Variant report

Variant	esv3422044
Chromosome Location	chr5:70846621-70849169
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	chr5:70848453..70850965-chr5:70856159..70858159,2	K562	blood:

Extended variants
information (count: 153 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs552393804	chr5:70846670-70846671	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs189398864	chr5:70846678-70846679	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7444320	chr5:70846692-70846693	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs549988935	chr5:70846739-70846740	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs60977492	chr5:70846824-70846825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529581644	chr5:70846830-70846831	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs546984494	chr5:70846856-70846857	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs565540600	chr5:70846890-70846891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539476053	chr5:70846902-70846903	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574647261	chr5:70846925-70846926	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs543255874	chr5:70846929-70846930	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144215471	chr5:70846932-70846933	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565620631	chr5:70846952-70846953	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs199963439	chr5:70846954-70846955	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557586398	chr5:70846984-70846985	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569808141	chr5:70847005-70847006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140831205	chr5:70847049-70847050	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12520417	chr5:70847057-70847058	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs555636821	chr5:70847095-70847096	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573975106	chr5:70847098-70847099	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34526727	chr5:70847120-70847121	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376065349	chr5:70847129-70847130	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370382235	chr5:70847153-70847154	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541385459	chr5:70847158-70847159	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182003168	chr5:70847175-70847176	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186074031	chr5:70847192-70847193	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554088745	chr5:70847220-70847221	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs572358431	chr5:70847221-70847222	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs7447146	chr5:70847231-70847232	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs201320957	chr5:70847234-70847235	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376201622	chr5:70847312-70847313	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs564401191	chr5:70847336-70847337	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531724620	chr5:70847354-70847355	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs527994471	chr5:70847360-70847361	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371107388	chr5:70847365-70847366	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375440609	chr5:70847383-70847384	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs28497798	chr5:70847391-70847392	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368386317	chr5:70847411-70847412	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs181743763	chr5:70847414-70847415	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547691770	chr5:70847445-70847446	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs565632242	chr5:70847446-70847447	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532813677	chr5:70847465-70847466	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs551386911	chr5:70847480-70847481	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs569637993	chr5:70847488-70847489	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537185589	chr5:70847501-70847502	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs186295856	chr5:70847547-70847548	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs567473959	chr5:70847579-70847580	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs534875446	chr5:70847584-70847585	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552545657	chr5:70847592-70847593	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553009018	chr5:70847593-70847594	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
2	chr5:70820200-70857400	Weak transcription	Small Intestine	intestine
3	chr5:70822000-70847200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:70822600-70847400	Strong transcription	Dnd41	blood
5	chr5:70823200-70847200	Strong transcription	Primary T cells from cord blood	blood
6	chr5:70825200-70859600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:70825800-70869200	Weak transcription	Fetal Heart	heart
8	chr5:70827600-70847400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:70827600-70847400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:70827600-70864400	Strong transcription	Liver	Liver
11	chr5:70827800-70847400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:70828000-70847200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:70828000-70847600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:70829400-70847600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:70830000-70846800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:70830600-70847800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:70831000-70847200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr5:70831400-70847200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr5:70831400-70864600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr5:70833400-70846800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:70833400-70847200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:70833800-70847600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:70833800-70847800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:70834000-70871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:70834200-70862800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:70834400-70847400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:70834800-70846800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:70834800-70847200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:70835000-70846800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:70835000-70847400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:70835200-70846800	Strong transcription	NH-A	brain
32	chr5:70835200-70847200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:70835200-70847400	Strong transcription	Fetal Intestine Large	intestine
34	chr5:70835600-70847200	Strong transcription	Fetal Lung	lung
35	chr5:70835800-70847600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr5:70835800-70850400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:70836400-70847600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:70836800-70847200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:70837000-70846800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:70837000-70847400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:70837000-70848000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:70837200-70846800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:70837200-70847400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr5:70837400-70847200	Strong transcription	Primary B cells from cord blood	blood
45	chr5:70837400-70847400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:70837600-70846800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:70837800-70846800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:70837800-70847400	Strong transcription	Fetal Thymus	thymus
49	chr5:70837800-70861800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:70838000-70846800	Strong transcription	Brain Germinal Matrix	brain

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