Variant report

Variant	nsv882771
Chromosome Location	chr5:118170135-118230640
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118111304..118112111-chr5:118225562..118226077,2	MCF-7	breast:
2	chr5:118192775..118194666-chr5:118196580..118199051,2	K562	blood:
3	chr5:118192775..118194666-chr5:118196580..118199051,2	K562	blood:
4	chr5:118140828..118142755-chr5:118221049..118222690,2	K562	blood:
5	chr5:118166469..118169075-chr5:118169340..118171077,2	MCF-7	breast:
6	chr5:118156828..118159701-chr5:118169028..118171054,2	K562	blood:
7	chr5:118186238..118188903-chr5:118190266..118193143,3	MCF-7	breast:
8	chr5:118186238..118188903-chr5:118190266..118193143,3	MCF-7	breast:

No data

Extended variants
information (count: 2493 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2493 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17373179	chr5:118170135-118170136	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527973225	chr5:118170141-118170142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114214006	chr5:118170213-118170214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190112675	chr5:118170220-118170221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560430165	chr5:118170267-118170268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574072691	chr5:118170280-118170281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77875769	chr5:118170332-118170333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17164564	chr5:118170346-118170347	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550264681	chr5:118170358-118170359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59080744	chr5:118170368-118170369	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551622697	chr5:118170387-118170388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565144649	chr5:118170503-118170504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539968017	chr5:118170553-118170554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527832246	chr5:118170562-118170563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182040353	chr5:118170574-118170575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567289233	chr5:118170593-118170594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536328946	chr5:118170607-118170608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116408497	chr5:118170630-118170631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185590710	chr5:118170661-118170662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538945461	chr5:118170690-118170691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368601810	chr5:118170761-118170762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188685019	chr5:118170777-118170778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78043035	chr5:118170778-118170779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77836189	chr5:118170813-118170814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180697852	chr5:118170833-118170834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578119689	chr5:118170888-118170889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543077350	chr5:118170939-118170940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185502104	chr5:118170982-118170983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575986836	chr5:118170984-118170985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141339154	chr5:118170989-118170990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368694297	chr5:118170994-118170995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78030815	chr5:118171007-118171008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527968750	chr5:118171017-118171018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541297115	chr5:118171025-118171026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565680482	chr5:118171028-118171029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561511133	chr5:118171029-118171030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529768765	chr5:118171031-118171032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549807981	chr5:118171071-118171072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150807024	chr5:118171089-118171090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536140096	chr5:118171120-118171121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532193956	chr5:118171192-118171193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554398836	chr5:118171201-118171202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552195155	chr5:118171224-118171225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192201450	chr5:118171238-118171239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534899373	chr5:118171268-118171269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114886650	chr5:118171309-118171310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184042170	chr5:118171334-118171335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139013704	chr5:118171348-118171349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187466412	chr5:118171370-118171371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576123073	chr5:118171394-118171395	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:201 , 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	chr5:118160200-118171600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:118160200-118178200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:118160200-118180200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:118161600-118174600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:118161600-118175600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:118167800-118170800	Weak transcription	Psoas Muscle	Psoas
9	chr5:118167800-118186400	Weak transcription	Liver	Liver
10	chr5:118168000-118171400	Weak transcription	Ovary	ovary
11	chr5:118169200-118171400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:118169600-118180800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:118169600-118208600	Weak transcription	Aorta	Aorta
14	chr5:118171400-118175200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:118172200-118188600	Weak transcription	Primary T cells from cord blood	blood
16	chr5:118175200-118177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:118175200-118177800	Weak transcription	Adipose Nuclei	Adipose
18	chr5:118175400-118186200	Weak transcription	Primary B cells from cord blood	blood
19	chr5:118176400-118177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:118176600-118176800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:118176800-118179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:118177200-118179000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:118177400-118180200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:118179400-118182000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:118179800-118180200	Enhancers	Fetal Heart	heart
26	chr5:118180200-118180400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:118180400-118180800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:118180800-118181800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:118181800-118185200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:118186400-118186600	ZNF genes & repeats	Liver	Liver
31	chr5:118187600-118188200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:118187600-118188200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:118188600-118189400	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr5:118188600-118189600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr5:118189400-118209400	Weak transcription	Primary T cells from cord blood	blood
36	chr5:118189600-118205400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:118189600-118210600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:118190400-118191000	Weak transcription	Fetal Intestine Small	intestine
39	chr5:118190600-118190800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:118190600-118191000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:118190600-118209000	Weak transcription	Left Ventricle	heart
42	chr5:118190800-118210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:118193200-118194200	Enhancers	NHEK	skin
44	chr5:118193400-118193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:118193400-118193800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr5:118193400-118193800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:118193400-118193800	Enhancers	Pancreas	Pancrea
48	chr5:118193400-118193800	Enhancers	HMEC	breast
49	chr5:118193400-118194000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:118193400-118194200	Enhancers	Fetal Heart	heart

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