Variant report

Variant	esv3355616
Chromosome Location	chr6:167449662-167452760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167442856..167445565-chr6:167449588..167451484,2	K562	blood:
2	chr6:167446559..167451164-chr6:167453044..167456262,4	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544270001	chr6:167449691-167449692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556184177	chr6:167449705-167449706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576730753	chr6:167449708-167449709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577672824	chr6:167449710-167449711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545130596	chr6:167449741-167449742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560263939	chr6:167449754-167449755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115365988	chr6:167449773-167449774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6922071	chr6:167449781-167449782	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs537435382	chr6:167449912-167449913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58121512	chr6:167449948-167449949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531909594	chr6:167449988-167449989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143420178	chr6:167450006-167450007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16899812	chr6:167450018-167450019	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs199779083	chr6:167450019-167450020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547501042	chr6:167450067-167450068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574280066	chr6:167450090-167450091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566024634	chr6:167450107-167450108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145734933	chr6:167450146-167450147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs162293	chr6:167450171-167450172	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs548900168	chr6:167450254-167450255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111629956	chr6:167450264-167450265	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538145366	chr6:167450275-167450276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556452737	chr6:167450280-167450281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577737605	chr6:167450296-167450297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538606316	chr6:167450300-167450301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10455983	chr6:167450302-167450303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553870132	chr6:167450352-167450353	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572024259	chr6:167450370-167450371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112351919	chr6:167450453-167450454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139363028	chr6:167450472-167450473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112644665	chr6:167450513-167450514	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543727026	chr6:167450523-167450524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565203235	chr6:167450536-167450537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150898292	chr6:167450574-167450575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547364827	chr6:167450580-167450581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116236427	chr6:167450590-167450591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530125642	chr6:167450598-167450599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs16899815	chr6:167450609-167450610	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79796119	chr6:167450627-167450628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74984832	chr6:167450706-167450707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550117854	chr6:167450724-167450725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562664447	chr6:167450792-167450793	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571553015	chr6:167450793-167450794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73031591	chr6:167450842-167450843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150171427	chr6:167450846-167450847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs68104683	chr6:167450849-167450850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76002095	chr6:167450850-167450851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72079749	chr6:167450851-167450852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2345750	chr6:167450852-167450853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2345751	chr6:167450853-167450854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167413600-167452400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:167414600-167450200	Weak transcription	Stomach Mucosa	stomach
3	chr6:167415400-167454000	Strong transcription	Fetal Thymus	thymus
4	chr6:167415400-167456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:167417200-167455400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:167417600-167454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:167417800-167455200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:167423000-167457600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:167423400-167452200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr6:167425600-167453000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:167426600-167450600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:167432200-167450200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:167434200-167450600	Strong transcription	GM12878-XiMat	blood
14	chr6:167434800-167452000	Strong transcription	Primary T cells from cord blood	blood
15	chr6:167435800-167452200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:167436200-167450200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr6:167437400-167454200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:167438000-167456200	Strong transcription	Adipose Nuclei	Adipose
19	chr6:167439200-167454000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:167439600-167453200	Strong transcription	Fetal Intestine Small	intestine
21	chr6:167440400-167459400	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:167441000-167461800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:167441200-167454200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr6:167441200-167456600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:167441400-167455400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:167441400-167456200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:167441400-167473400	Weak transcription	Psoas Muscle	Psoas
28	chr6:167441600-167452200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:167441600-167454200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr6:167441600-167454600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:167441600-167455600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:167441800-167456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:167442000-167451200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:167443400-167451400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr6:167443600-167453600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:167443800-167453400	Weak transcription	A549	lung
37	chr6:167444800-167456200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:167445200-167451600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:167445200-167452400	Strong transcription	K562	blood
40	chr6:167445600-167460200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:167446600-167450400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:167446600-167450600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:167446600-167451600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:167446800-167451800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr6:167446800-167452000	Strong transcription	Dnd41	blood
46	chr6:167447000-167451600	Strong transcription	HSMM	muscle
47	chr6:167447000-167453000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:167447200-167450000	Strong transcription	Osteobl	bone
49	chr6:167447200-167450200	Strong transcription	Primary B cells from cord blood	blood
50	chr6:167447200-167450200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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