Variant report

Variant	esv3382742
Chromosome Location	chr6:29060373-29063271
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:2)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29059208..29061169-chr6:29175130..29176997,2	K562	blood:
2	chr6:29056301..29058599-chr6:29061658..29063799,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2J1-1	chr6:29061574-29061640	l_3153_chr6:29061573-29062620_thyroid
2	lnc-OR2J1-1	chr6:29062431-29062620	l_3153_chr6:29061573-29062620_thyroid
3	lnc-OR2J1-1	chr6:29061959-29061988	NONHSAT108509
4	lnc-OR2J1-1	chr6:29062069-29062239	l_3153_chr6:29061573-29062620_thyroid
5	lnc-OR2J1-1	chr6:29062069-29062262	NONHSAT108509
6	lnc-OR2J1-1	chr6:29062556-29062635	NONHSAT108510
7	lnc-OR2J1-1	chr6:29062433-29063240	NONHSAT108509
8	lnc-OR2J1-1	chr6:29061798-29061988	l_3153_chr6:29061573-29062620_thyroid

No data

Extended variants
information (count: 58 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376417884	chr6:29061045-29061046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563315431	chr6:29061154-29061155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529140567	chr6:29061259-29061260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192985313	chr6:29061268-29061269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373586522	chr6:29061313-29061314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543340761	chr6:29061365-29061366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559775997	chr6:29061386-29061387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528732219	chr6:29061393-29061394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551676522	chr6:29061437-29061438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184087786	chr6:29061513-29061514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368886456	chr6:29061589-29061590	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs530570964	chr6:29061601-29061602	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs9461503	chr6:29061630-29061631	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143572615	chr6:29061631-29061632	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs201669695	chr6:29061691-29061692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199780582	chr6:29061692-29061693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536236332	chr6:29061694-29061695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553259516	chr6:29061706-29061707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570307351	chr6:29061707-29061708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12215317	chr6:29061708-29061709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547322920	chr6:29061712-29061713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538866658	chr6:29061737-29061738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558426459	chr6:29061766-29061767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188376626	chr6:29061854-29061855	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527582657	chr6:29061902-29061903	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs537077711	chr6:29061911-29061912	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs543477171	chr6:29061937-29061938	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs12662229	chr6:29061974-29061975	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs562347943	chr6:29061982-29061983	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs180742303	chr6:29062046-29062047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114136937	chr6:29062079-29062080	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs576878919	chr6:29062117-29062118	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs184951744	chr6:29062125-29062126	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs9393942	chr6:29062170-29062171	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190448064	chr6:29062193-29062194	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs12665108	chr6:29062194-29062195	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145181611	chr6:29062292-29062293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182059737	chr6:29062354-29062355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563460303	chr6:29062369-29062370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187109393	chr6:29062431-29062432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs115166140	chr6:29062551-29062552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs113999794	chr6:29062595-29062596	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs145725017	chr6:29062690-29062691	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs560942459	chr6:29062704-29062705	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs189897450	chr6:29062744-29062745	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs546268676	chr6:29062808-29062809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs56085730	chr6:29062844-29062845	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115341866	chr6:29062914-29062915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs552364978	chr6:29062958-29062959	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs148534024	chr6:29062965-29062966	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29061000-29062400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:29061200-29061600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:29061200-29062000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:29061400-29062200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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