Variant report

Variant	esv3391837
Chromosome Location	chr6:131374715-131375870
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	chr6:131370012..131372653-chr6:131373371..131376105,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574964903	chr6:131374750-131374751	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190963288	chr6:131374763-131374764	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373402372	chr6:131374780-131374781	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182622085	chr6:131374791-131374792	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142333793	chr6:131374815-131374816	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541704642	chr6:131374816-131374817	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540116210	chr6:131374831-131374832	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373737794	chr6:131374833-131374834	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559525356	chr6:131374834-131374835	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535993309	chr6:131374844-131374845	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555087135	chr6:131374862-131374863	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145951806	chr6:131374931-131374932	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139514804	chr6:131374944-131374945	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149693547	chr6:131374956-131374957	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530987119	chr6:131374957-131374958	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549203437	chr6:131374964-131374965	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76720662	chr6:131374965-131374966	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368291707	chr6:131375039-131375040	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576417254	chr6:131375059-131375060	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186988711	chr6:131375060-131375061	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571182801	chr6:131375135-131375136	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55686798	chr6:131375144-131375145	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538649587	chr6:131375162-131375163	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145544358	chr6:131375176-131375177	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550125007	chr6:131375206-131375207	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574738703	chr6:131375210-131375211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535895183	chr6:131375227-131375228	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148460251	chr6:131375255-131375256	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192259497	chr6:131375280-131375281	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535038758	chr6:131375319-131375320	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553653447	chr6:131375349-131375350	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184368066	chr6:131375379-131375380	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73625616	chr6:131375384-131375385	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374574027	chr6:131375464-131375465	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148001060	chr6:131375471-131375472	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202214028	chr6:131375477-131375478	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78754951	chr6:131375481-131375482	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79544676	chr6:131375482-131375483	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62422383	chr6:131375486-131375487	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62422384	chr6:131375492-131375493	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62422385	chr6:131375495-131375496	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116951842	chr6:131375518-131375519	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576667090	chr6:131375591-131375592	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543135215	chr6:131375592-131375593	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560960174	chr6:131375616-131375617	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115495290	chr6:131375627-131375628	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368682201	chr6:131375715-131375716	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7758884	chr6:131375733-131375734	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533959853	chr6:131375737-131375738	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540909578	chr6:131375748-131375749	ZNF genes & repeats Weak transcription Strong transcription	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
Autism	21448237	CNVD
Autism	22495311	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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131346000-131375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:131351400-131375000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:131356600-131375000	Weak transcription	Brain Angular Gyrus	brain
4	chr6:131359000-131374800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:131360800-131374800	Weak transcription	HSMM	muscle
6	chr6:131360800-131375000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:131368200-131374800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:131368200-131375200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:131371000-131375000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:131371200-131374800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:131371200-131374800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:131371800-131375000	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:131372200-131375000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:131372600-131374800	Weak transcription	Adipose Nuclei	Adipose
15	chr6:131372600-131374800	Weak transcription	Osteobl	bone
16	chr6:131373400-131374800	Weak transcription	Ovary	ovary
17	chr6:131373400-131381400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:131373600-131376800	ZNF genes & repeats	NHEK	skin
19	chr6:131373800-131377400	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr6:131374000-131374800	Weak transcription	HepG2	liver
21	chr6:131374000-131377600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:131374200-131376400	ZNF genes & repeats	Fetal Stomach	stomach
23	chr6:131374400-131375000	Enhancers	HMEC	breast
24	chr6:131374400-131378200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:131374600-131375400	ZNF genes & repeats	Left Ventricle	heart
26	chr6:131374600-131375400	ZNF genes & repeats	NHDF-Ad	bronchial
27	chr6:131374600-131375800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:131374600-131376000	ZNF genes & repeats	HUVEC	blood vessel
29	chr6:131374600-131376400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
30	chr6:131374600-131376400	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr6:131374600-131376400	ZNF genes & repeats	Fetal Lung	lung
32	chr6:131374600-131376600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:131374600-131376600	ZNF genes & repeats	Brain Anterior Caudate	brain
34	chr6:131374600-131376800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr6:131374600-131376800	ZNF genes & repeats	NHLF	lung
36	chr6:131374600-131377000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:131374600-131377200	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr6:131374600-131377400	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr6:131374600-131378000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:131374600-131378000	ZNF genes & repeats	A549	lung
41	chr6:131374800-131375200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr6:131374800-131375200	ZNF genes & repeats	HSMM	muscle
43	chr6:131374800-131375400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr6:131374800-131375400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
45	chr6:131374800-131375600	ZNF genes & repeats	Ovary	ovary
46	chr6:131374800-131375800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:131374800-131375800	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr6:131374800-131376000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr6:131374800-131376200	ZNF genes & repeats	Osteobl	bone
50	chr6:131374800-131376400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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