Variant report

Variant	nsv583015
Chromosome Location	chr2:127453301-127455404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127440013..127442980-chr2:127454337..127456567,2	K562	blood:
2	chr2:127452820..127454923-chr2:127455408..127457651,2	K562	blood:
3	chr2:127453953..127456073-chr2:127458939..127461273,3	K562	blood:

Variant related genes	Relation type
ENSG00000206963	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1968539	chr2:127453301-127453302	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570939761	chr2:127453310-127453311	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553203041	chr2:127453313-127453314	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13023891	chr2:127453323-127453324	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572549803	chr2:127453345-127453346	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1530148	chr2:127453386-127453387	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564672404	chr2:127453418-127453419	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139880291	chr2:127453458-127453459	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4538146	chr2:127453479-127453480	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372674472	chr2:127453485-127453486	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372622935	chr2:127453486-127453487	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149391424	chr2:127453497-127453498	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375129443	chr2:127453498-127453499	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377649195	chr2:127453503-127453504	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560942282	chr2:127453528-127453529	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370846367	chr2:127453534-127453535	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529857849	chr2:127453541-127453542	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115201071	chr2:127453543-127453544	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138310921	chr2:127453544-127453545	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200879714	chr2:127453545-127453546	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199573593	chr2:127453548-127453549	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189474640	chr2:127453562-127453563	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150219760	chr2:127453566-127453567	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149400883	chr2:127453576-127453577	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115178969	chr2:127453579-127453580	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143080607	chr2:127453585-127453586	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571586275	chr2:127453587-127453588	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139816143	chr2:127453588-127453589	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200062204	chr2:127453593-127453594	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151167334	chr2:127453600-127453601	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373784013	chr2:127453604-127453605	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551011574	chr2:127453612-127453613	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567759380	chr2:127453624-127453625	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149925576	chr2:127453627-127453628	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541336342	chr2:127453628-127453629	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201041475	chr2:127453631-127453632	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373759494	chr2:127453642-127453643	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1050967	chr2:127453664-127453665	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs28370000	chr2:127453701-127453702	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75996044	chr2:127453726-127453727	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367596353	chr2:127453742-127453743	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372419548	chr2:127453745-127453746	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28387232	chr2:127453774-127453775	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542203868	chr2:127453794-127453795	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555900068	chr2:127453803-127453804	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572617546	chr2:127453811-127453812	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375163778	chr2:127453838-127453839	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569307166	chr2:127453845-127453846	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575142822	chr2:127453858-127453859	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3191431	chr2:127453884-127453885	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
4	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:127442000-127456800	Weak transcription	Osteobl	bone
6	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
7	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:127445400-127456400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr2:127446000-127454600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:127446400-127453400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:127446400-127456200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:127446400-127456200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:127446600-127456600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
17	chr2:127447400-127455800	Strong transcription	Ovary	ovary
18	chr2:127447400-127456200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:127447400-127457000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:127447600-127456000	Strong transcription	Fetal Lung	lung
21	chr2:127447600-127456200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:127447600-127456200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:127447600-127456200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:127447600-127456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:127447600-127456800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:127448200-127456400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:127448400-127456200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:127448600-127455200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:127449000-127455800	Strong transcription	K562	blood
30	chr2:127449600-127456000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:127449800-127456600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:127450000-127453600	Weak transcription	Psoas Muscle	Psoas
33	chr2:127450000-127454200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:127450400-127453400	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:127450400-127456000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:127450400-127456200	Strong transcription	Aorta	Aorta
37	chr2:127450400-127456400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:127450600-127454400	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:127450600-127456600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:127450800-127453400	Strong transcription	Spleen	Spleen
41	chr2:127450800-127455600	Strong transcription	Primary B cells from cord blood	blood
42	chr2:127450800-127456000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:127450800-127456600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:127450800-127458200	Weak transcription	Small Intestine	intestine
45	chr2:127451000-127453400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:127451000-127454400	Strong transcription	Pancreas	Pancrea
47	chr2:127451000-127455200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:127451000-127455200	Strong transcription	Thymus	Thymus
49	chr2:127451000-127456200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:127451000-127456200	Strong transcription	NHLF	lung

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