Variant report

Variant	esv3434857
Chromosome Location	chr3:23527314-23531055
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	chr3:23526588..23528958-chr3:23530661..23532883,2	K562	blood:
2	chr3:23526588..23528958-chr3:23530661..23532883,2	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559730521	chr3:23527352-23527353	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564039195	chr3:23527359-23527360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184731567	chr3:23527373-23527374	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs35413534	chr3:23527378-23527379	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs7641437	chr3:23527471-23527472	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs563325399	chr3:23527475-23527476	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530639155	chr3:23527476-23527477	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552020202	chr3:23527509-23527510	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374562710	chr3:23527527-23527528	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560118702	chr3:23527537-23527538	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs778519	chr3:23527593-23527594	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74509211	chr3:23527672-23527673	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149953506	chr3:23527681-23527682	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562456696	chr3:23527743-23527744	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188017225	chr3:23527857-23527858	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569992937	chr3:23527892-23527893	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529081405	chr3:23527894-23527895	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144255397	chr3:23527944-23527945	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75516655	chr3:23527961-23527962	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551436820	chr3:23527970-23527971	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548918890	chr3:23527982-23527983	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148717136	chr3:23527989-23527990	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558809320	chr3:23527997-23527998	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147893196	chr3:23528019-23528020	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141766261	chr3:23528029-23528030	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370181642	chr3:23528039-23528040	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371401376	chr3:23528044-23528045	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574788344	chr3:23528073-23528074	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541817431	chr3:23528099-23528100	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563258886	chr3:23528160-23528161	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147713245	chr3:23528186-23528187	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545881818	chr3:23528200-23528201	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571951204	chr3:23528217-23528218	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs778518	chr3:23528303-23528304	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372900784	chr3:23528305-23528306	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547590086	chr3:23528310-23528311	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113300692	chr3:23528319-23528320	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34710747	chr3:23528326-23528327	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369478149	chr3:23528327-23528328	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192525172	chr3:23528371-23528372	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373702253	chr3:23528414-23528415	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569689564	chr3:23528454-23528455	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184336056	chr3:23528468-23528469	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35455231	chr3:23528472-23528473	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142660148	chr3:23528484-23528485	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570864286	chr3:23528516-23528517	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188308435	chr3:23528535-23528536	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553226249	chr3:23528547-23528548	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574721442	chr3:23528548-23528549	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542123858	chr3:23528570-23528571	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23512000-23527400	Weak transcription	Left Ventricle	heart
2	chr3:23513800-23527400	Weak transcription	Right Atrium	heart
3	chr3:23521000-23527600	Weak transcription	Right Ventricle	heart
4	chr3:23521000-23531800	Weak transcription	NHDF-Ad	bronchial
5	chr3:23521200-23527600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:23521600-23527400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:23521600-23532000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:23521800-23527400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:23521800-23527600	Weak transcription	Spleen	Spleen
10	chr3:23521800-23528600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:23522000-23527400	Weak transcription	Thymus	Thymus
12	chr3:23522000-23527400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:23522000-23527800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:23522000-23531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:23522000-23531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:23522200-23527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:23522200-23527400	Weak transcription	Primary B cells from cord blood	blood
18	chr3:23522200-23527600	Weak transcription	Fetal Thymus	thymus
19	chr3:23522200-23527800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr3:23522200-23528000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:23523000-23530800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:23523200-23536800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:23523400-23527600	Weak transcription	Aorta	Aorta
24	chr3:23523400-23531000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:23523600-23527600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:23523600-23528000	Weak transcription	Brain Anterior Caudate	brain
27	chr3:23523600-23542400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:23523800-23527400	Weak transcription	Fetal Lung	lung
29	chr3:23523800-23527400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:23524000-23534800	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:23524800-23527600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:23524800-23531000	Weak transcription	Psoas Muscle	Psoas
33	chr3:23525800-23527400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:23526000-23528200	Weak transcription	Fetal Heart	heart
35	chr3:23526000-23532000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:23526400-23527400	Weak transcription	Adipose Nuclei	Adipose
37	chr3:23526400-23527400	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:23526600-23554000	Weak transcription	Primary T cells from cord blood	blood
39	chr3:23527200-23528000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr3:23527200-23528600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr3:23527400-23527600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr3:23527400-23527800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:23527400-23528000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:23527400-23528000	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr3:23527400-23528600	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr3:23527400-23528600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr3:23527400-23528800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:23527400-23528800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:23527400-23528800	Enhancers	Left Ventricle	heart
50	chr3:23527400-23528800	ZNF genes & repeats	Lung	lung

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