Variant report

Variant	esv3329294
Chromosome Location	chr6:34011799-34012374
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	chr6:34011747..34013677-chr6:34019752..34021828,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372575035	chr6:34011809-34011810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35269977	chr6:34011825-34011826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537162522	chr6:34011826-34011827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78021705	chr6:34011834-34011835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201484727	chr6:34011843-34011844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139572683	chr6:34011854-34011855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536423212	chr6:34011855-34011856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113369768	chr6:34011869-34011870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201310081	chr6:34011897-34011898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576524945	chr6:34011903-34011904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71678350	chr6:34011910-34011911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540865064	chr6:34011928-34011929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138369188	chr6:34011934-34011935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541838412	chr6:34011939-34011940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531019999	chr6:34011941-34011942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10947474	chr6:34011945-34011946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541729867	chr6:34011947-34011948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561348957	chr6:34011951-34011952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531566963	chr6:34011963-34011964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149560301	chr6:34011964-34011965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565420383	chr6:34011968-34011969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200421962	chr6:34011969-34011970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532636972	chr6:34011970-34011971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370976999	chr6:34011975-34011976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533677306	chr6:34011977-34011978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548040731	chr6:34011978-34011979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13194353	chr6:34011981-34011982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566250548	chr6:34011984-34011985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13194357	chr6:34011987-34011988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530441080	chr6:34011988-34011989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548563032	chr6:34011992-34011993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200437645	chr6:34012002-34012003	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs13194361	chr6:34012003-34012004	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs201679393	chr6:34012005-34012006	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs537542251	chr6:34012007-34012008	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs375229312	chr6:34012024-34012025	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs199711307	chr6:34012026-34012027	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs558512852	chr6:34012028-34012029	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs570245756	chr6:34012042-34012043	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs200834298	chr6:34012048-34012049	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs552769329	chr6:34012054-34012055	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs200206367	chr6:34012063-34012064	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs574257335	chr6:34012066-34012067	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs542117059	chr6:34012080-34012081	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs557021022	chr6:34012103-34012104	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs201121660	chr6:34012139-34012140	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs368038250	chr6:34012140-34012141	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs575485340	chr6:34012148-34012149	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs199557202	chr6:34012150-34012151	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs540171375	chr6:34012151-34012152	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
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
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
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	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
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33984400-34023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33988000-34013600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:33994400-34013000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:34000200-34016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:34002800-34027000	Weak transcription	Spleen	Spleen
6	chr6:34004000-34013400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:34004200-34013400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:34004400-34013400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:34010400-34013000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:34010400-34013000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:34010400-34013400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:34010600-34012000	Weak transcription	GM12878-XiMat	blood
13	chr6:34011600-34013600	Weak transcription	Brain Anterior Caudate	brain
14	chr6:34011800-34012000	Enhancers	Fetal Kidney	kidney
15	chr6:34012000-34012800	Bivalent Enhancer	Fetal Brain Male	brain
16	chr6:34012000-34012800	Bivalent Enhancer	Fetal Kidney	kidney

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