Variant report

Variant	nsv882773
Chromosome Location	chr5:118175640-118241854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118186238..118188903-chr5:118190266..118193143,3	MCF-7	breast:
2	chr5:118236988..118239581-chr5:118243045..118245142,2	K562	blood:
3	chr5:118140828..118142755-chr5:118221049..118222690,2	K562	blood:
4	chr5:118240942..118242563-chr5:118250072..118251996,2	MCF-7	breast:
5	chr5:118192775..118194666-chr5:118196580..118199051,2	K562	blood:
6	chr5:118192775..118194666-chr5:118196580..118199051,2	K562	blood:
7	chr5:118235222..118238389-chr5:118238793..118241310,3	K562	blood:
8	chr5:118111304..118112111-chr5:118225562..118226077,2	MCF-7	breast:
9	chr5:118235222..118238389-chr5:118238793..118241310,3	K562	blood:
10	chr5:118186238..118188903-chr5:118190266..118193143,3	MCF-7	breast:
11	chr5:118235181..118238389-chr5:118238793..118240582,3	K562	blood:
12	chr5:118235181..118238389-chr5:118238793..118240582,3	K562	blood:

No data

Extended variants
information (count: 2706 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2706 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17132673	chr5:118175640-118175641	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17132677	chr5:118175674-118175675	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184456112	chr5:118175806-118175807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529858753	chr5:118175812-118175813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369957116	chr5:118175821-118175822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187635645	chr5:118175829-118175830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192223899	chr5:118175905-118175906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184051753	chr5:118175917-118175918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73236915	chr5:118175924-118175925	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113418561	chr5:118176056-118176057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560509654	chr5:118176057-118176058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529573693	chr5:118176102-118176103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189867910	chr5:118176156-118176157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79853951	chr5:118176198-118176199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180727200	chr5:118176201-118176202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145077187	chr5:118176276-118176277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77054799	chr5:118176362-118176363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17144719	chr5:118176407-118176408	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547100793	chr5:118176415-118176416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567219382	chr5:118176416-118176417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536561578	chr5:118176418-118176419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556450769	chr5:118176428-118176429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138657424	chr5:118176432-118176433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538869951	chr5:118176448-118176449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79416548	chr5:118176452-118176453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578048740	chr5:118176494-118176495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111388652	chr5:118176509-118176510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372702001	chr5:118176510-118176511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540687019	chr5:118176549-118176550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553887027	chr5:118176566-118176567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372475951	chr5:118176592-118176593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573649012	chr5:118176604-118176605	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150816504	chr5:118176621-118176622	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201791904	chr5:118176627-118176628	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138333410	chr5:118176651-118176652	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200315964	chr5:118176659-118176660	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112939370	chr5:118176675-118176676	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142887093	chr5:118176676-118176677	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375418588	chr5:118176677-118176678	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562887709	chr5:118176690-118176691	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146085520	chr5:118176705-118176706	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112435002	chr5:118176706-118176707	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184651044	chr5:118176768-118176769	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140154641	chr5:118176772-118176773	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149822662	chr5:118176773-118176774	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144844733	chr5:118176782-118176783	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73236917	chr5:118176827-118176828	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs3813297	chr5:118176842-118176843	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs181961822	chr5:118176872-118176873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567154180	chr5:118176894-118176895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118143400-118178200	Weak transcription	Left Ventricle	heart
2	chr5:118158200-118176400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:118160200-118178200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:118160200-118180200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:118167800-118186400	Weak transcription	Liver	Liver
6	chr5:118169600-118180800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:118169600-118208600	Weak transcription	Aorta	Aorta
8	chr5:118172200-118188600	Weak transcription	Primary T cells from cord blood	blood
9	chr5:118175200-118177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:118175200-118177800	Weak transcription	Adipose Nuclei	Adipose
11	chr5:118175400-118186200	Weak transcription	Primary B cells from cord blood	blood
12	chr5:118176400-118177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:118176600-118176800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:118176800-118179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:118177200-118179000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:118177400-118180200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:118179400-118182000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:118179800-118180200	Enhancers	Fetal Heart	heart
19	chr5:118180200-118180400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:118180400-118180800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:118180800-118181800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:118181800-118185200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:118186400-118186600	ZNF genes & repeats	Liver	Liver
24	chr5:118187600-118188200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:118187600-118188200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:118188600-118189400	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr5:118188600-118189600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr5:118189400-118209400	Weak transcription	Primary T cells from cord blood	blood
29	chr5:118189600-118205400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:118189600-118210600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:118190400-118191000	Weak transcription	Fetal Intestine Small	intestine
32	chr5:118190600-118190800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:118190600-118191000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:118190600-118209000	Weak transcription	Left Ventricle	heart
35	chr5:118190800-118210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:118193200-118194200	Enhancers	NHEK	skin
37	chr5:118193400-118193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:118193400-118193800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr5:118193400-118193800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:118193400-118193800	Enhancers	Pancreas	Pancrea
41	chr5:118193400-118193800	Enhancers	HMEC	breast
42	chr5:118193400-118194000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:118193400-118194200	Enhancers	Fetal Heart	heart
44	chr5:118193600-118205600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:118193800-118197000	Weak transcription	HMEC	breast
46	chr5:118193800-118197600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:118193800-118209200	Weak transcription	Pancreas	Pancrea
48	chr5:118194000-118197600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:118194000-118210200	Weak transcription	Primary B cells from cord blood	blood
50	chr5:118194200-118197600	Weak transcription	NHEK	skin

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