Variant report

Variant	nsv874354
Chromosome Location	chr2:78061074-78117502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-8	chr2:78098667-78099271	ucscGeneNc_uc002snu_2
2	lnc-LRRTM4-3	chr2:78102106-78102188	NR_110288
3	lnc-LRRTM4-3	chr2:78066895-78067016	NR_110288
4	lnc-LRRTM4-3	chr2:78102058-78102188	NONHSAT071835
5	lnc-LRRTM4-8	chr2:78105961-78106058	ucscGeneNc_uc002snu_2

Extended variants
information (count: 1387 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1387 , 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	rs992870	chr2:78061074-78061075	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534454583	chr2:78061075-78061076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371281888	chr2:78061082-78061083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs375864948	chr2:78061106-78061107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572840293	chr2:78061107-78061108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs10197111	chr2:78061125-78061126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371290789	chr2:78061126-78061127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs187179157	chr2:78061165-78061166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs992869	chr2:78061180-78061181	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs564260755	chr2:78061210-78061211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs72911903	chr2:78061230-78061231	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113309400	chr2:78061239-78061240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540487647	chr2:78061241-78061242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs6732840	chr2:78061301-78061302	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115557436	chr2:78061319-78061320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569053501	chr2:78061321-78061322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs143847973	chr2:78061325-78061326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs992868	chr2:78061337-78061338	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs571768833	chr2:78061382-78061383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs116077273	chr2:78061390-78061391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554475513	chr2:78061404-78061405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs191195943	chr2:78061434-78061435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535476810	chr2:78061436-78061437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs146308306	chr2:78061464-78061465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201717979	chr2:78061465-78061466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575457976	chr2:78061478-78061479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544255323	chr2:78061493-78061494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs552702061	chr2:78061503-78061504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182526138	chr2:78061532-78061533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs1601653	chr2:78061559-78061560	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139349451	chr2:78061562-78061563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs1601652	chr2:78061575-78061576	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143273910	chr2:78061584-78061585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs28689121	chr2:78061607-78061608	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573591340	chr2:78061628-78061629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187137497	chr2:78061631-78061632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs72911908	chr2:78061638-78061639	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs28532997	chr2:78061656-78061657	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551819829	chr2:78061664-78061665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79545597	chr2:78061677-78061678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567028174	chr2:78061707-78061708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs547995873	chr2:78061725-78061726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568000217	chr2:78061736-78061737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs77600432	chr2:78061754-78061755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs144807722	chr2:78061783-78061784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs568799898	chr2:78061796-78061797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368313607	chr2:78061831-78061832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs207461898	chr2:78061854-78061855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs189987517	chr2:78061896-78061897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182928349	chr2:78061897-78061898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78060600-78063200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:78061200-78063200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr2:78061800-78063400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr2:78064800-78066000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:78065400-78066600	Enhancers	HepG2	liver
6	chr2:78065600-78066800	Enhancers	Fetal Intestine Large	intestine
7	chr2:78077000-78078600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:78078800-78079800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:78079800-78080200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:78080200-78080600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:78080600-78087000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:78083000-78085000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:78083200-78087200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:78085000-78085400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr2:78085000-78088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:78087200-78087400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:78087600-78087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:78087800-78089200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:78088600-78089000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:78088600-78089600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:78088600-78089600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:78088800-78089600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:78088800-78089600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:78088800-78089600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:78088800-78089600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:78089000-78089600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:78089200-78089600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:78089400-78089600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:78089600-78091000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:78089600-78091200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:78089600-78091200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:78089600-78093800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:78091000-78091400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:78091200-78091400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:78091200-78091600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:78091200-78091600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:78093800-78094000	Enhancers	Fetal Lung	lung
38	chr2:78093800-78094200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:78100200-78100600	Enhancers	Fetal Lung	lung
40	chr2:78100600-78102800	Weak transcription	Fetal Lung	lung
41	chr2:78101000-78101400	Enhancers	Colon Smooth Muscle	Colon
42	chr2:78102800-78104000	Enhancers	Fetal Lung	lung
43	chr2:78103400-78107800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:78105400-78105600	Enhancers	Pancreas	Pancrea

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