended variants
information (count: 179 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190651486	chr6:167235993-167235994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536510543	chr6:167236074-167236075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16899555	chr6:167236088-167236089	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538853076	chr6:167236139-167236140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184150012	chr6:167236146-167236147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566200841	chr6:167236223-167236224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140027419	chr6:167236243-167236244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1099662	chr6:167236250-167236251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140391861	chr6:167236258-167236259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576143005	chr6:167236269-167236270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535776452	chr6:167236277-167236278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201414034	chr6:167236278-167236279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71979866	chr6:167236285-167236286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76159407	chr6:167236291-167236292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149831301	chr6:167236295-167236296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187875693	chr6:167236395-167236396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114007726	chr6:167236401-167236402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192441231	chr6:167236500-167236501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371792586	chr6:167236518-167236519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573001517	chr6:167236532-167236533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150713433	chr6:167236560-167236561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184487933	chr6:167236563-167236564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533211695	chr6:167236567-167236568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560902534	chr6:167236597-167236598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531310590	chr6:167236621-167236622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1099663	chr6:167236632-167236633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs564820064	chr6:167236656-167236657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555458693	chr6:167236728-167236729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569687071	chr6:167236752-167236753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547627190	chr6:167236774-167236775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531122765	chr6:167236788-167236789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530293835	chr6:167236790-167236791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12211670	chr6:167236919-167236920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374107770	chr6:167236923-167236924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3220459	chr6:167236924-167236925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58335817	chr6:167236926-167236927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57340073	chr6:167236927-167236928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57809208	chr6:167236949-167236950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs66707164	chr6:167236955-167236956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56187218	chr6:167236957-167236958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199784318	chr6:167236962-167236963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569764280	chr6:167236971-167236972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537040471	chr6:167237062-167237063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558638947	chr6:167237152-167237153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570812943	chr6:167237218-167237219	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs538849471	chr6:167237238-167237239	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs55897486	chr6:167237246-167237247	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1099664	chr6:167237294-167237295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187347309	chr6:167237311-167237312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1099665	chr6:167237343-167237344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Autism	22549408	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167221800-167244400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:167235400-167236400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:167235600-167239000	Weak transcription	Brain Anterior Caudate	brain
4	chr6:167238000-167238400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:167238000-167238400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr6:167238200-167238400	Bivalent/Poised TSS	Fetal Brain Male	brain
7	chr6:167238400-167244400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:167238600-167240000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:167239000-167239400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:167239000-167239400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:167239000-167239400	Enhancers	Ovary	ovary
12	chr6:167239000-167239800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:167239000-167241800	Enhancers	Brain Anterior Caudate	brain
14	chr6:167239200-167239400	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:167239200-167240000	Enhancers	Left Ventricle	heart
16	chr6:167239200-167240000	Enhancers	NH-A	brain
17	chr6:167239400-167240000	Enhancers	HSMMtube	muscle
18	chr6:167240000-167240200	Enhancers	Brain Cingulate Gyrus	brain

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