Variant report

Variant	nsv1028838
Chromosome Location	chr5:37538075-37583196
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:37551924..37555267-chr5:37556271..37558320,3	K562	blood:
2	chr5:37574620..37576476-chr5:37584938..37587005,2	K562	blood:
3	chr5:37541266..37543534-chr5:37545440..37547559,2	K562	blood:
4	chr5:37553408..37554969-chr5:37565315..37567049,2	K562	blood:
5	chr5:37572624..37576201-chr5:37577602..37583153,5	K562	blood:
6	chr5:37578232..37579991-chr5:37581584..37583169,2	MCF-7	breast:
7	chr5:37550616..37553710-chr5:37559318..37562633,4	K562	blood:
8	chr5:37559780..37563110-chr5:37563759..37567373,3	K562	blood:
9	chr5:37572624..37574156-chr5:37580736..37583153,2	K562	blood:
10	chr5:37550784..37553523-chr5:37560304..37561961,2	MCF-7	breast:
11	chr5:37550272..37552016-chr5:37552928..37554782,2	MCF-7	breast:
12	chr5:37539872..37542556-chr5:37548847..37552617,3	K562	blood:
13	chr5:37578232..37579991-chr5:37581584..37583169,2	MCF-7	breast:
14	chr5:37550616..37553710-chr5:37559318..37562633,4	K562	blood:
15	chr5:37543508..37545182-chr5:37552537..37554107,2	K562	blood:
16	chr5:37572624..37574156-chr5:37580736..37583153,2	K562	blood:
17	chr5:37536707..37538331-chr5:37538401..37541156,2	K562	blood:
18	chr5:37488881..37490858-chr5:37567347..37569058,2	K562	blood:
19	chr5:37378807..37379355-chr5:37554382..37555285,2	K562	blood:
20	chr5:37551824..37554603-chr5:37555317..37558093,4	K562	blood:
21	chr5:37569701..37572288-chr5:37579867..37582083,2	MCF-7	breast:
22	chr5:37569701..37572288-chr5:37579867..37582083,2	MCF-7	breast:
23	chr5:37559780..37563110-chr5:37563759..37567373,3	K562	blood:
24	chr5:37576360..37578315-chr5:37581420..37583139,2	K562	blood:
25	chr5:37536707..37538331-chr5:37538401..37541156,2	K562	blood:
26	chr5:37565296..37570234-chr5:37571928..37578079,8	K562	blood:
27	chr5:37412852..37413708-chr5:37554717..37555628,3	MCF-7	breast:
28	chr5:37565296..37570234-chr5:37571928..37578079,8	K562	blood:
29	chr5:37576360..37578315-chr5:37581420..37583139,2	K562	blood:
30	chr5:37553408..37554969-chr5:37565315..37567049,2	K562	blood:
31	chr5:37569124..37569718-chr8:118852447..118853416,2	MCF-7	breast:
32	chr5:37539872..37542556-chr5:37548847..37552617,3	K562	blood:
33	chr5:37550272..37552016-chr5:37552928..37554782,2	MCF-7	breast:
34	chr5:37551824..37554603-chr5:37555317..37558093,4	K562	blood:
35	chr5:37550784..37553523-chr5:37560304..37561961,2	MCF-7	breast:
36	chr5:37541266..37543534-chr5:37545440..37547559,2	K562	blood:
37	chr5:37551924..37555267-chr5:37556271..37558320,3	K562	blood:
38	chr5:37543508..37545182-chr5:37552537..37554107,2	K562	blood:
39	chr5:37572624..37576201-chr5:37577602..37583153,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000082068	chromatin interactions

Extended variants
information (count: 1488 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1488 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7724612	chr5:37538075-37538076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150327220	chr5:37538087-37538088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137874419	chr5:37538088-37538089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76859538	chr5:37538106-37538107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78009958	chr5:37538110-37538111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547792069	chr5:37538158-37538159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190509943	chr5:37538168-37538169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540106081	chr5:37538220-37538221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551799757	chr5:37538223-37538224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577863599	chr5:37538264-37538265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149464466	chr5:37538285-37538286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537241992	chr5:37538296-37538297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555966187	chr5:37538311-37538312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532228920	chr5:37538326-37538327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10057432	chr5:37538333-37538334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147109494	chr5:37538390-37538391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553323327	chr5:37538433-37538434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138598644	chr5:37538477-37538478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10057617	chr5:37538478-37538479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7728951	chr5:37538557-37538558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144102419	chr5:37538567-37538568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552051472	chr5:37538595-37538596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529942047	chr5:37538596-37538597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147288880	chr5:37538669-37538670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148775163	chr5:37538677-37538678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561893921	chr5:37538706-37538707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529380883	chr5:37538719-37538720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79182181	chr5:37538754-37538755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544046440	chr5:37538859-37538860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559746647	chr5:37538871-37538872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533371054	chr5:37538929-37538930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114572451	chr5:37538935-37538936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182509450	chr5:37538983-37538984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537782242	chr5:37538993-37538994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373749979	chr5:37539050-37539051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578236	chr5:37539060-37539061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs141454526	chr5:37539129-37539130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs490035	chr5:37539180-37539181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371262631	chr5:37539204-37539205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77835779	chr5:37539240-37539241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139245466	chr5:37539263-37539264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187161968	chr5:37539324-37539325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189642197	chr5:37539325-37539326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182672812	chr5:37539450-37539451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187938427	chr5:37539453-37539454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200265495	chr5:37539494-37539495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11952015	chr5:37539504-37539505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559881007	chr5:37539572-37539573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533506708	chr5:37539592-37539593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545057378	chr5:37539623-37539624	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37489000-37548400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr5:37496600-37541000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:37519600-37541000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:37519800-37553600	Weak transcription	Left Ventricle	heart
5	chr5:37520000-37540400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:37520000-37541600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:37520800-37538400	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:37521200-37541400	Weak transcription	Liver	Liver
9	chr5:37522400-37541000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:37523800-37553400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:37525600-37541600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:37530400-37538400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:37533000-37539400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:37533200-37541600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:37533400-37541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:37533400-37546000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:37534000-37540800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:37534200-37544200	Weak transcription	Gastric	stomach
19	chr5:37534200-37546000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:37534400-37538600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:37534400-37539200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:37534400-37539400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:37534400-37539400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:37534400-37539400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:37534400-37541200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:37534400-37541400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:37534400-37541800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:37534400-37543000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:37534400-37543000	Weak transcription	Pancreas	Pancrea
30	chr5:37534400-37544800	Weak transcription	Fetal Intestine Large	intestine
31	chr5:37534400-37550000	Weak transcription	Primary B cells from cord blood	blood
32	chr5:37534400-37551400	Weak transcription	Fetal Muscle Leg	muscle
33	chr5:37534400-37552200	Weak transcription	Fetal Stomach	stomach
34	chr5:37534400-37552600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:37534400-37554600	Weak transcription	Aorta	Aorta
36	chr5:37534400-37554800	Weak transcription	Lung	lung
37	chr5:37534400-37561600	Weak transcription	HSMMtube	muscle
38	chr5:37534400-37567800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:37534400-37573000	Weak transcription	Primary T cells from cord blood	blood
40	chr5:37534600-37539200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:37534600-37539200	Weak transcription	HMEC	breast
42	chr5:37534600-37539200	Weak transcription	NHEK	skin
43	chr5:37534800-37554600	Weak transcription	Fetal Intestine Small	intestine
44	chr5:37538400-37538600	Enhancers	Colon Smooth Muscle	Colon
45	chr5:37538400-37539600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:37538600-37538800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:37539200-37540000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:37539200-37540000	Enhancers	HMEC	breast
49	chr5:37539200-37540000	Enhancers	NHEK	skin
50	chr5:37539200-37540200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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