Variant report

Variant	esv3384988
Chromosome Location	chr6:44840124-44845422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375769642	chr6:44840137-44840138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1293587	chr6:44840235-44840236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372949860	chr6:44840236-44840237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562584404	chr6:44840246-44840247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574131560	chr6:44840274-44840275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541416828	chr6:44840279-44840280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560017600	chr6:44840285-44840286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527539226	chr6:44840308-44840309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527396489	chr6:44840314-44840315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552362596	chr6:44840334-44840335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150300067	chr6:44840339-44840340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370656381	chr6:44840340-44840341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531510663	chr6:44840351-44840352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550040516	chr6:44840354-44840355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1293588	chr6:44840376-44840377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376879790	chr6:44840443-44840444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371564982	chr6:44840497-44840498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568556445	chr6:44840547-44840548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535897004	chr6:44840613-44840614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373632245	chr6:44840651-44840652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528209120	chr6:44840653-44840654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201114417	chr6:44840699-44840700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1293589	chr6:44840722-44840723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367802533	chr6:44840744-44840745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372048363	chr6:44840882-44840883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375058469	chr6:44840969-44840970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368024144	chr6:44840979-44840980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200482350	chr6:44841225-44841226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9395052	chr6:44841230-44841231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574189072	chr6:44841531-44841532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544568847	chr6:44841544-44841545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371897987	chr6:44841614-44841615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578247636	chr6:44841649-44841650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1293590	chr6:44841673-44841674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12525691	chr6:44841845-44841846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200237552	chr6:44842039-44842040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547768338	chr6:44842115-44842116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1293591	chr6:44842122-44842123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376556132	chr6:44842321-44842322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550048738	chr6:44842361-44842362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569774873	chr6:44842385-44842386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369836335	chr6:44842394-44842395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372901605	chr6:44842539-44842540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535658805	chr6:44842555-44842556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374728573	chr6:44842592-44842593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143816940	chr6:44842611-44842612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549140591	chr6:44842685-44842686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565915845	chr6:44842686-44842687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372527841	chr6:44842694-44842695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375845474	chr6:44842847-44842848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44833600-44849400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:44838200-44848800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:44838400-44854200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:44844200-44847800	Weak transcription	Dnd41	blood
5	chr6:44845200-44847800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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