Variant report

Variant	nsv1008054
Chromosome Location	chr2:211633148-211744687
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:211676043..211678802-chr2:211682762..211685242,2	K562	blood:
2	chr1:17231485..17232131-chr2:211669767..211670267,2	Hela-S3	cervix:
3	chr2:211676043..211678802-chr2:211682762..211685242,2	K562	blood:
4	chr2:211669822..211672544-chr2:211673084..211674833,2	K562	blood:
5	chr2:211669822..211672544-chr2:211673084..211674833,2	K562	blood:
6	chr1:17231812..17233115-chr2:211669787..211670787,3	HCT-116	colon:
7	chr17:57922098..57924197-chr2:211699892..211701526,2	MCF-7	breast:
8	chr2:211644357..211645963-chr2:211649245..211651246,2	K562	blood:
9	chr2:211644357..211645963-chr2:211649245..211651246,2	K562	blood:

No data

Extended variants
information (count: 1442 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1442 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10932358	chr2:211633148-211633149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578124294	chr2:211633155-211633156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538674052	chr2:211633194-211633195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367584472	chr2:211633249-211633250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116705072	chr2:211633250-211633251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569119853	chr2:211633337-211633338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576698331	chr2:211633338-211633339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538535764	chr2:211633390-211633391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554939352	chr2:211633398-211633399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144330010	chr2:211633466-211633467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540814426	chr2:211633480-211633481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147805850	chr2:211633501-211633502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10208743	chr2:211633505-211633506	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545273321	chr2:211633574-211633575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189711124	chr2:211633641-211633642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562513245	chr2:211633678-211633679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575205172	chr2:211633711-211633712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141109919	chr2:211633743-211633744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542129528	chr2:211633754-211633755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574253080	chr2:211633767-211633768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1558935	chr2:211633770-211633771	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547165355	chr2:211633771-211633772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180895742	chr2:211633781-211633782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146942332	chr2:211633865-211633866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115372511	chr2:211633871-211633872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569259398	chr2:211633876-211633877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377310527	chr2:211633883-211633884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537820056	chr2:211633908-211633909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548899588	chr2:211633924-211633925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568637822	chr2:211634015-211634016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185133180	chr2:211634056-211634057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189642891	chr2:211634079-211634080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181895964	chr2:211634111-211634112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73078186	chr2:211634122-211634123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186222866	chr2:211634140-211634141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576002838	chr2:211634188-211634189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190547956	chr2:211634199-211634200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368239300	chr2:211634200-211634201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs764637	chr2:211641003-211641004	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548640957	chr2:211641026-211641027	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs114767919	chr2:211641067-211641068	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs1990797	chr2:211641068-211641069	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551417041	chr2:211641091-211641092	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs139515236	chr2:211641127-211641128	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs112067260	chr2:211641167-211641168	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs207462829	chr2:211641176-211641177	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs367597871	chr2:211641183-211641184	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs187060908	chr2:211641187-211641188	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs12473390	chr2:211641193-211641194	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2058924	chr2:211641807-211641808	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211632600-211634200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:211632800-211633400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:211632800-211633600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:211633000-211633200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:211633000-211633600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:211633000-211633600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:211633200-211633400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:211633200-211633800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:211633800-211634000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:211641000-211641200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:211641800-211642200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:211641800-211642200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:211647400-211647600	Enhancers	Pancreas	Pancrea
14	chr2:211654800-211655000	Enhancers	Psoas Muscle	Psoas
15	chr2:211656400-211656800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:211656400-211657200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:211656600-211657000	Enhancers	Adipose Nuclei	Adipose
18	chr2:211656600-211657000	Enhancers	Psoas Muscle	Psoas
19	chr2:211656600-211657600	Enhancers	Fetal Heart	heart
20	chr2:211660200-211660400	Enhancers	Brain Hippocampus Middle	brain
21	chr2:211660200-211660600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:211660200-211660600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:211665000-211665600	Enhancers	Brain Germinal Matrix	brain
24	chr2:211666800-211673000	Weak transcription	Pancreas	Pancrea
25	chr2:211676600-211676800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:211676600-211677000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:211676800-211677800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:211677000-211683200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:211677800-211679800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:211678400-211679000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:211678600-211679200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:211679000-211679400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:211679400-211680400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:211682800-211683200	Weak transcription	Pancreas	Pancrea
35	chr2:211683200-211683400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:211683200-211683600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:211683200-211683600	ZNF genes & repeats	Pancreas	Pancrea
38	chr2:211683200-211684000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:211683400-211683800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:211698200-211698600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:211698200-211699000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:211704000-211704400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:211704400-211707400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:211707200-211707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:211707200-211707600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:211707200-211707800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:211707200-211707800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:211707200-211708000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:211707200-211708000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:211707400-211707800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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