Variant report

Variant	nsv582369
Chromosome Location	chr2:85925667-85926142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85924610..85926408-chr2:85954711..85957464,2	K562	blood:
2	chr2:85917153..85919926-chr2:85924436..85926788,2	K562	blood:
3	chr2:85921436..85923058-chr2:85925193..85926829,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNLY-2	chr2:85925687-85925870	NONHSAT072043

Variant related genes	Relation type
ENSG00000115523	chromatin interactions
ENSG00000199687	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4240201	chr2:85925667-85925668	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4240202	chr2:85925680-85925681	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs367842637	chr2:85925714-85925715	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs201965432	chr2:85925738-85925739	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs573822223	chr2:85925750-85925751	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs7908	chr2:85925756-85925757	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs373273944	chr2:85925772-85925773	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs73943273	chr2:85925780-85925781	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185536414	chr2:85925797-85925798	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs568097693	chr2:85925817-85925818	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs552399862	chr2:85925818-85925819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs12845	chr2:85925848-85925849	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs141473710	chr2:85925886-85925887	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs143774293	chr2:85925888-85925889	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568141262	chr2:85925904-85925905	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs76223661	chr2:85925928-85925929	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs57942827	chr2:85926077-85926078	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs375992156	chr2:85926078-85926079	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375670861	chr2:85926079-85926080	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs397793937	chr2:85926080-85926081	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs146857468	chr2:85926089-85926090	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs140671294	chr2:85926093-85926094	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539650677	chr2:85926102-85926103	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs10192752	chr2:85926142-85926143	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:49)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85921800-85926400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:85922000-85931400	Weak transcription	Lung	lung
3	chr2:85922400-85928600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:85922800-85926800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:85923000-85927000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr2:85924400-85925800	Enhancers	Placenta	Placenta
7	chr2:85924600-85926000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:85924600-85926000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:85924600-85926000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:85924600-85928400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:85924600-85932200	Weak transcription	Spleen	Spleen
12	chr2:85924800-85926000	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:85925000-85926000	Enhancers	Fetal Thymus	thymus
14	chr2:85925400-85925800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:85925400-85925800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:85925400-85925800	Enhancers	Thymus	Thymus
17	chr2:85925400-85925800	Bivalent Enhancer	HepG2	liver
18	chr2:85925400-85926000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:85925600-85925800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:85925600-85926000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr2:85925600-85926000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr2:85925600-85926000	Active TSS	Primary B cells from cord blood	blood
23	chr2:85925600-85926200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:85925600-85926200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:85925600-85926600	Enhancers	K562	blood
26	chr2:85925600-85930400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:85925800-85926400	Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr2:85925800-85928000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:85925800-85928400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:85926000-85926200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr2:85926000-85928200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:85926000-85928200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:85926000-85931600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:85926000-85931600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:85926000-85932400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:85926000-85945200	Enhancers	Primary monocytes fromperipheralblood	blood

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