Variant report

Variant	esv3436278
Chromosome Location	chr6:38841674-38842722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188187267	chr6:38841744-38841745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147664774	chr6:38841814-38841815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs386358936	chr6:38841816-38841817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201478372	chr6:38841817-38841818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375242583	chr6:38841839-38841840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111786820	chr6:38841843-38841844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377254876	chr6:38841844-38841845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs66810592	chr6:38841845-38841846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541834450	chr6:38841846-38841847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76378769	chr6:38841848-38841849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71746049	chr6:38841853-38841854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540223822	chr6:38841861-38841862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200351028	chr6:38841877-38841878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367852853	chr6:38841897-38841898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371660123	chr6:38841918-38841919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200418777	chr6:38841957-38841958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201503679	chr6:38841977-38841978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202063752	chr6:38841980-38841981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199774533	chr6:38842024-38842025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148480769	chr6:38842030-38842031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142733552	chr6:38842038-38842039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180911360	chr6:38842084-38842085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151012483	chr6:38842089-38842090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573655926	chr6:38842108-38842109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542390440	chr6:38842123-38842124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562614782	chr6:38842183-38842184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531787359	chr6:38842188-38842189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545201933	chr6:38842245-38842246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71571354	chr6:38842276-38842277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528019959	chr6:38842292-38842293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547385295	chr6:38842331-38842332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560976166	chr6:38842332-38842333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187017007	chr6:38842480-38842481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78092995	chr6:38842488-38842489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570138335	chr6:38842529-38842530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112979289	chr6:38842579-38842580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577948656	chr6:38842603-38842604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113416730	chr6:38842605-38842606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35883575	chr6:38842699-38842700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21510904	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38840200-38843400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:38840200-38845400	Enhancers	Fetal Thymus	thymus
3	chr6:38841000-38843800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr6:38841000-38844000	Weak transcription	Primary T cells from cord blood	blood
5	chr6:38841200-38842200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:38841200-38842200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:38841200-38842200	Weak transcription	Thymus	Thymus
8	chr6:38841200-38842800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:38841200-38843400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:38841200-38843800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:38841200-38843800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:38841400-38842200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:38841400-38843800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:38842200-38842400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:38842200-38842400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:38842200-38844000	Enhancers	Thymus	Thymus
17	chr6:38842200-38845400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:38842200-38845800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:38842400-38842800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:38842400-38843600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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