Variant report

Variant	esv3378197
Chromosome Location	chr6:31221223-31228521
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: 125 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574773987	chr6:31227206-31227207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189195118	chr6:31227218-31227219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9264327	chr6:31227219-31227220	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs150543164	chr6:31227236-31227237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9264328	chr6:31227250-31227251	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs9264329	chr6:31227254-31227255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs9264330	chr6:31227263-31227264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs181538866	chr6:31227275-31227276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529592501	chr6:31227304-31227305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547833539	chr6:31227306-31227307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569649393	chr6:31227309-31227310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370001105	chr6:31227316-31227317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76159976	chr6:31227317-31227318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112985663	chr6:31227321-31227322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186534082	chr6:31227339-31227340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139410771	chr6:31227344-31227345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149950940	chr6:31227346-31227347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574604768	chr6:31227387-31227388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558603725	chr6:31227401-31227402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs41268872	chr6:31227402-31227403	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs191392216	chr6:31227403-31227404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575738643	chr6:31227455-31227456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546306836	chr6:31227456-31227457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9264333	chr6:31227457-31227458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs9264334	chr6:31227475-31227476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs9264335	chr6:31227494-31227495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs139968583	chr6:31227496-31227497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2853965	chr6:31227505-31227506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9264337	chr6:31227506-31227507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs182814380	chr6:31227534-31227535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112973824	chr6:31227557-31227558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556455964	chr6:31227568-31227569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9264338	chr6:31227577-31227578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs9264339	chr6:31227588-31227589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs534422439	chr6:31227626-31227627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28749575	chr6:31227639-31227640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs143021662	chr6:31227649-31227650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138594816	chr6:31227650-31227651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557258376	chr6:31227662-31227663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569268553	chr6:31227666-31227667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2524125	chr6:31227667-31227668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141583429	chr6:31227671-31227672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201012238	chr6:31227677-31227678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145480498	chr6:31227686-31227687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540735294	chr6:31227687-31227688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs137990055	chr6:31227697-31227698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9264341	chr6:31227713-31227714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs544561941	chr6:31227726-31227727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562892446	chr6:31227730-31227731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533449424	chr6:31227733-31227734	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31227200-31228400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:31227200-31228800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr6:31227200-31228800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr6:31227400-31228400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr6:31227600-31228200	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:31227600-31229200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:31227800-31228400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:31227800-31228400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:31227800-31228600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:31228000-31228200	Enhancers	Fetal Thymus	thymus
11	chr6:31228000-31228400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:31228000-31228400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:31228000-31228600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:31228000-31228800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:31228200-31235800	Weak transcription	Fetal Thymus	thymus
16	chr6:31228400-31233800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:31228400-31235400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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