Variant report

Variant	nsv965571
Chromosome Location	chr5:114874943-114878934
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	chr5:114877886..114879457-chr5:114935009..114937600,2	K562	blood:
2	chr5:114872131..114874195-chr5:114874384..114876871,2	MCF-7	breast:
3	chr5:114503892..114506743-chr5:114877227..114879366,2	K562	blood:
4	chr5:114764740..114766538-chr5:114878918..114880582,2	MCF-7	breast:
5	chr5:114870046..114871711-chr5:114873556..114876513,2	MCF-7	breast:
6	chr5:114708411..114710984-chr5:114878847..114880354,2	MCF-7	breast:
7	chr5:114878345..114880939-chr5:115175674..115177985,2	K562	blood:
8	chr5:114873536..114875419-chr5:114960010..114961720,2	K562	blood:
9	chr5:114855091..114857814-chr5:114877720..114879811,2	K562	blood:
10	chr5:114840582..114843514-chr5:114878687..114880300,2	K562	blood:
11	chr5:114630617..114632812-chr5:114878306..114880297,2	K562	blood:
12	chr5:114871294..114875752-chr5:114877507..114881029,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145780	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000145782	chromatin interactions
ENSG00000152503	chromatin interactions
ENSG00000164221	chromatin interactions
ENSG00000251201	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376730329	chr5:114875059-114875060	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529661252	chr5:114875093-114875094	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546022141	chr5:114875124-114875125	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs199624849	chr5:114875126-114875127	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs60640600	chr5:114875127-114875128	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376466531	chr5:114875179-114875180	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558761350	chr5:114875200-114875201	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113344312	chr5:114875239-114875240	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141861349	chr5:114875259-114875260	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182251841	chr5:114875281-114875282	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186489708	chr5:114875287-114875288	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532669516	chr5:114875302-114875303	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147087036	chr5:114875334-114875335	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs80178268	chr5:114875344-114875345	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113814246	chr5:114875417-114875418	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577315333	chr5:114875449-114875450	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545972364	chr5:114875472-114875473	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs60413296	chr5:114875475-114875476	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138504148	chr5:114875490-114875491	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555739129	chr5:114875578-114875579	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78150244	chr5:114875580-114875581	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542379952	chr5:114875597-114875598	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192918255	chr5:114875621-114875622	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184958389	chr5:114875623-114875624	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189797930	chr5:114875692-114875693	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73780317	chr5:114875701-114875702	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs114983196	chr5:114875734-114875735	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573287722	chr5:114875756-114875757	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs143093254	chr5:114875758-114875759	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373172233	chr5:114875802-114875803	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs17137963	chr5:114875830-114875831	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566192634	chr5:114875846-114875847	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs141134064	chr5:114875890-114875891	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371702693	chr5:114875918-114875919	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs376068448	chr5:114875932-114875933	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537340603	chr5:114875935-114875936	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557432415	chr5:114875978-114875979	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79860897	chr5:114875998-114875999	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539950128	chr5:114876051-114876052	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553213578	chr5:114876057-114876058	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573252625	chr5:114876193-114876194	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs36043124	chr5:114876195-114876196	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192965452	chr5:114876210-114876211	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570325783	chr5:114876239-114876240	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561897585	chr5:114876265-114876266	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575578374	chr5:114876292-114876293	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544491783	chr5:114876295-114876296	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563327088	chr5:114876307-114876308	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184441767	chr5:114876326-114876327	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139362179	chr5:114876354-114876355	Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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	16774939	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
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:114858800-114876200	Weak transcription	Fetal Stomach	stomach
4	chr5:114860800-114877200	Weak transcription	Colonic Mucosa	Colon
5	chr5:114861000-114878600	Weak transcription	Pancreas	Pancrea
6	chr5:114861000-114878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:114861000-114878800	Weak transcription	Spleen	Spleen
8	chr5:114861200-114875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:114861200-114878600	Weak transcription	Esophagus	oesophagus
10	chr5:114861400-114875400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:114861400-114877200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:114863600-114878600	Weak transcription	Gastric	stomach
13	chr5:114867800-114875600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:114868400-114878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:114868600-114875000	Strong transcription	HSMM	muscle
16	chr5:114869000-114875400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:114869200-114875600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:114869200-114876200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:114870000-114875400	Strong transcription	K562	blood
20	chr5:114870000-114876200	Strong transcription	Fetal Thymus	thymus
21	chr5:114870000-114877400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:114870200-114875200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:114870400-114875800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr5:114870600-114875400	Strong transcription	A549	lung
25	chr5:114870600-114875600	Strong transcription	NH-A	brain
26	chr5:114871000-114876400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:114871200-114875400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr5:114871200-114875800	Genic enhancers	Primary T cells from cord blood	blood
29	chr5:114871200-114879200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:114871600-114875400	Strong transcription	Osteobl	bone
31	chr5:114871600-114875600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr5:114871600-114875600	Genic enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:114871600-114875800	Strong transcription	Placenta	Placenta
34	chr5:114871600-114876600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr5:114871800-114875000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:114871800-114876000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
37	chr5:114872000-114875200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:114872000-114875800	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:114872200-114875200	Enhancers	Brain Hippocampus Middle	brain
40	chr5:114872200-114875400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:114872200-114875800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:114872200-114877400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr5:114872400-114876200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:114872400-114876600	Weak transcription	HSMMtube	muscle
45	chr5:114872400-114877000	Enhancers	Colon Smooth Muscle	Colon
46	chr5:114872600-114875400	Genic enhancers	Rectal Mucosa Donor 31	rectum
47	chr5:114872600-114875400	Genic enhancers	HUVEC	blood vessel
48	chr5:114872600-114879400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
49	chr5:114872800-114875200	Genic enhancers	HepG2	liver
50	chr5:114872800-114876400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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