Variant report

Variant	nsv589944
Chromosome Location	chr3:22590688-22631593
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:22621236..22623407-chr3:22624012..22625741,2	K562	blood:
2	chr3:22605268..22606284-chr3:22928941..22929846,5	MCF-7	breast:
3	chr3:22605258..22606015-chr3:22726589..22727722,7	MCF-7	breast:
4	chr3:22606338..22606850-chr3:22713171..22713815,2	MCF-7	breast:
5	chr3:22605202..22606238-chr3:22726881..22727802,6	MCF-7	breast:
6	chr3:22605358..22606044-chr3:22713391..22713898,2	MCF-7	breast:
7	chr3:22605347..22606025-chr3:22726006..22726863,2	MCF-7	breast:
8	chr3:22605314..22606827-chr3:23001573..23002522,7	MCF-7	breast:
9	chr3:22605331..22605851-chr3:22928978..22929585,2	MCF-7	breast:
10	chr3:22605215..22605962-chr3:22950443..22950968,2	MCF-7	breast:
11	chr3:22621236..22623407-chr3:22624012..22625741,2	K562	blood:

No data

Extended variants
information (count: 1250 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555464984	chr3:22590805-22590806	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs187591438	chr3:22590840-22590841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538468011	chr3:22590858-22590859	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs556457669	chr3:22590881-22590882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115910934	chr3:22590890-22590891	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs545366689	chr3:22590900-22590901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs1463223	chr3:22590938-22590939	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs192972067	chr3:22590939-22590940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74770703	chr3:22590948-22590949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556705262	chr3:22590950-22590951	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560979368	chr3:22590959-22590960	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10510531	chr3:22591053-22591054	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543650840	chr3:22591123-22591124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs11708853	chr3:22591126-22591127	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564924643	chr3:22591157-22591158	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs202010098	chr3:22591237-22591238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111952483	chr3:22591239-22591240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1562740	chr3:22591240-22591241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547295320	chr3:22591241-22591242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367979564	chr3:22591248-22591249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559195198	chr3:22591265-22591266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146206536	chr3:22591302-22591303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548950614	chr3:22591313-22591314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567449753	chr3:22591326-22591327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539272681	chr3:22591348-22591349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75813038	chr3:22591385-22591386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550388470	chr3:22591390-22591391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572434485	chr3:22591396-22591397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541559175	chr3:22591427-22591428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80089744	chr3:22591441-22591442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75063968	chr3:22591445-22591446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539173945	chr3:22591493-22591494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184690830	chr3:22591509-22591510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13096688	chr3:22591531-22591532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148016871	chr3:22591553-22591554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554604109	chr3:22591554-22591555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13096828	chr3:22591562-22591563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543165781	chr3:22591563-22591564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141730668	chr3:22591570-22591571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188130038	chr3:22591577-22591578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540793410	chr3:22591583-22591584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192250098	chr3:22591586-22591587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543656025	chr3:22591593-22591594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184357625	chr3:22591644-22591645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549011809	chr3:22591645-22591646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35360031	chr3:22591671-22591672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561116057	chr3:22591703-22591704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150575488	chr3:22591749-22591750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531520043	chr3:22591753-22591754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550009612	chr3:22591871-22591872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22590800-22591200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:22591200-22596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:22595000-22595800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:22595800-22596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:22596800-22597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:22596800-22597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:22597000-22598200	Enhancers	Fetal Lung	lung
8	chr3:22597200-22597400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr3:22597400-22598400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:22597400-22598600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:22598400-22599800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:22598600-22599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:22599400-22604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:22599800-22604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:22604600-22606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:22604600-22606200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:22605600-22606000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:22605800-22606200	Enhancers	HMEC	breast
19	chr3:22606200-22610400	Weak transcription	HMEC	breast
20	chr3:22609800-22610000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:22610200-22611200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:22610400-22610600	Enhancers	HMEC	breast
23	chr3:22610600-22611000	Weak transcription	HMEC	breast
24	chr3:22611000-22611400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:22611000-22611400	Enhancers	HepG2	liver
26	chr3:22611000-22611400	Enhancers	HMEC	breast
27	chr3:22611200-22611600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:22622400-22622600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:22622400-22622800	Enhancers	HepG2	liver
30	chr3:22622600-22623000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:22622600-22626600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:22623200-22623800	Enhancers	Brain Angular Gyrus	brain
33	chr3:22623200-22624000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr3:22623200-22624000	Enhancers	Brain Substantia Nigra	brain
35	chr3:22623200-22624600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:22623200-22625000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:22623400-22623800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:22623400-22624000	Enhancers	Brain Cingulate Gyrus	brain
39	chr3:22623400-22624000	Enhancers	Brain Hippocampus Middle	brain
40	chr3:22623600-22623800	Enhancers	Rectal Smooth Muscle	rectum
41	chr3:22623600-22624000	Enhancers	Fetal Kidney	kidney
42	chr3:22624000-22624400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:22624000-22624600	Weak transcription	Brain Substantia Nigra	brain
44	chr3:22624400-22624800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:22624600-22624800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:22624600-22624800	Enhancers	Brain Substantia Nigra	brain
47	chr3:22624600-22625000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr3:22625800-22627000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:22626000-22626600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:22626200-22627800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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