Variant report

Variant	esv2422034
Chromosome Location	chr6:31219803-31229678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31209841..31212396-chr6:31219604..31221505,2	K562	blood:

Extended variants
information (count: 284 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199503244	chr6:31220200-31220201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370063127	chr6:31220202-31220203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9264191	chr6:31220232-31220233	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs7449932	chr6:31220244-31220245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs7452529	chr6:31220253-31220254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs2394941	chr6:31220273-31220274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs537114823	chr6:31220275-31220276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73728467	chr6:31220309-31220310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs137958971	chr6:31220315-31220316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3095257	chr6:31220318-31220319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs386698915	chr6:31220364-31220365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4473905	chr6:31220369-31220370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs2394943	chr6:31220388-31220389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs542543750	chr6:31220389-31220390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386698916	chr6:31220421-31220422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73728468	chr6:31220425-31220426	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114506115	chr6:31220426-31220427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117378644	chr6:31220428-31220429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116506047	chr6:31220440-31220441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2394944	chr6:31220450-31220451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs559381810	chr6:31220470-31220471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186128418	chr6:31220473-31220474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112445290	chr6:31220483-31220484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111470335	chr6:31220490-31220491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112431221	chr6:31220506-31220507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117836273	chr6:31220534-31220535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9279056	chr6:31220549-31220550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386698917	chr6:31220552-31220553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530843226	chr6:31220557-31220558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190527790	chr6:31220562-31220563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3134747	chr6:31220567-31220568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs374652752	chr6:31220647-31220648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114418536	chr6:31220648-31220649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182732680	chr6:31220656-31220657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140423547	chr6:31220725-31220726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371490180	chr6:31220726-31220727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201246838	chr6:31220729-31220730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199860764	chr6:31220730-31220731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3134746	chr6:31220752-31220753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs187799612	chr6:31220754-31220755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs3130436	chr6:31220783-31220784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs186297002	chr6:31220785-31220786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550069316	chr6:31220787-31220788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574773987	chr6:31227206-31227207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189195118	chr6:31227218-31227219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9264327	chr6:31227219-31227220	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs150543164	chr6:31227236-31227237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9264328	chr6:31227250-31227251	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs9264329	chr6:31227254-31227255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs9264330	chr6:31227263-31227264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31220200-31220600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:31220200-31220600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:31220200-31220800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:31220400-31220800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:31227200-31228400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:31227200-31228800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr6:31227200-31228800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr6:31227400-31228400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr6:31227600-31228200	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:31227600-31229200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr6:31227800-31228400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:31227800-31228400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr6:31227800-31228600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:31228000-31228200	Enhancers	Fetal Thymus	thymus
15	chr6:31228000-31228400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:31228000-31228400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr6:31228000-31228600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:31228000-31228800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:31228200-31235800	Weak transcription	Fetal Thymus	thymus
20	chr6:31228400-31233800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:31228400-31235400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:31228600-31234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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