Variant report

Variant	esv32827
Chromosome Location	chr6:34694806-34700121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34694281..34696402-chr6:34696757..34699128,2	K562	blood:
2	chr6:34685141..34687022-chr6:34692903..34695560,2	K562	blood:
3	chr6:34696691..34699544-chr6:34703628..34706154,2	K562	blood:
4	chr6:34689130..34691156-chr6:34693829..34696616,2	K562	blood:
5	chr6:34698371..34700265-chr6:34702057..34704593,2	K562	blood:
6	chr6:34685141..34688900-chr6:34692903..34695756,4	K562	blood:
7	chr6:34683902..34686435-chr6:34695998..34698813,2	K562	blood:
8	chr6:34694281..34696402-chr6:34696757..34699128,2	K562	blood:

No data

Extended variants
information (count: 189 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141264197	chr6:34694857-34694858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565431747	chr6:34694975-34694976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532620735	chr6:34694976-34694977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188934022	chr6:34695010-34695011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565675767	chr6:34695021-34695022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79482832	chr6:34695050-34695051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2814951	chr6:34695081-34695082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs144964348	chr6:34695093-34695094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529207585	chr6:34695116-34695117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79555446	chr6:34695148-34695149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57916801	chr6:34695221-34695222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193249478	chr6:34695281-34695282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146888527	chr6:34695291-34695292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34116389	chr6:34695365-34695366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554223452	chr6:34695417-34695418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572475345	chr6:34695432-34695433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536237087	chr6:34695444-34695445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559620396	chr6:34695459-34695460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34463942	chr6:34695493-34695494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs35444671	chr6:34695505-34695506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543682838	chr6:34695506-34695507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565456783	chr6:34695521-34695522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182673112	chr6:34695559-34695560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541293713	chr6:34695581-34695582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559393614	chr6:34695627-34695628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529853200	chr6:34695630-34695631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527640179	chr6:34695634-34695635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548314094	chr6:34695638-34695639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57037937	chr6:34695689-34695690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563225776	chr6:34695723-34695724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530541552	chr6:34695871-34695872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148127266	chr6:34695905-34695906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376984975	chr6:34695909-34695910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112061163	chr6:34695930-34695931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79016487	chr6:34695959-34695960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534794554	chr6:34696012-34696013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556889040	chr6:34696031-34696032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71000088	chr6:34696060-34696061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141941652	chr6:34696083-34696084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368628149	chr6:34696118-34696119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547820312	chr6:34696125-34696126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576777559	chr6:34696137-34696138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71567461	chr6:34696144-34696145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536301534	chr6:34696160-34696161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72910167	chr6:34696165-34696166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs373437059	chr6:34696216-34696217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575996121	chr6:34696218-34696219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12202688	chr6:34696225-34696226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71567462	chr6:34696236-34696237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537083452	chr6:34696292-34696293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34694600-34696000	Enhancers	K562	blood
2	chr6:34696000-34699000	Weak transcription	K562	blood
3	chr6:34696400-34699400	Enhancers	Fetal Muscle Leg	muscle
4	chr6:34696400-34700600	Enhancers	HepG2	liver
5	chr6:34697200-34699200	Enhancers	Fetal Muscle Trunk	muscle
6	chr6:34697400-34698200	Enhancers	Fetal Heart	heart
7	chr6:34697400-34698200	Enhancers	HSMM	muscle
8	chr6:34697400-34698200	Enhancers	HSMMtube	muscle
9	chr6:34697600-34698200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:34697600-34698200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:34697800-34698000	Enhancers	Esophagus	oesophagus
12	chr6:34697800-34698200	Enhancers	Left Ventricle	heart
13	chr6:34697800-34698200	Enhancers	Psoas Muscle	Psoas
14	chr6:34698000-34714000	Weak transcription	Esophagus	oesophagus
15	chr6:34698200-34698400	Enhancers	Stomach Mucosa	stomach
16	chr6:34698400-34699000	Weak transcription	Stomach Mucosa	stomach
17	chr6:34699000-34699400	Enhancers	K562	blood
18	chr6:34699000-34699800	Enhancers	Stomach Mucosa	stomach
19	chr6:34699200-34700000	Enhancers	Liver	Liver
20	chr6:34699400-34707000	Weak transcription	K562	blood
21	chr6:34699800-34712200	Weak transcription	Stomach Mucosa	stomach

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