Variant report

Variant	esv2086082
Chromosome Location	chr6:31211422-31213325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31209841..31212396-chr6:31219604..31221505,2	K562	blood:
2	chr6:31208671..31211485-chr6:31212417..31214896,3	MCF-7	breast:
3	chr6:31208671..31211485-chr6:31212417..31214896,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3130697	chr6:31211436-31211437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139419201	chr6:31211447-31211448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533810190	chr6:31211458-31211459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114006078	chr6:31211473-31211474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78847255	chr6:31211497-31211498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574377283	chr6:31211504-31211505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185446217	chr6:31211577-31211578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9264127	chr6:31211592-31211593	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530601570	chr6:31211618-31211619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149453626	chr6:31211622-31211623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376449625	chr6:31211679-31211680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369317028	chr6:31212119-31212120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564037316	chr6:31212769-31212770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199819704	chr6:31212866-31212867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200533208	chr6:31212906-31212907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368078137	chr6:31213114-31213115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201757636	chr6:31213116-31213117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528410335	chr6:31213122-31213123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78830524	chr6:31213143-31213144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568319740	chr6:31213154-31213155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529312368	chr6:31213157-31213158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117506082	chr6:31213225-31213226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569371248	chr6:31213304-31213305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1639106	chr6:31213317-31213318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114034507	chr6:31213318-31213319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Lung cancer	18438408	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
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
Ovarian cancer	21781307	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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	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
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31202600-31213600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:31210800-31211600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr6:31210800-31211600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:31211000-31211600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:31211000-31211600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:31211000-31211600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:31211000-31211600	Enhancers	NHEK	skin
8	chr6:31211200-31211600	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:31211200-31211600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:31211200-31211600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:31211400-31213200	Weak transcription	HMEC	breast
12	chr6:31211400-31213600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:31211600-31212400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:31211600-31213000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:31211600-31213000	Weak transcription	NHEK	skin
16	chr6:31211600-31213200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:31211600-31213200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:31211600-31213200	Weak transcription	Hela-S3	cervix
19	chr6:31211600-31213400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:31211600-31213400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:31211600-31213600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:31211600-31213600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:31212000-31213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:31213000-31214400	Enhancers	NHEK	skin
25	chr6:31213200-31213400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:31213200-31213400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr6:31213200-31213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:31213200-31213800	Enhancers	Hela-S3	cervix
29	chr6:31213200-31214000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:31213200-31214600	Enhancers	HMEC	breast

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