Variant report

Variant	nsv1013898
Chromosome Location	chr2:211634275-211744687
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	chr2:211669822..211672544-chr2:211673084..211674833,2	K562	blood:
2	chr2:211676043..211678802-chr2:211682762..211685242,2	K562	blood:
3	chr2:211669822..211672544-chr2:211673084..211674833,2	K562	blood:
4	chr1:17231812..17233115-chr2:211669787..211670787,3	HCT-116	colon:
5	chr2:211644357..211645963-chr2:211649245..211651246,2	K562	blood:
6	chr2:211676043..211678802-chr2:211682762..211685242,2	K562	blood:
7	chr1:17231485..17232131-chr2:211669767..211670267,2	Hela-S3	cervix:
8	chr2:211644357..211645963-chr2:211649245..211651246,2	K562	blood:
9	chr17:57922098..57924197-chr2:211699892..211701526,2	MCF-7	breast:

No data

Extended variants
information (count: 1404 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1404 , 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	rs764637	chr2:211641003-211641004	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548640957	chr2:211641026-211641027	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs114767919	chr2:211641067-211641068	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs1990797	chr2:211641068-211641069	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551417041	chr2:211641091-211641092	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs139515236	chr2:211641127-211641128	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs112067260	chr2:211641167-211641168	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs207462829	chr2:211641176-211641177	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs367597871	chr2:211641183-211641184	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs187060908	chr2:211641187-211641188	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs12473390	chr2:211641193-211641194	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2058924	chr2:211641807-211641808	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150923533	chr2:211641815-211641816	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs185311920	chr2:211641817-211641818	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs575196798	chr2:211641883-211641884	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs139450440	chr2:211641995-211641996	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs190163514	chr2:211642026-211642027	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs543723071	chr2:211642038-211642039	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs35078145	chr2:211642039-211642040	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs531568297	chr2:211642040-211642041	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs573925044	chr2:211642046-211642047	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs571524795	chr2:211642099-211642100	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs551387171	chr2:211642117-211642118	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs528200860	chr2:211642157-211642158	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs571695715	chr2:211642166-211642167	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs576537722	chr2:211647429-211647430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542238058	chr2:211647458-211647459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186096133	chr2:211647480-211647481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146526109	chr2:211647484-211647485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534348120	chr2:211647485-211647486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189363195	chr2:211647507-211647508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140993658	chr2:211647509-211647510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564722945	chr2:211647514-211647515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74763492	chr2:211647522-211647523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149730286	chr2:211647537-211647538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563022769	chr2:211647582-211647583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573656722	chr2:211654803-211654804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34014440	chr2:211654852-211654853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542676879	chr2:211654868-211654869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567726828	chr2:211654924-211654925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562412146	chr2:211654931-211654932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535246440	chr2:211654941-211654942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572858355	chr2:211654967-211654968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545065193	chr2:211656407-211656408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565167438	chr2:211656410-211656411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143646036	chr2:211656433-211656434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377680850	chr2:211656434-211656435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111256707	chr2:211656437-211656438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56989850	chr2:211656438-211656439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1477202	chr2:211656442-211656443	Enhancers	n/a	n/a	Overlapped CNVs	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211641000-211641200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:211641800-211642200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:211641800-211642200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:211647400-211647600	Enhancers	Pancreas	Pancrea
5	chr2:211654800-211655000	Enhancers	Psoas Muscle	Psoas
6	chr2:211656400-211656800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:211656400-211657200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:211656600-211657000	Enhancers	Adipose Nuclei	Adipose
9	chr2:211656600-211657000	Enhancers	Psoas Muscle	Psoas
10	chr2:211656600-211657600	Enhancers	Fetal Heart	heart
11	chr2:211660200-211660400	Enhancers	Brain Hippocampus Middle	brain
12	chr2:211660200-211660600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:211660200-211660600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:211665000-211665600	Enhancers	Brain Germinal Matrix	brain
15	chr2:211666800-211673000	Weak transcription	Pancreas	Pancrea
16	chr2:211676600-211676800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:211676600-211677000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:211676800-211677800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:211677000-211683200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:211677800-211679800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:211678400-211679000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:211678600-211679200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:211679000-211679400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:211679400-211680400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:211682800-211683200	Weak transcription	Pancreas	Pancrea
26	chr2:211683200-211683400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:211683200-211683600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:211683200-211683600	ZNF genes & repeats	Pancreas	Pancrea
29	chr2:211683200-211684000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:211683400-211683800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:211698200-211698600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:211698200-211699000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:211704000-211704400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:211704400-211707400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:211707200-211707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:211707200-211707600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:211707200-211707800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr2:211707200-211707800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:211707200-211708000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:211707200-211708000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:211707400-211707800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:211707400-211707800	Enhancers	Brain Germinal Matrix	brain
43	chr2:211707400-211708000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:211707400-211708200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:211707800-211710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:211707800-211712400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:211708000-211711000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:211708200-211708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:211708800-211709000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:211710400-211710800	Enhancers	HUES48 Cell Line	embryonic stem cell

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