Variant report

Variant	nsv598930
Chromosome Location	chr5:90258584-90303764
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90291219..90293493-chr5:90293813..90296656,2	K562	blood:
2	chr5:90289665..90292276-chr5:90332798..90334401,2	MCF-7	breast:
3	chr5:90277606..90280581-chr5:90677468..90680460,3	K562	blood:
4	chr5:90277567..90280732-chr5:90676978..90680706,5	MCF-7	breast:
5	chr5:90302255..90304078-chr5:90677660..90680127,2	MCF-7	breast:
6	chr5:90285303..90287497-chr5:90289027..90290587,2	K562	blood:
7	chr5:90293718..90295218-chr9:78240844..78243702,2	MCF-7	breast:
8	chr5:90275798..90277920-chr5:90279969..90281796,2	K562	blood:
9	chr5:90292452..90294883-chr5:90296824..90298635,2	K562	blood:
10	chr5:90292452..90294883-chr5:90296824..90298635,2	K562	blood:
11	chr5:90285303..90287497-chr5:90289027..90290587,2	K562	blood:
12	chr5:90230829..90232483-chr5:90277236..90279567,2	MCF-7	breast:
13	chr5:90277623..90280018-chr5:90280599..90282346,2	MCF-7	breast:
14	chr5:90270717..90274108-chr5:90274111..90277181,3	K562	blood:
15	chr5:90270717..90274108-chr5:90274111..90277181,3	K562	blood:
16	chr5:90258002..90260372-chr5:90677122..90679413,2	MCF-7	breast:
17	chr5:90277606..90279758-chr5:90678960..90681501,2	K562	blood:
18	chr5:90271284..90273506-chr5:90277558..90279978,2	K562	blood:
19	chr5:90291219..90293493-chr5:90293813..90296656,2	K562	blood:
20	chr5:90261974..90263559-chr5:90264503..90266718,2	MCF-7	breast:
21	chr5:90271284..90273506-chr5:90277558..90279978,2	K562	blood:
22	chr5:90275798..90277920-chr5:90279969..90281796,2	K562	blood:
23	chr5:90303269..90305084-chr5:90367689..90369952,2	K562	blood:
24	chr5:90281809..90283864-chr5:90676012..90678070,3	K562	blood:
25	chr5:90277623..90280018-chr5:90280599..90282346,2	MCF-7	breast:
26	chr5:90287058..90289338-chr5:90406662..90408469,2	K562	blood:
27	chr5:90294594..90296898-chr5:90306627..90308823,3	K562	blood:
28	chr5:90184114..90185772-chr5:90277640..90279396,2	K562	blood:
29	chr5:90261974..90263559-chr5:90264503..90266718,2	MCF-7	breast:
30	chr5:90303153..90305744-chr5:90722586..90725095,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113369	chromatin interactions

Extended variants
information (count: 1787 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1787 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12522571	chr5:90258584-90258585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568464532	chr5:90258643-90258644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537486968	chr5:90258714-90258715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189260698	chr5:90258764-90258765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577222288	chr5:90258765-90258766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs180885502	chr5:90258772-90258773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558434606	chr5:90258806-90258807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558588307	chr5:90258814-90258815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143458905	chr5:90258845-90258846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78364310	chr5:90258896-90258897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570617522	chr5:90258956-90258957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574397825	chr5:90258963-90258964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534484019	chr5:90259084-90259085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148227086	chr5:90259125-90259126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563314853	chr5:90259181-90259182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552781195	chr5:90259217-90259218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532073557	chr5:90259267-90259268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568311586	chr5:90259272-90259273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566723327	chr5:90259293-90259294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552285345	chr5:90259326-90259327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs10079044	chr5:90259332-90259333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7735354	chr5:90259339-90259340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115354256	chr5:90259380-90259381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568730133	chr5:90259403-90259404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537753665	chr5:90259409-90259410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184768305	chr5:90259415-90259416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570842481	chr5:90259436-90259437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539525429	chr5:90259474-90259475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189387006	chr5:90259564-90259565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571900270	chr5:90259580-90259581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534470494	chr5:90259651-90259652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs117130386	chr5:90259655-90259656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554020124	chr5:90259673-90259674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182036838	chr5:90259675-90259676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186067289	chr5:90259679-90259680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150775055	chr5:90259715-90259716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543713777	chr5:90259781-90259782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149538027	chr5:90259794-90259795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576801621	chr5:90259881-90259882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545579818	chr5:90259936-90259937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559534057	chr5:90259937-90259938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376990055	chr5:90260008-90260009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528207787	chr5:90260056-90260057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190833340	chr5:90260104-90260105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146018920	chr5:90260145-90260146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562290188	chr5:90260158-90260159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181103121	chr5:90260166-90260167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560124482	chr5:90260192-90260193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551292863	chr5:90260266-90260267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186383159	chr5:90260324-90260325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90230400-90265200	Weak transcription	K562	blood
2	chr5:90236800-90263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:90242600-90261000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:90253000-90265200	Weak transcription	Fetal Brain Female	brain
5	chr5:90257800-90261400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:90257800-90264200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:90258000-90258600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:90258000-90259000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:90258000-90261400	Enhancers	HUVEC	blood vessel
10	chr5:90258200-90262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:90258200-90263600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:90259200-90262000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:90260000-90265000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:90260200-90264400	Enhancers	Hela-S3	cervix
15	chr5:90260800-90264400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:90261000-90261600	Enhancers	Stomach Mucosa	stomach
17	chr5:90261000-90262200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:90261400-90262600	Weak transcription	HUVEC	blood vessel
19	chr5:90261400-90262800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:90261400-90263800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:90261400-90264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:90262000-90262800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr5:90262200-90265200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:90262400-90263800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:90262400-90265200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:90262600-90263200	Enhancers	HUVEC	blood vessel
27	chr5:90262800-90266200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr5:90262800-90267400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr5:90263200-90263400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:90263200-90264000	Flanking Active TSS	HUVEC	blood vessel
31	chr5:90263200-90264200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:90263200-90265400	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:90263400-90263600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:90263400-90263800	Enhancers	HSMM	muscle
35	chr5:90263400-90264000	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:90263400-90264200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:90263400-90264600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:90263600-90264000	Enhancers	Fetal Kidney	kidney
39	chr5:90263600-90264000	Enhancers	NH-A	brain
40	chr5:90263600-90264200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:90263600-90264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:90263800-90264000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:90263800-90266000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr5:90264000-90264400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:90264000-90264600	Enhancers	HUVEC	blood vessel
46	chr5:90264200-90265000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:90264200-90266600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr5:90264200-90266600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr5:90264400-90265000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:90264800-90265200	Weak transcription	H9 Cell Line	embryonic stem cell

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