Variant report

Variant	esv3471790
Chromosome Location	chr6:34697974-34702972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34683902..34686435-chr6:34695998..34698813,2	K562	blood:
2	chr6:34698371..34700265-chr6:34702057..34704593,2	K562	blood:
3	chr6:34696691..34699544-chr6:34703628..34706154,2	K562	blood:
4	chr6:34694281..34696402-chr6:34696757..34699128,2	K562	blood:
5	chr6:34698371..34700265-chr6:34702057..34704593,2	K562	blood:

Extended variants
information (count: 164 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs146778275	chr6:34698012-34698013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547063173	chr6:34698037-34698038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185143533	chr6:34698041-34698042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536109056	chr6:34698047-34698048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140717672	chr6:34698057-34698058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371800836	chr6:34698075-34698076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569318465	chr6:34698133-34698134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2814954	chr6:34698146-34698147	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs557548139	chr6:34698154-34698155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551579380	chr6:34698257-34698258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571725549	chr6:34698298-34698299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34377413	chr6:34698301-34698302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs533537897	chr6:34698306-34698307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150471530	chr6:34698318-34698319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145406716	chr6:34698329-34698330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544071705	chr6:34698368-34698369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562456194	chr6:34698404-34698405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372870835	chr6:34698513-34698514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577744970	chr6:34698531-34698532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116270597	chr6:34698558-34698559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564419552	chr6:34698564-34698565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528626659	chr6:34698668-34698669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10947524	chr6:34698754-34698755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10568611	chr6:34698786-34698787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs36077178	chr6:34698892-34698893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562035358	chr6:34698913-34698914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571770009	chr6:34698920-34698921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567889912	chr6:34698947-34698948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2814955	chr6:34698970-34698971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs569564057	chr6:34698977-34698978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138031113	chr6:34698984-34698985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551993939	chr6:34698991-34698992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566963778	chr6:34698994-34698995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533592436	chr6:34699031-34699032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2764210	chr6:34699049-34699050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs200852018	chr6:34699065-34699066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188040736	chr6:34699072-34699073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2814956	chr6:34699109-34699110	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs556161909	chr6:34699148-34699149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577914067	chr6:34699161-34699162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181213665	chr6:34699165-34699166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558591780	chr6:34699185-34699186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138612688	chr6:34699186-34699187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572168893	chr6:34699207-34699208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540698044	chr6:34699217-34699218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557527311	chr6:34699218-34699219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185303986	chr6:34699236-34699237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371051876	chr6:34699269-34699270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141146476	chr6:34699287-34699288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191384238	chr6:34699293-34699294	Enhancers 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	chr6:34696000-34699000	Weak transcription	K562	blood
2	chr6:34696400-34699400	Enhancers	Fetal Muscle Leg	muscle
3	chr6:34696400-34700600	Enhancers	HepG2	liver
4	chr6:34697200-34699200	Enhancers	Fetal Muscle Trunk	muscle
5	chr6:34697400-34698200	Enhancers	Fetal Heart	heart
6	chr6:34697400-34698200	Enhancers	HSMM	muscle
7	chr6:34697400-34698200	Enhancers	HSMMtube	muscle
8	chr6:34697600-34698200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:34697600-34698200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:34697800-34698000	Enhancers	Esophagus	oesophagus
11	chr6:34697800-34698200	Enhancers	Left Ventricle	heart
12	chr6:34697800-34698200	Enhancers	Psoas Muscle	Psoas
13	chr6:34698000-34714000	Weak transcription	Esophagus	oesophagus
14	chr6:34698200-34698400	Enhancers	Stomach Mucosa	stomach
15	chr6:34698400-34699000	Weak transcription	Stomach Mucosa	stomach
16	chr6:34699000-34699400	Enhancers	K562	blood
17	chr6:34699000-34699800	Enhancers	Stomach Mucosa	stomach
18	chr6:34699200-34700000	Enhancers	Liver	Liver
19	chr6:34699400-34707000	Weak transcription	K562	blood
20	chr6:34699800-34712200	Weak transcription	Stomach Mucosa	stomach
21	chr6:34700600-34703000	Weak transcription	HepG2	liver

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