Variant report

Variant	esv3368520
Chromosome Location	chr6:54881042-54905736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 728 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6907460	chr6:54881047-54881048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534116652	chr6:54881064-54881065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554367308	chr6:54881075-54881076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548934991	chr6:54881084-54881085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553768859	chr6:54881128-54881129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555258189	chr6:54881190-54881191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9370365	chr6:54881191-54881192	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543230707	chr6:54881192-54881193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556922393	chr6:54881241-54881242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539495116	chr6:54881278-54881279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140623956	chr6:54881308-54881309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575787513	chr6:54881318-54881319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76188720	chr6:54881322-54881323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561602556	chr6:54881398-54881399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575002088	chr6:54881412-54881413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144552138	chr6:54881499-54881500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9349746	chr6:54881502-54881503	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532373014	chr6:54881504-54881505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552249252	chr6:54881508-54881509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192668151	chr6:54881540-54881541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6908568	chr6:54881564-54881565	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147849751	chr6:54881598-54881599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9357827	chr6:54881599-54881600	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73743028	chr6:54881626-54881627	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185060803	chr6:54881639-54881640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570460913	chr6:54881640-54881641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189628604	chr6:54881655-54881656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556281599	chr6:54881668-54881669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543886261	chr6:54881713-54881714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181431130	chr6:54881722-54881723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567440208	chr6:54881740-54881741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184417755	chr6:54881783-54881784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574984790	chr6:54881800-54881801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369365153	chr6:54881871-54881872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574364528	chr6:54881875-54881876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540476991	chr6:54881883-54881884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560496254	chr6:54881884-54881885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9357828	chr6:54881912-54881913	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140341706	chr6:54881920-54881921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10948880	chr6:54882003-54882004	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs59536488	chr6:54882051-54882052	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs201723646	chr6:54882079-54882080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149920452	chr6:54882103-54882104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189247142	chr6:54882130-54882131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527529787	chr6:54882149-54882150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373570722	chr6:54882160-54882161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78265000	chr6:54882193-54882194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181992932	chr6:54882274-54882275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532939536	chr6:54882291-54882292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145764169	chr6:54882331-54882332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54877200-54881200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:54879400-54881400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:54879800-54882400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:54880000-54881200	Weak transcription	Fetal Stomach	stomach
5	chr6:54880000-54881400	Weak transcription	Stomach Mucosa	stomach
6	chr6:54880000-54881600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:54880400-54883200	Enhancers	Fetal Intestine Large	intestine
8	chr6:54880400-54883200	Enhancers	Fetal Lung	lung
9	chr6:54880800-54883400	Enhancers	Fetal Intestine Small	intestine
10	chr6:54881000-54881200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr6:54881000-54881600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:54881200-54881600	Enhancers	Fetal Stomach	stomach
13	chr6:54881200-54881600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:54881200-54881800	Enhancers	Gastric	stomach
15	chr6:54881400-54881800	Enhancers	Stomach Mucosa	stomach
16	chr6:54881600-54882000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:54881600-54882000	Enhancers	Small Intestine	intestine
18	chr6:54881600-54882400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:54881600-54882600	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:54881600-54883000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:54882000-54882200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:54882000-54883000	Weak transcription	Small Intestine	intestine
23	chr6:54882200-54883200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr6:54882400-54882600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:54882400-54883200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr6:54883200-54883400	Enhancers	Small Intestine	intestine
27	chr6:54883800-54887800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:54887400-54889800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:54887600-54889400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr6:54887800-54888000	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:54888000-54888400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:54888200-54888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:54888200-54889400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:54888400-54889400	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:54896200-54896800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr6:54896400-54897800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:54896800-54897000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:54896800-54897800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:54897000-54897400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:54897400-54898000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:54897400-54898200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:54897800-54898000	Enhancers	Primary hematopoietic stem cells	blood
43	chr6:54897800-54898400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:54897800-54899600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:54897800-54900600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr6:54897800-54900800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:54898000-54899000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr6:54898000-54900800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:54898400-54898800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr6:54898800-54900800	Enhancers	Primary monocytes fromperipheralblood	blood

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