Variant report

Variant	nsv598109
Chromosome Location	chr5:49988020-50058043
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:50048093..50049853-chr5:50051688..50054102,2	MCF-7	breast:
2	chr5:50016696..50017644-chr6:27798793..27799338,2	NB4	blood:
3	chr5:49961597..49964689-chr5:50010010..50013411,3	MCF-7	breast:
4	chr5:49979801..49982370-chr5:49986606..49988193,2	MCF-7	breast:
5	chr5:49963253..49964833-chr5:49994223..49996003,2	MCF-7	breast:
6	chr5:50020188..50022113-chr5:50033665..50035934,2	MCF-7	breast:
7	chr21:38935799..38937565-chr5:50040178..50042178,2	MCF-7	breast:
8	chr5:50047039..50047540-chr5:50059663..50060514,2	MCF-7	breast:
9	chr5:49951519..49954288-chr5:49991653..49994102,2	MCF-7	breast:
10	chr5:50048093..50049853-chr5:50051688..50054102,2	MCF-7	breast:
11	chr5:50006825..50008981-chr5:50044133..50046032,2	MCF-7	breast:
12	chr5:49991835..49994360-chr5:50001240..50003912,3	MCF-7	breast:
13	chr5:50020188..50022113-chr5:50033665..50035934,2	MCF-7	breast:
14	chr5:49966970..49969642-chr5:50045524..50047649,2	MCF-7	breast:
15	chr5:49991835..49994360-chr5:50001240..50003912,3	MCF-7	breast:
16	chr5:50028364..50030290-chr5:50032967..50035142,2	MCF-7	breast:
17	chr5:50006825..50008981-chr5:50044133..50046032,2	MCF-7	breast:
18	chr5:49986640..49989197-chr5:50027826..50030637,2	MCF-7	breast:
19	chr5:49962390..49964059-chr5:50032146..50034760,2	MCF-7	breast:
20	chr5:49986640..49989197-chr5:50027826..50030637,2	MCF-7	breast:
21	chr5:49989186..49991048-chr5:49992537..49995314,2	MCF-7	breast:
22	chr5:49995029..49996581-chr5:50034174..50037169,2	MCF-7	breast:
23	chr5:50028364..50030290-chr5:50032967..50035142,2	MCF-7	breast:
24	chr5:49961882..49965349-chr5:50045163..50048230,3	MCF-7	breast:
25	chr5:49991654..49993183-chr5:49998534..50000135,2	MCF-7	breast:
26	chr5:49995029..49996581-chr5:50034174..50037169,2	MCF-7	breast:
27	chr5:49991654..49993183-chr5:49998534..50000135,2	MCF-7	breast:
28	chr5:49989186..49991048-chr5:49992537..49995314,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151883	chromatin interactions
ENSG00000197914	chromatin interactions

Extended variants
information (count: 2465 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2465 , 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	rs12656298	chr5:49988020-49988021	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78305374	chr5:49988021-49988022	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559433253	chr5:49988052-49988053	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528522387	chr5:49988086-49988087	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551362853	chr5:49988113-49988114	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373380496	chr5:49988116-49988117	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375916342	chr5:49988148-49988149	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571611591	chr5:49988182-49988183	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2354535	chr5:49988183-49988184	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368981082	chr5:49988189-49988190	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573259767	chr5:49988202-49988203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371747430	chr5:49988227-49988228	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142954875	chr5:49988320-49988321	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567791769	chr5:49988369-49988370	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186848832	chr5:49988462-49988463	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147454281	chr5:49988516-49988517	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566576724	chr5:49988521-49988522	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10039639	chr5:49988593-49988594	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs558628258	chr5:49988622-49988623	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140239769	chr5:49988666-49988667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537781501	chr5:49988708-49988709	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554873444	chr5:49988737-49988738	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574608538	chr5:49988767-49988768	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559216424	chr5:49988800-49988801	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577798925	chr5:49988806-49988807	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145635247	chr5:49988834-49988835	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573050002	chr5:49988864-49988865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193224857	chr5:49988871-49988872	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184011467	chr5:49988873-49988874	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530912291	chr5:49988943-49988944	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61479216	chr5:49988990-49988991	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs561635459	chr5:49989013-49989014	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530370255	chr5:49989054-49989055	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547260988	chr5:49989084-49989085	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188603258	chr5:49989123-49989124	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13169433	chr5:49989144-49989145	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377635473	chr5:49989158-49989159	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552225432	chr5:49989216-49989217	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576125120	chr5:49989271-49989272	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572062879	chr5:49989293-49989294	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72753763	chr5:49989299-49989300	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111973260	chr5:49989326-49989327	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537866304	chr5:49989357-49989358	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554230357	chr5:49989391-49989392	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35956568	chr5:49989408-49989409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397883970	chr5:49989412-49989413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201369036	chr5:49989413-49989414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574682126	chr5:49989450-49989451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371359154	chr5:49989467-49989468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533834871	chr5:49989501-49989502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1479 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49968800-49990400	Weak transcription	Small Intestine	intestine
2	chr5:49976800-50000000	Weak transcription	Fetal Stomach	stomach
3	chr5:49977800-49990600	Weak transcription	Pancreas	Pancrea
4	chr5:49978200-49995000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:49979000-49995200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:49979400-50006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:49980800-49995000	Weak transcription	Thymus	Thymus
8	chr5:49981400-49992600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:49982600-49992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:49982800-49997000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:49983000-49998800	Weak transcription	Lung	lung
12	chr5:49983200-49994200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr5:49983400-50006800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:49984000-49988800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:49984200-49988200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:49984200-49988600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:49984800-49989000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:49986000-49988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:49986000-50006600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:49986600-49988400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:49986800-49989800	Weak transcription	Fetal Intestine Large	intestine
22	chr5:49987000-49988800	Weak transcription	HMEC	breast
23	chr5:49987000-49989400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:49987200-49989800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:49987200-49993200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:49987200-49994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:49987400-49989400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:49987400-49994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:49987400-49995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:49987600-49990600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:49987600-49991000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:49987600-49991800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:49987600-49995000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:49987600-50001600	Weak transcription	Dnd41	blood
35	chr5:49987800-49988200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:49987800-49988400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:49987800-49990000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:49987800-49990200	Enhancers	GM12878-XiMat	blood
39	chr5:49987800-49990600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr5:49987800-49995000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:49987800-49998200	Weak transcription	Primary B cells from cord blood	blood
42	chr5:49987800-49998800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:49988000-49988400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:49988000-49988400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:49988000-49988400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:49988000-49988600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:49988000-49989600	Enhancers	Primary T cells from cord blood	blood
48	chr5:49988000-49995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:49988200-49989200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:49988200-49992400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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