Variant report

Variant	nsv583009
Chromosome Location	chr2:126662415-126759423
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:126731154..126733896-chr2:126735870..126737640,3	K562	blood:
2	chr2:126660519..126663227-chr8:143544826..143547693,2	MCF-7	breast:
3	chr2:126719980..126721497-chr2:126723264..126725149,2	K562	blood:
4	chr2:126719980..126721497-chr2:126723264..126725149,2	K562	blood:
5	chr2:126694978..126697255-chr2:126706502..126708251,2	K562	blood:
6	chr2:126731154..126733896-chr2:126735870..126737640,3	K562	blood:
7	chr2:126694978..126697255-chr2:126706502..126708251,2	K562	blood:
8	chr17:57970199..57971707-chr2:126700098..126701738,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108423	chromatin interactions
ENSG00000181790	chromatin interactions
ENSG00000108443	chromatin interactions

Extended variants
information (count: 1399 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1399 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1378538	chr2:126662415-126662416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565407257	chr2:126662422-126662423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575673920	chr2:126662434-126662435	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192031920	chr2:126662490-126662491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75456446	chr2:126662532-126662533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376753938	chr2:126662537-126662538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13392421	chr2:126662541-126662542	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75068061	chr2:126662607-126662608	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183381009	chr2:126662632-126662633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74992155	chr2:126662635-126662636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559203590	chr2:126662649-126662650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528295956	chr2:126662682-126662683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13405932	chr2:126662685-126662686	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571384869	chr2:126662763-126662764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536756151	chr2:126662789-126662790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550603596	chr2:126662794-126662795	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567316763	chr2:126662796-126662797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554614299	chr2:126662797-126662798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553737818	chr2:126662801-126662802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567150597	chr2:126662941-126662942	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554448431	chr2:126662953-126662954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145787154	chr2:126662968-126662969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188066909	chr2:126662995-126662996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575755020	chr2:126663040-126663041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544386197	chr2:126663055-126663056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138442801	chr2:126663085-126663086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550069430	chr2:126663104-126663105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540209451	chr2:126663159-126663160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1455622	chr2:126663180-126663181	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529081413	chr2:126663404-126663405	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs553521205	chr2:126663406-126663407	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs10177305	chr2:126663436-126663437	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186850330	chr2:126663441-126663442	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs9308667	chr2:126663469-126663470	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554790270	chr2:126663516-126663517	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs192208234	chr2:126663517-126663518	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540293921	chr2:126663522-126663523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553759215	chr2:126663526-126663527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576779240	chr2:126663563-126663564	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545021219	chr2:126663593-126663594	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs565175664	chr2:126663610-126663611	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs530652239	chr2:126663660-126663661	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs143040653	chr2:126663667-126663668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs561037593	chr2:126663696-126663697	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs372361812	chr2:126663701-126663702	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529831723	chr2:126663728-126663729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs10189987	chr2:126663744-126663745	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566480578	chr2:126663774-126663775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs557747540	chr2:126663782-126663783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532134209	chr2:126663789-126663790	Active TSS	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126663400-126664000	Active TSS	Fetal Brain Male	brain
2	chr2:126684200-126684600	Enhancers	Liver	Liver
3	chr2:126687000-126687600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:126700400-126701200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:126700400-126701200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:126700600-126701200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:126709800-126710600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:126709800-126710600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:126710000-126710600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:126710000-126710600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:126712400-126716600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:126715200-126715400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:126715200-126717600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:126715400-126715600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr2:126715400-126717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:126715400-126717800	Enhancers	Fetal Heart	heart
17	chr2:126716200-126718000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:126716200-126718000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:126716400-126717800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr2:126716400-126717800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr2:126716600-126716800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr2:126716600-126717600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr2:126716600-126717600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr2:126716600-126717600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:126716600-126717800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:126716600-126717800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr2:126716600-126717800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr2:126716800-126717400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
29	chr2:126717000-126717600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:126717000-126717800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:126717400-126717600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:126717600-126717800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr2:126717600-126719000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:126717600-126721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:126717800-126719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:126717800-126719200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:126719000-126720000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:126719200-126719400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr2:126719200-126719400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:126719200-126719600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:126719200-126720000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:126719200-126720200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:126719400-126719600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:126719400-126720000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:126719600-126719800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:126719800-126720000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:126720000-126725200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:126720200-126727200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:126725000-126726200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:126725200-126726000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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