Variant report

Variant	nsv1032798
Chromosome Location	chr5:112392380-112408177
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:
2	chr5:112402187..112405327-chr5:112405857..112410029,4	K562	blood:
3	chr5:112395182..112396947-chr5:112408525..112410110,2	MCF-7	breast:
4	chr5:112393898..112396478-chr5:112407663..112409529,2	K562	blood:
5	chr5:112403827..112406035-chr5:112407847..112410916,3	K562	blood:
6	chr5:112400600..112402613-chr5:112406837..112408952,2	K562	blood:
7	chr5:112393898..112396478-chr5:112407663..112409529,2	K562	blood:
8	chr5:112404865..112407461-chr5:112436712..112439575,2	MCF-7	breast:
9	chr5:112398620..112400244-chr5:112402557..112404477,2	K562	blood:
10	chr5:112403827..112406035-chr5:112407847..112410916,3	K562	blood:
11	chr5:112400600..112402613-chr5:112406837..112408952,2	K562	blood:
12	chr5:112402187..112405327-chr5:112405857..112410029,4	K562	blood:
13	chr5:112387805..112389786-chr5:112405042..112406689,2	K562	blood:
14	chr5:112384421..112386665-chr5:112391243..112394084,2	MCF-7	breast:
15	chr5:112398620..112400244-chr5:112402557..112404477,2	K562	blood:

No data

Extended variants
information (count: 818 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:818 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115619541	chr5:112392380-112392381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548135968	chr5:112392391-112392392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577537640	chr5:112392395-112392396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538643306	chr5:112392409-112392410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567794251	chr5:112392417-112392418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11461704	chr5:112392428-112392429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397946339	chr5:112392438-112392439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569536235	chr5:112392445-112392446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150257738	chr5:112392485-112392486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4705760	chr5:112392495-112392496	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558369510	chr5:112392500-112392501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138864147	chr5:112392521-112392522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561103151	chr5:112392539-112392540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4705761	chr5:112392584-112392585	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544353122	chr5:112392612-112392613	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534470627	chr5:112392621-112392622	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs563017113	chr5:112392636-112392637	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs533136737	chr5:112392652-112392653	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368658848	chr5:112392724-112392725	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560410769	chr5:112392731-112392732	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs528019610	chr5:112392741-112392742	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7726899	chr5:112392744-112392745	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs143328044	chr5:112392755-112392756	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs538454080	chr5:112392802-112392803	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115117280	chr5:112392813-112392814	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571326823	chr5:112392824-112392825	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538589897	chr5:112392855-112392856	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553848225	chr5:112392856-112392857	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572358659	chr5:112392871-112392872	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs536581494	chr5:112392876-112392877	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7727635	chr5:112392900-112392901	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs543614514	chr5:112392902-112392903	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562796016	chr5:112392994-112392995	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs578084293	chr5:112393003-112393004	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs544992400	chr5:112393006-112393007	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147528227	chr5:112393050-112393051	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs527956539	chr5:112393054-112393055	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs554974247	chr5:112393082-112393083	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs181001070	chr5:112393093-112393094	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs576354504	chr5:112393148-112393149	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373427021	chr5:112393201-112393202	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375753709	chr5:112393202-112393203	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5870528	chr5:112393203-112393204	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80343490	chr5:112393273-112393274	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565334719	chr5:112393295-112393296	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6892724	chr5:112393300-112393301	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4235785	chr5:112393327-112393328	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571249417	chr5:112393331-112393332	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367851297	chr5:112393348-112393349	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372059178	chr5:112393349-112393350	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
3	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112370600-112396600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:112371600-112394200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:112372800-112396800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:112373000-112398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:112373200-112399000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:112375000-112402600	Weak transcription	Pancreas	Pancrea
12	chr5:112379600-112399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
14	chr5:112383200-112409400	Strong transcription	Liver	Liver
15	chr5:112383400-112395200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:112383600-112394200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:112383800-112393000	Weak transcription	Brain Germinal Matrix	brain
18	chr5:112383800-112394000	Weak transcription	Fetal Thymus	thymus
19	chr5:112384000-112393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:112384200-112392600	Weak transcription	Fetal Kidney	kidney
22	chr5:112384200-112393000	Weak transcription	Fetal Brain Male	brain
23	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:112384600-112398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:112384600-112398800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:112384800-112399000	Weak transcription	Aorta	Aorta
27	chr5:112386000-112397200	Weak transcription	Fetal Heart	heart
28	chr5:112386400-112394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:112386600-112393000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:112386800-112394400	Weak transcription	Brain Anterior Caudate	brain
31	chr5:112386800-112395200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:112387200-112394400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:112387200-112395000	Weak transcription	Brain Angular Gyrus	brain
34	chr5:112387400-112394000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr5:112387600-112394600	Weak transcription	HSMMtube	muscle
36	chr5:112388200-112394600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:112388400-112398800	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:112388600-112394000	Weak transcription	HUVEC	blood vessel
39	chr5:112388600-112394200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:112388600-112394200	Weak transcription	HMEC	breast
41	chr5:112388600-112394400	Weak transcription	NH-A	brain
42	chr5:112388600-112394600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:112388600-112394600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:112388600-112397000	Weak transcription	NHLF	lung
45	chr5:112388600-112397200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:112388800-112402400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:112389000-112392600	Weak transcription	Right Atrium	heart
48	chr5:112389000-112393000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:112389200-112392800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:112389400-112394200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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