Variant report

Variant	esv3353738
Chromosome Location	chr6:45870069-45870469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546287488	chr6:45870071-45870072	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532835912	chr6:45870072-45870073	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533896777	chr6:45870116-45870117	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550963705	chr6:45870137-45870138	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562902725	chr6:45870147-45870148	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2297834	chr6:45870148-45870149	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186183124	chr6:45870158-45870159	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567791829	chr6:45870173-45870174	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535205502	chr6:45870178-45870179	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190603204	chr6:45870181-45870182	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547584254	chr6:45870182-45870183	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571908965	chr6:45870195-45870196	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539294408	chr6:45870253-45870254	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs182717773	chr6:45870261-45870262	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187322969	chr6:45870408-45870409	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs190237409	chr6:45870410-45870411	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs139594512	chr6:45870411-45870412	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs45615732	chr6:45870439-45870440	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
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
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45866200-45871000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr6:45866400-45880000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:45866600-45898400	Weak transcription	Colonic Mucosa	Colon
4	chr6:45867000-45871200	Strong transcription	Fetal Intestine Small	intestine
5	chr6:45867200-45870200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr6:45867400-45870400	Genic enhancers	Left Ventricle	heart
7	chr6:45867600-45870200	Weak transcription	Placenta	Placenta
8	chr6:45867800-45870600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:45867800-45871000	Strong transcription	Fetal Intestine Large	intestine
10	chr6:45867800-45884200	Weak transcription	Fetal Heart	heart
11	chr6:45868600-45870400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:45868600-45870800	Enhancers	Fetal Muscle Leg	muscle
13	chr6:45868600-45871200	Enhancers	Psoas Muscle	Psoas
14	chr6:45868800-45889600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:45869000-45870400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:45869000-45870400	Genic enhancers	Right Ventricle	heart
17	chr6:45869000-45871000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:45869000-45879600	Weak transcription	Adipose Nuclei	Adipose
19	chr6:45869200-45870200	Enhancers	Fetal Muscle Trunk	muscle
20	chr6:45869200-45871400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr6:45869200-45871400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:45869400-45870200	Weak transcription	Right Atrium	heart
23	chr6:45869600-45870200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:45869600-45871000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:45869800-45870200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:45869800-45870800	Weak transcription	Brain Anterior Caudate	brain
27	chr6:45870000-45870200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:45870000-45870200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr6:45870000-45870200	Enhancers	Brain Germinal Matrix	brain
30	chr6:45870000-45870200	Enhancers	HSMMtube	muscle
31	chr6:45870000-45870400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:45870000-45870400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr6:45870000-45870400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:45870000-45870400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr6:45870000-45871000	Strong transcription	Lung	lung
36	chr6:45870000-45871200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr6:45870000-45881800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:45870200-45870600	Weak transcription	Brain Germinal Matrix	brain
39	chr6:45870200-45870800	Strong transcription	Placenta	Placenta
40	chr6:45870200-45871000	Enhancers	Right Atrium	heart
41	chr6:45870200-45871200	ZNF genes & repeats	Spleen	Spleen
42	chr6:45870200-45879600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:45870400-45870600	Strong transcription	Left Ventricle	heart
44	chr6:45870400-45871000	Strong transcription	Right Ventricle	heart
45	chr6:45870400-45871200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr6:45870400-45872400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:45870400-45880600	Weak transcription	Duodenum Mucosa	Duodenum

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