Variant report

Variant	nsv1006921
Chromosome Location	chr3:23121967-23155165
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23146246..23149153-chr3:23154916..23156444,2	MCF-7	breast:
2	chr3:23151746..23153503-chr3:23153998..23156456,2	MCF-7	breast:
3	chr3:23146246..23149153-chr3:23154916..23156444,2	MCF-7	breast:
4	chr3:23117260..23119971-chr3:23124072..23125615,2	K562	blood:
5	chr3:23137402..23139607-chr3:23140156..23142703,3	MCF-7	breast:
6	chr3:23137402..23139607-chr3:23140156..23142703,3	MCF-7	breast:
7	chr3:23151746..23153503-chr3:23153998..23156456,2	MCF-7	breast:
8	chr3:23116087..23118442-chr3:23134310..23136828,2	MCF-7	breast:
9	chr3:23154251..23156736-chr3:23157951..23160343,2	K562	blood:
10	chr3:22531582..22534400-chr3:23151408..23153228,2	K562	blood:
11	chr3:23126490..23128594-chr3:23135045..23137926,2	MCF-7	breast:
12	chr3:23126490..23128594-chr3:23135045..23137926,2	MCF-7	breast:
13	chr3:23138261..23141338-chr3:23143225..23146692,3	MCF-7	breast:
14	chr3:23138261..23141338-chr3:23143225..23146692,3	MCF-7	breast:

No data

Extended variants
information (count: 1152 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1152 , 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	rs1385545	chr3:23121967-23121968	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533570261	chr3:23121982-23121983	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs186333567	chr3:23121990-23121991	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566547468	chr3:23121994-23121995	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189996939	chr3:23121997-23121998	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs78104752	chr3:23122041-23122042	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs140898621	chr3:23122099-23122100	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75516409	chr3:23122162-23122163	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375946122	chr3:23122166-23122167	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556416895	chr3:23122173-23122174	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs181694724	chr3:23122188-23122189	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186329565	chr3:23122214-23122215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13090890	chr3:23122242-23122243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573258466	chr3:23122246-23122247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540633415	chr3:23122281-23122282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190829343	chr3:23122297-23122298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574073166	chr3:23122334-23122335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534467180	chr3:23122337-23122338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73821157	chr3:23122338-23122339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182294184	chr3:23122345-23122346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6809236	chr3:23122359-23122360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545550603	chr3:23122373-23122374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560014496	chr3:23122401-23122402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185067438	chr3:23122452-23122453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548581728	chr3:23122465-23122466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566966339	chr3:23122513-23122514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113348544	chr3:23122515-23122516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549838169	chr3:23122525-23122526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571482609	chr3:23122558-23122559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538474986	chr3:23122565-23122566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144805311	chr3:23122592-23122593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190271183	chr3:23122607-23122608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111729018	chr3:23122616-23122617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113293137	chr3:23122635-23122636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6809550	chr3:23122644-23122645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536779389	chr3:23122681-23122682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371010411	chr3:23122686-23122687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113739515	chr3:23122694-23122695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs118130313	chr3:23122707-23122708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545278113	chr3:23122737-23122738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113649524	chr3:23122751-23122752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370902110	chr3:23122753-23122754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560698077	chr3:23122798-23122799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112046103	chr3:23122801-23122802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75236009	chr3:23122822-23122823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141363282	chr3:23122823-23122824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111267004	chr3:23122879-23122880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544079690	chr3:23122880-23122881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150790453	chr3:23122888-23122889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371763175	chr3:23122905-23122906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23118600-23123000	Weak transcription	Aorta	Aorta
2	chr3:23119000-23122200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:23119200-23122000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:23119400-23122000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:23119400-23122000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr3:23119400-23122000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:23119600-23122200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:23120000-23122000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:23120800-23122000	Enhancers	Fetal Heart	heart
10	chr3:23121000-23122000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:23121000-23122000	Enhancers	Fetal Muscle Leg	muscle
12	chr3:23121000-23122000	Enhancers	Pancreas	Pancrea
13	chr3:23121000-23122000	Enhancers	HSMM	muscle
14	chr3:23121200-23122000	Active TSS	Duodenum Mucosa	Duodenum
15	chr3:23121200-23122000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr3:23121200-23122000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr3:23121200-23122000	Flanking Active TSS	A549	lung
18	chr3:23121200-23122000	Flanking Active TSS	HSMMtube	muscle
19	chr3:23121400-23122000	Enhancers	Fetal Lung	lung
20	chr3:23121400-23122000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr3:23121400-23122000	Flanking Active TSS	Hela-S3	cervix
22	chr3:23121600-23122000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:23121600-23122000	Active TSS	Primary hematopoietic stem cells	blood
24	chr3:23121600-23122000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:23121600-23122000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr3:23121600-23122200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:23121600-23125000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:23121800-23122000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:23121800-23122000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:23121800-23122000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:23121800-23122000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:23121800-23122000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:23121800-23122000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:23121800-23122000	Enhancers	Adipose Nuclei	Adipose
35	chr3:23121800-23122000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr3:23121800-23122000	Enhancers	HMEC	breast
37	chr3:23121800-23122000	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr3:23121800-23122000	Enhancers	NHEK	skin
39	chr3:23121800-23122200	Enhancers	Colon Smooth Muscle	Colon
40	chr3:23121800-23127200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:23122000-23122200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr3:23122000-23122200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:23122000-23122200	Enhancers	Stomach Smooth Muscle	stomach
44	chr3:23122000-23122200	Enhancers	A549	lung
45	chr3:23122000-23122200	Enhancers	Hela-S3	cervix
46	chr3:23122000-23122200	Enhancers	HSMMtube	muscle
47	chr3:23122000-23126200	Weak transcription	Fetal Lung	lung
48	chr3:23122000-23126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:23122200-23126400	Weak transcription	Hela-S3	cervix
50	chr3:23122200-23126600	Weak transcription	A549	lung

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