Variant report

Variant	esv3391501
Chromosome Location	chr6:49449038-49450875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143805586	chr6:49449056-49449057	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs535380143	chr6:49449115-49449116	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552925457	chr6:49449131-49449132	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs114352722	chr6:49449132-49449133	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150939742	chr6:49449178-49449179	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs564141697	chr6:49449180-49449181	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575958462	chr6:49449216-49449217	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543447331	chr6:49449245-49449246	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs376989024	chr6:49449251-49449252	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573007909	chr6:49449252-49449253	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548460012	chr6:49449253-49449254	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112294028	chr6:49449293-49449294	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568471369	chr6:49449346-49449347	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs527853750	chr6:49449380-49449381	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369923494	chr6:49449393-49449394	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs202092164	chr6:49449398-49449399	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570570217	chr6:49449465-49449466	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531700213	chr6:49449502-49449503	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs7740858	chr6:49449521-49449522	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs187969497	chr6:49449530-49449531	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs367845091	chr6:49449546-49449547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs538528655	chr6:49449547-49449548	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs199815246	chr6:49449548-49449549	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535906173	chr6:49449549-49449550	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568338303	chr6:49449552-49449553	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535775293	chr6:49449574-49449575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs554072869	chr6:49449598-49449599	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565902457	chr6:49449602-49449603	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111784704	chr6:49449620-49449621	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs180940782	chr6:49449630-49449631	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs187154893	chr6:49449631-49449632	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs371910979	chr6:49449646-49449647	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs557300523	chr6:49449654-49449655	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543129748	chr6:49449655-49449656	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577354325	chr6:49449705-49449706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192511576	chr6:49449717-49449718	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183349001	chr6:49449720-49449721	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs375247871	chr6:49449752-49449753	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560369719	chr6:49449760-49449761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527890671	chr6:49449763-49449764	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546026852	chr6:49449769-49449770	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs564519443	chr6:49449828-49449829	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186233821	chr6:49449833-49449834	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs549991321	chr6:49449886-49449887	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568456028	chr6:49449887-49449888	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs529275535	chr6:49449890-49449891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs547715453	chr6:49449896-49449897	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs566021722	chr6:49449897-49449898	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539742365	chr6:49449898-49449899	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs558012966	chr6:49449908-49449909	Weak transcription Strong transcription ZNF genes & repeats	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
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
Autism	22495311	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
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	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
Bladder cancer	21909424	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49431600-49449200	Weak transcription	Spleen	Spleen
2	chr6:49431800-49456400	Weak transcription	Placenta	Placenta
3	chr6:49431800-49456600	Weak transcription	Left Ventricle	heart
4	chr6:49431800-49461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:49431800-49462000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:49432000-49451400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:49432000-49456200	Weak transcription	Brain Anterior Caudate	brain
8	chr6:49432000-49456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:49432000-49457600	Weak transcription	HSMM	muscle
10	chr6:49432000-49459600	Weak transcription	Small Intestine	intestine
11	chr6:49432000-49462000	Weak transcription	Brain Angular Gyrus	brain
12	chr6:49432000-49463000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:49432200-49449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:49432200-49449200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:49432200-49449400	Weak transcription	Ovary	ovary
16	chr6:49432200-49449600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:49432200-49452400	Weak transcription	Primary T cells from cord blood	blood
18	chr6:49432200-49456200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:49432200-49456400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:49432200-49456400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:49432200-49456600	Weak transcription	NH-A	brain
22	chr6:49432200-49457400	Weak transcription	Brain Germinal Matrix	brain
23	chr6:49432200-49461600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:49432200-49462400	Weak transcription	Fetal Lung	lung
25	chr6:49432200-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:49432200-49463800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:49432200-49465000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:49432400-49456400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:49432600-49456000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:49432600-49456000	Weak transcription	HMEC	breast
31	chr6:49432600-49456400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:49432600-49456400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:49432600-49456800	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:49432600-49460600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:49432600-49472000	Weak transcription	NHEK	skin
36	chr6:49433200-49459600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:49433200-49461200	Weak transcription	NHDF-Ad	bronchial
38	chr6:49433600-49449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:49433600-49458600	Weak transcription	Hela-S3	cervix
40	chr6:49434200-49456400	Weak transcription	GM12878-XiMat	blood
41	chr6:49437400-49456400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:49439400-49456600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:49440400-49449400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:49440400-49460000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:49440400-49465200	Weak transcription	HUVEC	blood vessel
46	chr6:49440800-49455200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:49441000-49449200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:49441000-49456200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:49441000-49456400	Weak transcription	Liver	Liver
50	chr6:49441000-49456400	Weak transcription	K562	blood

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