Variant report

Variant	nsv1005382
Chromosome Location	chr4:28157180-28403800
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:46)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
2	chr4:28372854..28374483-chr4:28376190..28379147,2	K562	blood:
3	chr4:28261426..28262170-chr4:28315490..28316400,4	MCF-7	breast:
4	chr4:28261444..28262300-chr4:28315346..28316480,3	MCF-7	breast:
5	chr4:28226927..28227768-chr4:28315429..28316121,2	MCF-7	breast:
6	chr4:28248668..28250669-chr4:28250991..28253691,2	MCF-7	breast:
7	chr4:28145656..28148352-chr4:28155077..28157282,2	MCF-7	breast:
8	chr4:28342479..28345187-chr4:28356107..28357849,2	MCF-7	breast:
9	chr4:28230365..28232143-chr4:28313890..28315487,2	MCF-7	breast:
10	chr4:28168268..28171137-chr4:28175534..28179626,3	MCF-7	breast:
11	chr4:28168107..28169683-chr4:28286032..28288156,2	MCF-7	breast:
12	chr4:28247773..28249306-chr4:28259873..28261517,2	MCF-7	breast:
13	chr4:28230365..28232143-chr4:28313890..28315487,2	MCF-7	breast:
14	chr4:28372854..28374483-chr4:28376190..28379147,2	K562	blood:
15	chr4:28247773..28249306-chr4:28259873..28261517,2	MCF-7	breast:
16	chr4:28261426..28262170-chr4:28315490..28316400,4	MCF-7	breast:
17	chr4:28226927..28227768-chr4:28315429..28316121,2	MCF-7	breast:
18	chr4:28250932..28252877-chr4:28258157..28260159,2	MCF-7	breast:
19	chr4:28261444..28262300-chr4:28315346..28316480,3	MCF-7	breast:
20	chr12:54610784..54611389-chr4:28303417..28303937,3	K562	blood:
21	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
22	chr4:28169150..28171197-chr4:28172039..28175865,3	MCF-7	breast:
23	chr4:28375818..28378318-chr4:28378628..28381458,2	MCF-7	breast:
24	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
25	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:
26	chr4:28375818..28378318-chr4:28378628..28381458,2	MCF-7	breast:
27	chr4:28172886..28174929-chr4:28176207..28178293,2	MCF-7	breast:
28	chr4:28185120..28186993-chr4:28190743..28192783,2	MCF-7	breast:
29	chr4:28168268..28171137-chr4:28175534..28179626,3	MCF-7	breast:
30	chr17:21448876..21451207-chr4:28392146..28394451,2	MCF-7	breast:
31	chr4:28398298..28400403-chr4:28402842..28404450,2	MCF-7	breast:
32	chr4:28185120..28186993-chr4:28190743..28192783,2	MCF-7	breast:
33	chr4:28168107..28169683-chr4:28286032..28288156,2	MCF-7	breast:
34	chr4:28227050..28227613-chr4:29133017..29133631,2	MCF-7	breast:
35	chr4:28172886..28174929-chr4:28176207..28178293,2	MCF-7	breast:
36	chr4:28342479..28345187-chr4:28356107..28357849,2	MCF-7	breast:
37	chr4:28169150..28171197-chr4:28172039..28175865,3	MCF-7	breast:
38	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:
39	chr4:28259807..28262144-chr4:28313456..28316016,3	MCF-7	breast:
40	chr4:28226335..28227253-chr4:29080709..29081499,3	MCF-7	breast:
41	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:
42	chr4:28248668..28250669-chr4:28250991..28253691,2	MCF-7	breast:
43	chr4:28169471..28172277-chr4:28176161..28178635,3	MCF-7	breast:
44	chr4:28250932..28252877-chr4:28258157..28260159,2	MCF-7	breast:
45	chr4:28259807..28262144-chr4:28313456..28316016,3	MCF-7	breast:
46	chr4:28169471..28172277-chr4:28176161..28178635,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCKAR-5	chr4:28394826-28394837	XLOC_003917
2	lnc-CCKAR-5	chr4:28389343-28389444	XLOC_003917
3	lnc-CCKAR-5	chr4:28363940-28364214	XLOC_003917
4	lnc-CCKAR-5	chr4:28364016-28364214	XLOC_003917
5	lnc-CCKAR-5	chr4:28372322-28372431	XLOC_003917
6	lnc-CCKAR-5	chr4:28372322-28372431	XLOC_003917

No data

Variant related genes	Relation type
ENSG00000250038	chromatin interactions
SLC37A2	miRNA target sites
MPHOSPH9	miRNA target sites
MPL	miRNA target sites
SLC37A3	miRNA target sites

Extended variants
information (count: 6782 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:6782 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530610896	chr4:28161049-28161050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184386812	chr4:28161097-28161098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28698302	chr4:28161108-28161109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189283498	chr4:28161122-28161123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549046158	chr4:28161133-28161134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529369850	chr4:28161136-28161137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1534293	chr4:28161145-28161146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182218133	chr4:28161175-28161176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535279880	chr4:28161180-28161181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567391331	chr4:28168022-28168023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535840652	chr4:28168030-28168031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552955338	chr4:28168040-28168041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573008368	chr4:28168046-28168047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11736141	chr4:28168074-28168075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558462243	chr4:28168117-28168118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538833010	chr4:28168122-28168123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181058594	chr4:28168131-28168132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185092241	chr4:28168138-28168139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544028916	chr4:28168152-28168153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115542406	chr4:28168171-28168172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188042476	chr4:28168188-28168189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542626188	chr4:28168194-28168195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397732458	chr4:28168238-28168239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559699038	chr4:28168242-28168243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397992734	chr4:28168251-28168252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74319698	chr4:28168288-28168289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73804295	chr4:28168300-28168301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372558524	chr4:28168352-28168353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116580485	chr4:28168354-28168355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114614890	chr4:28168364-28168365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143974938	chr4:28168376-28168377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531113981	chr4:28168386-28168387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187628452	chr4:28168412-28168413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532511784	chr4:28168469-28168470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567221856	chr4:28168484-28168485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191901455	chr4:28168494-28168495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377102875	chr4:28168602-28168603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546239879	chr4:28168607-28168608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556841184	chr4:28168679-28168680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552625861	chr4:28168718-28168719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147388637	chr4:28168761-28168762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183854409	chr4:28168777-28168778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575189490	chr4:28168793-28168794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186573017	chr4:28168832-28168833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7672064	chr4:28168839-28168840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145029820	chr4:28168854-28168855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548618717	chr4:28168876-28168877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79457088	chr4:28168883-28168884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76798837	chr4:28168885-28168886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190249413	chr4:28168891-28168892	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28161000-28161200	Enhancers	A549	lung
2	chr4:28168000-28170200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:28168600-28170200	Enhancers	HMEC	breast
4	chr4:28168600-28170400	Enhancers	Hela-S3	cervix
5	chr4:28168800-28169800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:28168800-28169800	Enhancers	A549	lung
7	chr4:28168800-28169800	Enhancers	NHEK	skin
8	chr4:28168800-28170200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:28169000-28169400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:28169200-28169800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:28169800-28176800	Weak transcription	A549	lung
12	chr4:28176800-28177000	Enhancers	A549	lung
13	chr4:28177000-28177800	Weak transcription	A549	lung
14	chr4:28177800-28178600	Enhancers	A549	lung
15	chr4:28178400-28179800	Enhancers	Hela-S3	cervix
16	chr4:28178600-28179600	Flanking Active TSS	A549	lung
17	chr4:28178800-28179400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:28178800-28179800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:28180800-28181400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:28204400-28204800	ZNF genes & repeats	Pancreas	Pancrea
21	chr4:28211000-28211400	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:28213200-28213400	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:28213200-28213600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:28213200-28214000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:28213400-28213600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:28213800-28215000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:28215000-28215400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:28215400-28223600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:28216400-28217400	Enhancers	Fetal Heart	heart
30	chr4:28216600-28217400	Enhancers	HSMMtube	muscle
31	chr4:28219000-28219400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:28223200-28223400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr4:28223200-28224200	Enhancers	Fetal Heart	heart
34	chr4:28223400-28224000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:28223600-28224200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:28224000-28224600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:28224200-28226600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr4:28224200-28228800	Weak transcription	Fetal Heart	heart
39	chr4:28224600-28227400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr4:28225600-28229600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:28226000-28226200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:28226200-28227600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:28226400-28227400	Enhancers	Brain Hippocampus Middle	brain
44	chr4:28226400-28227800	Enhancers	Brain Anterior Caudate	brain
45	chr4:28226600-28226800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr4:28226600-28226800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr4:28226600-28227400	Enhancers	Brain Substantia Nigra	brain
48	chr4:28226600-28228400	Enhancers	Brain Angular Gyrus	brain
49	chr4:28226800-28227200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:28226800-28227400	Enhancers	Brain Inferior Temporal Lobe	brain

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