Variant report

Variant	nsv882772
Chromosome Location	chr5:118173127-118230640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118192775..118194666-chr5:118196580..118199051,2	K562	blood:
2	chr5:118186238..118188903-chr5:118190266..118193143,3	MCF-7	breast:
3	chr5:118111304..118112111-chr5:118225562..118226077,2	MCF-7	breast:
4	chr5:118186238..118188903-chr5:118190266..118193143,3	MCF-7	breast:
5	chr5:118192775..118194666-chr5:118196580..118199051,2	K562	blood:
6	chr5:118140828..118142755-chr5:118221049..118222690,2	K562	blood:

Extended variants
information (count: 2377 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2377 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10768	chr5:118173127-118173128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147299040	chr5:118173146-118173147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180990651	chr5:118173187-118173188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537752569	chr5:118173197-118173198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557642756	chr5:118173353-118173354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370868659	chr5:118173358-118173359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571160118	chr5:118173366-118173367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540081767	chr5:118173383-118173384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532491290	chr5:118173387-118173388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553277002	chr5:118173405-118173406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554192776	chr5:118173425-118173426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200760864	chr5:118173441-118173442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572923437	chr5:118173474-118173475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541532371	chr5:118173493-118173494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555357011	chr5:118173524-118173525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574846020	chr5:118173569-118173570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543801490	chr5:118173590-118173591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73234502	chr5:118173652-118173653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77265142	chr5:118173705-118173706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533040871	chr5:118173773-118173774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148781979	chr5:118173837-118173838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116984050	chr5:118173860-118173861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187000149	chr5:118173866-118173867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556628253	chr5:118173884-118173885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192341858	chr5:118173890-118173891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556852779	chr5:118173896-118173897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182862169	chr5:118173941-118173942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371004417	chr5:118173975-118173976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17144714	chr5:118173981-118173982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17144715	chr5:118174003-118174004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553554023	chr5:118174022-118174023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371604490	chr5:118174023-118174024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12654866	chr5:118174070-118174071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565591338	chr5:118174073-118174074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61189236	chr5:118174088-118174089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537076071	chr5:118174111-118174112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111515980	chr5:118174112-118174113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576832718	chr5:118174124-118174125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541266562	chr5:118174162-118174163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555217488	chr5:118174166-118174167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55821851	chr5:118174175-118174176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs140479907	chr5:118174240-118174241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369463489	chr5:118174246-118174247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543838417	chr5:118174263-118174264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557307636	chr5:118174264-118174265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76166124	chr5:118174269-118174270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186042316	chr5:118174299-118174300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190012122	chr5:118174304-118174305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35987544	chr5:118174352-118174353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529035651	chr5:118174369-118174370	Weak 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:197 , 50 per page) page: 1 2 3 4

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	chr5:118161600-118174600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:118161600-118175600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:118167800-118186400	Weak transcription	Liver	Liver
8	chr5:118169600-118180800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:118169600-118208600	Weak transcription	Aorta	Aorta
10	chr5:118171400-118175200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:118172200-118188600	Weak transcription	Primary T cells from cord blood	blood
12	chr5:118175200-118177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:118175200-118177800	Weak transcription	Adipose Nuclei	Adipose
14	chr5:118175400-118186200	Weak transcription	Primary B cells from cord blood	blood
15	chr5:118176400-118177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:118176600-118176800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:118176800-118179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:118177200-118179000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:118177400-118180200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:118179400-118182000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:118179800-118180200	Enhancers	Fetal Heart	heart
22	chr5:118180200-118180400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:118180400-118180800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:118180800-118181800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:118181800-118185200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:118186400-118186600	ZNF genes & repeats	Liver	Liver
27	chr5:118187600-118188200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:118187600-118188200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:118188600-118189400	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr5:118188600-118189600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr5:118189400-118209400	Weak transcription	Primary T cells from cord blood	blood
32	chr5:118189600-118205400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:118189600-118210600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:118190400-118191000	Weak transcription	Fetal Intestine Small	intestine
35	chr5:118190600-118190800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:118190600-118191000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:118190600-118209000	Weak transcription	Left Ventricle	heart
38	chr5:118190800-118210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:118193200-118194200	Enhancers	NHEK	skin
40	chr5:118193400-118193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:118193400-118193800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:118193400-118193800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:118193400-118193800	Enhancers	Pancreas	Pancrea
44	chr5:118193400-118193800	Enhancers	HMEC	breast
45	chr5:118193400-118194000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:118193400-118194200	Enhancers	Fetal Heart	heart
47	chr5:118193600-118205600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:118193800-118197000	Weak transcription	HMEC	breast
49	chr5:118193800-118197600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:118193800-118209200	Weak transcription	Pancreas	Pancrea

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