Variant report

Variant	nsv1007066
Chromosome Location	chr4:28001862-28131764
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:28035719..28037819-chr4:28054257..28056821,2	K562	blood:
2	chr4:28035719..28037819-chr4:28054257..28056821,2	K562	blood:
3	chr4:28052922..28055818-chr4:28058833..28061575,2	MCF-7	breast:
4	chr4:28099687..28101856-chr4:28105919..28107595,3	MCF-7	breast:
5	chr4:28066283..28068093-chr4:28071007..28073660,2	K562	blood:
6	chr4:28066283..28068093-chr4:28071007..28073660,2	K562	blood:
7	chr4:28099687..28101856-chr4:28105919..28107595,3	MCF-7	breast:
8	chr4:28052922..28055818-chr4:28058833..28061575,2	MCF-7	breast:

No data

Extended variants
information (count: 1132 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561419942	chr4:28002867-28002868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529719097	chr4:28002870-28002871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2192544	chr4:28002882-28002883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560158424	chr4:28002905-28002906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139684090	chr4:28002914-28002915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552254773	chr4:28002924-28002925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35655763	chr4:28002959-28002960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145258917	chr4:28002964-28002965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147188472	chr4:28002967-28002968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75941918	chr4:28003006-28003007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115748218	chr4:28003023-28003024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551837894	chr4:28003060-28003061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181435094	chr4:28003193-28003194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553113307	chr4:28003235-28003236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559718546	chr4:28003273-28003274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4692270	chr4:28003277-28003278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538754505	chr4:28003321-28003322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558616564	chr4:28003356-28003357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34849811	chr4:28003374-28003375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184730227	chr4:28003378-28003379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188308696	chr4:28003385-28003386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148754455	chr4:28003410-28003411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11721902	chr4:28003427-28003428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142079804	chr4:28003428-28003429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142340659	chr4:28003451-28003452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560193047	chr4:28003505-28003506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532106143	chr4:28003509-28003510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4692271	chr4:28003540-28003541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186493142	chr4:28003564-28003565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7657334	chr4:28003571-28003572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116094079	chr4:28003594-28003595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74869908	chr4:28003652-28003653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552531852	chr4:28003694-28003695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76326208	chr4:28003695-28003696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566565464	chr4:28003708-28003709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375321713	chr4:28003711-28003712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538643977	chr4:28003724-28003725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111697576	chr4:28003734-28003735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201655941	chr4:28003820-28003821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10939187	chr4:28003878-28003879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575317894	chr4:28003894-28003895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10939188	chr4:28003895-28003896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140428691	chr4:28003918-28003919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377648816	chr4:28003919-28003920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10939189	chr4:28003922-28003923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191165705	chr4:28003923-28003924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114927467	chr4:28003930-28003931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576962356	chr4:28003931-28003932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182288504	chr4:28003939-28003940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186957003	chr4:28003949-28003950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28002800-28005000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:28005000-28005400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:28005200-28006000	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:28005800-28006600	Enhancers	Brain Hippocampus Middle	brain
5	chr4:28005800-28007000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:28006000-28012400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:28006200-28006400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr4:28006400-28009200	Weak transcription	Brain Anterior Caudate	brain
9	chr4:28006600-28009400	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:28007000-28007400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:28007400-28007600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:28007600-28008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:28008600-28008800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:28008600-28009000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:28008600-28010200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:28008600-28010200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:28008800-28010200	Enhancers	Brain Substantia Nigra	brain
18	chr4:28009000-28010000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:28009000-28011400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:28009200-28009600	Enhancers	Brain Anterior Caudate	brain
21	chr4:28009400-28009600	Enhancers	Brain Hippocampus Middle	brain
22	chr4:28010000-28010200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:28010200-28011200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:28011200-28011400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:28011200-28012000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:28011400-28012800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:28012000-28012600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:28012400-28012600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:28012400-28012600	Enhancers	Brain Cingulate Gyrus	brain
30	chr4:28012400-28012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:28012400-28012800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:28012600-28012800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:28016000-28018600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:28018600-28019000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:28030400-28030600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:28030600-28031400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:28031400-28032200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:28069000-28069200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:28076800-28077600	Enhancers	Colon Smooth Muscle	Colon
40	chr4:28084000-28084800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:28084000-28085000	Enhancers	HMEC	breast
42	chr4:28084400-28085200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:28089400-28089800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:28092200-28092600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:28092800-28093200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:28094000-28095000	Enhancers	Hela-S3	cervix
47	chr4:28094400-28094800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:28106200-28108800	Enhancers	HepG2	liver
49	chr4:28114600-28114800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:28114800-28118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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