Variant report

Variant	nsv882481
Chromosome Location	chr5:100599227-100759281
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	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
2	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
3	chr5:100726516..100727169-chr5:101014073..101014596,2	MCF-7	breast:
4	chr5:100726013..100726646-chr5:100925875..100926725,2	MCF-7	breast:
5	chr5:99959582..99960217-chr5:100683267..100683815,2	MCF-7	breast:
6	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:
7	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
8	chr5:99983058..99983589-chr5:100699944..100700904,2	MCF-7	breast:
9	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
10	chr11:45378931..45379643-chr5:100700753..100701279,2	MCF-7	breast:
11	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
12	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:

No data

Extended variants
information (count: 2577 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2577 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2895703	chr5:100599227-100599228	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570875049	chr5:100599241-100599242	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564026554	chr5:100599258-100599259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150768409	chr5:100599275-100599276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368574188	chr5:100599293-100599294	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548970579	chr5:100599325-100599326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572795459	chr5:100599343-100599344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143566689	chr5:100599351-100599352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371412160	chr5:100599353-100599354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561716640	chr5:100599406-100599407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372216986	chr5:100599409-100599410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181558062	chr5:100599446-100599447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139170862	chr5:100599447-100599448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34631277	chr5:100599625-100599626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35551545	chr5:100599641-100599642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397881736	chr5:100599647-100599648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76120136	chr5:100599670-100599671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561672393	chr5:100599677-100599678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77436788	chr5:100599692-100599693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34116165	chr5:100599704-100599705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111400065	chr5:100599747-100599748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571088197	chr5:100599751-100599752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538859826	chr5:100599752-100599753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377251214	chr5:100599775-100599776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556941239	chr5:100599812-100599813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10064028	chr5:100599816-100599817	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562818211	chr5:100599888-100599889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185890823	chr5:100599899-100599900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200261034	chr5:100599904-100599905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191137861	chr5:100599946-100599947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182654365	chr5:100599957-100599958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373199818	chr5:100599963-100599964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11957957	chr5:100599980-100599981	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145236094	chr5:100599986-100599987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563784079	chr5:100599994-100599995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545261745	chr5:100600029-100600030	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531246341	chr5:100600031-100600032	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537016637	chr5:100600065-100600066	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187239349	chr5:100600104-100600105	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369360584	chr5:100600108-100600109	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191054111	chr5:100600133-100600134	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116680198	chr5:100600137-100600138	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528494488	chr5:100600179-100600180	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527942117	chr5:100600246-100600247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571727782	chr5:100600248-100600249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200117578	chr5:100600304-100600305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7703850	chr5:100600307-100600308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7737634	chr5:100600308-100600309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568026302	chr5:100600323-100600324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528868876	chr5:100600390-100600391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100597600-100600200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100599200-100600000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:100600000-100600200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:100600200-100600600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100600200-100601200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:100600600-100601600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:100601200-100601800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr5:100601600-100605400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:100607200-100607600	Enhancers	Dnd41	blood
10	chr5:100613400-100615000	Enhancers	HMEC	breast
11	chr5:100613800-100614000	Active TSS	A549	lung
12	chr5:100613800-100614200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:100613800-100614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:100613800-100614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:100614000-100614400	Flanking Active TSS	A549	lung
16	chr5:100614400-100615000	Enhancers	A549	lung
17	chr5:100614800-100615400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:100620600-100621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:100624800-100625200	Enhancers	Hela-S3	cervix
20	chr5:100627400-100640200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:100628000-100629000	Enhancers	Dnd41	blood
22	chr5:100640200-100640600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:100640600-100641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:100641200-100641400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:100641200-100642000	Enhancers	A549	lung
26	chr5:100642000-100642200	Flanking Active TSS	A549	lung
27	chr5:100642200-100642600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:100642200-100642600	Active TSS	A549	lung
29	chr5:100642200-100642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:100642600-100643000	Flanking Active TSS	A549	lung
31	chr5:100643000-100643600	Enhancers	A549	lung
32	chr5:100647400-100650800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:100647600-100648400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:100647600-100648400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:100650600-100651000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:100650800-100651000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:100651000-100652400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:100651000-100652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:100652400-100653400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:100652800-100653200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:100653200-100656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:100656200-100657000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:100656400-100657000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:100665200-100665800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:100666800-100667000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:100673000-100674200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:100673200-100674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:100673200-100674000	Enhancers	Fetal Lung	lung
49	chr5:100673800-100674000	Enhancers	Fetal Brain Male	brain
50	chr5:100674200-100674400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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