Variant report

Variant	esv3437046
Chromosome Location	chr5:178649596-178652094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
2	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:
3	chr5:178650614..178652876-chr5:178653305..178655920,2	K562	blood:

Extended variants
information (count: 203 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138803765	chr5:178649603-178649604	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6881760	chr5:178649608-178649609	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6859608	chr5:178649610-178649611	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528155295	chr5:178649758-178649759	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546370981	chr5:178649769-178649770	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372293503	chr5:178649812-178649813	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs559946876	chr5:178649818-178649819	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs533344558	chr5:178649850-178649851	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs552063626	chr5:178649868-178649869	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs569984699	chr5:178649872-178649873	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs377262724	chr5:178649888-178649889	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs571847084	chr5:178649923-178649924	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs548923925	chr5:178649949-178649950	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs369983107	chr5:178650016-178650017	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577856930	chr5:178650042-178650043	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567312059	chr5:178650061-178650062	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368506952	chr5:178650069-178650070	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190064175	chr5:178650094-178650095	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553170636	chr5:178650130-178650131	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577802204	chr5:178650137-178650138	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538421814	chr5:178650143-178650144	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149362053	chr5:178650145-178650146	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373903573	chr5:178650146-178650147	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575565177	chr5:178650149-178650150	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72818660	chr5:178650167-178650168	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560899622	chr5:178650168-178650169	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572852237	chr5:178650180-178650181	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201102027	chr5:178650227-178650228	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564790795	chr5:178650267-178650268	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138886185	chr5:178650285-178650286	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181410829	chr5:178650297-178650298	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184016185	chr5:178650300-178650301	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542199256	chr5:178650324-178650325	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563656387	chr5:178650339-178650340	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531144263	chr5:178650351-178650352	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149653431	chr5:178650360-178650361	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71589494	chr5:178650364-178650365	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567670109	chr5:178650366-178650367	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59376923	chr5:178650367-178650368	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71589495	chr5:178650393-178650394	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536598739	chr5:178650394-178650395	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371457430	chr5:178650395-178650396	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375343566	chr5:178650399-178650400	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199914296	chr5:178650401-178650402	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386695594	chr5:178650402-178650403	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386695595	chr5:178650403-178650404	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202225864	chr5:178650404-178650405	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200434886	chr5:178650405-178650406	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs781507	chr5:178650406-178650407	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201672412	chr5:178650407-178650408	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178619800-178650200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:178620200-178650200	Weak transcription	Fetal Lung	lung
3	chr5:178631800-178649800	Weak transcription	Gastric	stomach
4	chr5:178638200-178656600	Weak transcription	HSMMtube	muscle
5	chr5:178644200-178654200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:178644600-178653800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:178644800-178650600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:178645000-178650200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:178645000-178650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:178645000-178651800	Weak transcription	HSMM	muscle
11	chr5:178645000-178667800	Weak transcription	Right Atrium	heart
12	chr5:178645200-178650200	Weak transcription	Osteobl	bone
13	chr5:178645200-178650400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:178646200-178650200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:178646200-178650400	Weak transcription	NHLF	lung
16	chr5:178646200-178650600	Weak transcription	Adipose Nuclei	Adipose
17	chr5:178646200-178650800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:178647000-178650200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:178647400-178650000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:178647800-178650200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:178647800-178650200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:178648000-178650400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:178648400-178650600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:178648600-178654200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:178648800-178649600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:178649000-178649800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:178649000-178650200	Weak transcription	Spleen	Spleen
28	chr5:178649600-178650800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:178649600-178652800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:178649800-178650000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr5:178649800-178650200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:178649800-178651000	ZNF genes & repeats	Gastric	stomach
33	chr5:178649800-178652600	ZNF genes & repeats	Fetal Stomach	stomach
34	chr5:178650000-178652800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:178650200-178650600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:178650200-178651000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:178650200-178651000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr5:178650200-178651000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:178650200-178651000	ZNF genes & repeats	Fetal Brain Male	brain
40	chr5:178650200-178651000	ZNF genes & repeats	Fetal Kidney	kidney
41	chr5:178650200-178651200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr5:178650200-178651200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:178650200-178651200	ZNF genes & repeats	Fetal Lung	lung
44	chr5:178650200-178651200	ZNF genes & repeats	Pancreas	Pancrea
45	chr5:178650200-178652200	Strong transcription	Osteobl	bone
46	chr5:178650200-178652400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:178650200-178652400	ZNF genes & repeats	Spleen	Spleen
48	chr5:178650200-178652800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:178650400-178651000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:178650400-178651200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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