Variant report

Variant	nsv536523
Chromosome Location	chr3:24041166-24076110
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24040514..24042226-chr3:24050614..24053145,2	K562	blood:
2	chr3:24049320..24050973-chr3:24303692..24306625,2	K562	blood:
3	chr3:24070180..24073429-chr3:24081033..24085245,3	MCF-7	breast:
4	chr3:24047924..24049614-chr3:24052830..24055453,2	K562	blood:
5	chr3:24040514..24042226-chr3:24050614..24053145,2	K562	blood:
6	chr3:24060176..24062310-chr3:24299277..24301761,2	K562	blood:
7	chr3:24072921..24074631-chr3:24076259..24078493,2	K562	blood:
8	chr3:24047924..24049614-chr3:24052830..24055453,2	K562	blood:
9	chr17:56707874..56710684-chr3:24048496..24050034,2	MCF-7	breast:
10	chr3:24039886..24041425-chr3:24279180..24280348,12	MCF-7	breast:
11	chr3:23958954..23960491-chr3:24043369..24045131,2	MCF-7	breast:
12	chr3:24069756..24072152-chr3:24077955..24079926,2	K562	blood:
13	chr3:23961544..23965594-chr3:24039129..24042717,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions
ENSG00000174748	chromatin interactions

Extended variants
information (count: 1177 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1177 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527888736	chr3:24041229-24041230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111341843	chr3:24041235-24041236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547546489	chr3:24041291-24041292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556046773	chr3:24041297-24041298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562854534	chr3:24041334-24041335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577504989	chr3:24041356-24041357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543657772	chr3:24041368-24041369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567725703	chr3:24041393-24041394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188241586	chr3:24041407-24041408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571915560	chr3:24041441-24041442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115552752	chr3:24041444-24041445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192252620	chr3:24041459-24041460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369435249	chr3:24041463-24041464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35755171	chr3:24041560-24041561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551187550	chr3:24041630-24041631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7647562	chr3:24041772-24041773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147377618	chr3:24041781-24041782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538089856	chr3:24041794-24041795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558090702	chr3:24041819-24041820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114120810	chr3:24041852-24041853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566874027	chr3:24041918-24041919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118080152	chr3:24041991-24041992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139693498	chr3:24042000-24042001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537688747	chr3:24042041-24042042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36123730	chr3:24042073-24042074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35755253	chr3:24042084-24042085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577540550	chr3:24042141-24042142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531617009	chr3:24042216-24042217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538526721	chr3:24042226-24042227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553756962	chr3:24042234-24042235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572013888	chr3:24042253-24042254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542219214	chr3:24042261-24042262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561081321	chr3:24042285-24042286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576203193	chr3:24042291-24042292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149505732	chr3:24042330-24042331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530978309	chr3:24042420-24042421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550916181	chr3:24042429-24042430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183987945	chr3:24042478-24042479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553714165	chr3:24042489-24042490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9834767	chr3:24042525-24042526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552073446	chr3:24042556-24042557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560575828	chr3:24042558-24042559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527694135	chr3:24042559-24042560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187209757	chr3:24042618-24042619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17014013	chr3:24042639-24042640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144001293	chr3:24042678-24042679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113385131	chr3:24042685-24042686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148695845	chr3:24042734-24042735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370441587	chr3:24042754-24042755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142193156	chr3:24042757-24042758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24036000-24053400	Weak transcription	Psoas Muscle	Psoas
2	chr3:24036400-24043600	Weak transcription	Aorta	Aorta
3	chr3:24040400-24041200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:24040400-24041200	Enhancers	Adipose Nuclei	Adipose
5	chr3:24040400-24041200	Enhancers	Colon Smooth Muscle	Colon
6	chr3:24040600-24041200	Enhancers	Primary B cells from cord blood	blood
7	chr3:24040600-24041200	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:24040600-24041600	Enhancers	Brain Angular Gyrus	brain
9	chr3:24040600-24041600	Enhancers	Brain Hippocampus Middle	brain
10	chr3:24040800-24041200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:24040800-24041200	Enhancers	Primary hematopoietic stem cells	blood
12	chr3:24040800-24041200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:24040800-24041200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:24040800-24041200	Enhancers	Ovary	ovary
15	chr3:24040800-24041200	Enhancers	NHLF	lung
16	chr3:24040800-24041800	Enhancers	Fetal Lung	lung
17	chr3:24041000-24041200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:24041000-24041200	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr3:24041000-24041200	Enhancers	Brain Cingulate Gyrus	brain
20	chr3:24041000-24041200	Enhancers	Brain Germinal Matrix	brain
21	chr3:24041000-24041200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr3:24041000-24041200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:24041000-24041200	Enhancers	Brain Substantia Nigra	brain
24	chr3:24041000-24041400	Enhancers	NHDF-Ad	bronchial
25	chr3:24041000-24045600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:24041000-24045600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:24041200-24041400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:24043600-24043800	Enhancers	Rectal Smooth Muscle	rectum
29	chr3:24043600-24044200	Enhancers	Aorta	Aorta
30	chr3:24045600-24046000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:24045600-24046000	Enhancers	HMEC	breast
32	chr3:24045600-24046200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:24045600-24046400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:24045600-24046400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:24045600-24047600	Enhancers	NHEK	skin
36	chr3:24045800-24046200	Enhancers	GM12878-XiMat	blood
37	chr3:24046400-24051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:24046400-24060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:24047400-24047800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr3:24047600-24051800	Weak transcription	NHEK	skin
41	chr3:24051800-24052600	Enhancers	Hela-S3	cervix
42	chr3:24051800-24055000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:24051800-24055000	Enhancers	NHEK	skin
44	chr3:24052600-24053600	Flanking Active TSS	Hela-S3	cervix
45	chr3:24052800-24053600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:24052800-24053600	Enhancers	Placenta	Placenta
47	chr3:24052800-24053600	Enhancers	A549	lung
48	chr3:24053000-24053200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:24053000-24053200	Weak transcription	HMEC	breast
50	chr3:24053000-24053400	Enhancers	NHDF-Ad	bronchial

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