Variant report

Variant	nsv1020899
Chromosome Location	chr5:151412785-151516788
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:151454167..151456163-chr5:151462520..151465246,3	K562	blood:
2	chr5:151443718..151445789-chr5:151449556..151451745,2	K562	blood:
3	chr5:151455699..151457769-chr5:151461152..151464254,4	MCF-7	breast:
4	chr5:151443718..151445789-chr5:151449556..151451745,2	K562	blood:
5	chr5:151424102..151427016-chr5:151427738..151430178,3	K562	blood:
6	chr5:151424102..151427016-chr5:151427854..151430178,2	K562	blood:
7	chr5:151455898..151457873-chr5:151461230..151462733,2	K562	blood:
8	chr5:151497548..151500233-chr5:151502295..151503821,2	MCF-7	breast:
9	chr5:151448044..151450792-chr5:151450881..151452825,2	MCF-7	breast:
10	chr5:151509815..151512281-chr5:151517345..151519719,2	MCF-7	breast:
11	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:
12	chr5:151491359..151493092-chr5:151503050..151505750,2	K562	blood:
13	chr5:151424102..151427016-chr5:151427854..151430178,2	K562	blood:
14	chr5:151150191..151152730-chr5:151495520..151497974,2	MCF-7	breast:
15	chr5:151491359..151493092-chr5:151503050..151505750,2	K562	blood:
16	chr5:151448044..151450792-chr5:151450881..151452825,2	MCF-7	breast:
17	chr5:151471064..151473858-chr5:151493966..151496756,2	MCF-7	breast:
18	chr5:151455699..151457769-chr5:151461152..151464254,4	MCF-7	breast:
19	chr5:151443903..151445789-chr5:151450245..151452999,2	K562	blood:
20	chr5:151497548..151500233-chr5:151502295..151503821,2	MCF-7	breast:
21	chr5:151471420..151474359-chr5:151488636..151491340,2	K562	blood:
22	chr5:151455898..151457873-chr5:151461230..151462733,2	K562	blood:
23	chr5:151484112..151485634-chr5:151524575..151526562,2	K562	blood:
24	chr5:151424102..151427016-chr5:151427738..151430178,3	K562	blood:
25	chr5:151443903..151445789-chr5:151450245..151452999,2	K562	blood:
26	chr5:151471064..151473858-chr5:151493966..151496756,2	MCF-7	breast:
27	chr5:151471420..151474359-chr5:151488636..151491340,2	K562	blood:
28	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:
29	chr5:151454167..151456163-chr5:151462520..151465246,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145907	chromatin interactions
ENSG00000177556	chromatin interactions

Extended variants
information (count: 2957 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2957 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs255469	chr5:151412785-151412786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529092421	chr5:151412816-151412817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs255470	chr5:151412861-151412862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565838003	chr5:151412862-151412863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372230051	chr5:151412875-151412876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375128333	chr5:151412876-151412877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199919099	chr5:151412877-151412878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539417624	chr5:151412887-151412888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551496796	chr5:151412918-151412919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191253913	chr5:151412958-151412959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552752104	chr5:151412969-151412970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183500777	chr5:151412987-151412988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188396042	chr5:151413015-151413016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs194270	chr5:151413033-151413034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556601800	chr5:151413043-151413044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564096241	chr5:151413047-151413048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13357313	chr5:151413048-151413049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35007156	chr5:151413068-151413069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35608978	chr5:151413086-151413087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536165234	chr5:151413102-151413103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141719947	chr5:151413112-151413113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572626930	chr5:151413119-151413120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376005632	chr5:151413173-151413174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563876916	chr5:151413195-151413196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150566560	chr5:151413196-151413197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373530360	chr5:151413309-151413310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183212683	chr5:151413310-151413311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561744771	chr5:151413380-151413381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187903104	chr5:151413399-151413400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111939877	chr5:151413419-151413420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191157098	chr5:151413533-151413534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533202586	chr5:151413562-151413563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144566560	chr5:151413571-151413572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570912259	chr5:151413573-151413574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147243039	chr5:151413602-151413603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184399239	chr5:151413603-151413604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140749658	chr5:151413633-151413634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142646328	chr5:151413640-151413641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141541931	chr5:151413641-151413642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199927531	chr5:151413642-151413643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201462921	chr5:151413643-151413644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149792916	chr5:151413657-151413658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554493355	chr5:151413662-151413663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145989853	chr5:151413687-151413688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570833564	chr5:151413718-151413719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539601368	chr5:151413722-151413723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557929939	chr5:151413741-151413742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575703595	chr5:151413756-151413757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543128043	chr5:151413758-151413759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555051882	chr5:151413759-151413760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Parkinson disease	21829596	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151411400-151414000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr5:151416000-151417800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:151417800-151418400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr5:151417800-151419400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr5:151417800-151419400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:151417800-151419400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:151417800-151419400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr5:151417800-151419600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr5:151417800-151419800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:151417800-151419800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr5:151417800-151420000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:151418000-151419200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:151418000-151419400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:151418000-151419800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr5:151418200-151419600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:151418400-151418800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr5:151418600-151419200	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:151418800-151419800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr5:151427600-151427800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr5:151427800-151431400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:151430800-151431000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr5:151430800-151431400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:151430800-151431800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:151431000-151431200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:151431000-151432000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:151431000-151432400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:151431000-151432400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:151431200-151431400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:151431200-151431800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:151431200-151432400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:151431400-151431600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr5:151431400-151431800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:151431400-151432200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:151431400-151432400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:151431400-151432400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:151431400-151432600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:151431400-151432800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:151431400-151432800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:151431400-151433000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:151431600-151431800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:151431600-151432200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:151431800-151432200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr5:151431800-151432200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr5:151431800-151432200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:151431800-151432400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:151431800-151432400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr5:151431800-151432400	Enhancers	Adipose Nuclei	Adipose
48	chr5:151432000-151432400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr5:151432200-151432400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:151432200-151432600	Enhancers	HUES64 Cell Line	embryonic stem cell

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