Variant report

Variant	nsv874355
Chromosome Location	chr2:78341245-78434830
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78347733..78349406-chr2:78351881..78353903,2	K562	blood:
2	chr17:59624355..59624932-chr2:78345304..78345966,2	MCF-7	breast:
3	chr2:78347906..78350697-chr2:78350756..78353381,2	K562	blood:
4	chr2:78347906..78350697-chr2:78350756..78353381,2	K562	blood:
5	chr2:78347733..78349406-chr2:78351881..78353903,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-8	chr2:78371022-78371323	ucscGeneNc_uc002snu_2
2	lnc-REG3G-3	chr2:78354625-78354877	XLOC_001543

No data

Extended variants
information (count: 1611 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1611 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542635418	chr2:78345400-78345401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562800538	chr2:78345446-78345447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532022269	chr2:78345453-78345454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55790152	chr2:78345488-78345489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11891173	chr2:78345506-78345507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145229856	chr2:78345531-78345532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12616055	chr2:78345570-78345571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188160937	chr2:78345595-78345596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548817858	chr2:78345597-78345598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72819016	chr2:78345599-78345600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561600994	chr2:78345629-78345630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11891218	chr2:78345640-78345641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538142822	chr2:78345652-78345653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs137859825	chr2:78345655-78345656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76967685	chr2:78345680-78345681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540071112	chr2:78345763-78345764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369782199	chr2:78345783-78345784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573799935	chr2:78345877-78345878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542752050	chr2:78345890-78345891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562538475	chr2:78345911-78345912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576386509	chr2:78345935-78345936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545667294	chr2:78345981-78345982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562416803	chr2:78345996-78345997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565452551	chr2:78345997-78345998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78582499	chr2:78346007-78346008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373164859	chr2:78346020-78346021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527854468	chr2:78346062-78346063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370490756	chr2:78346086-78346087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115848219	chr2:78346101-78346102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560247904	chr2:78346131-78346132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13339854	chr2:78346133-78346134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547982357	chr2:78346188-78346189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560811945	chr2:78346192-78346193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144853506	chr2:78346198-78346199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114730266	chr2:78346683-78346684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75229281	chr2:78346689-78346690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370407525	chr2:78346690-78346691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578089750	chr2:78346691-78346692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397871583	chr2:78346700-78346701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10208377	chr2:78346731-78346732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568017273	chr2:78346752-78346753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538981283	chr2:78347447-78347448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116458390	chr2:78347483-78347484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72819018	chr2:78347516-78347517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189458252	chr2:78347537-78347538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190461311	chr2:78351622-78351623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10201576	chr2:78351639-78351640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs545197854	chr2:78351647-78351648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569060919	chr2:78351703-78351704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183408097	chr2:78351734-78351735	Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78345400-78345800	Enhancers	HSMM	muscle
2	chr2:78345600-78346200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:78346600-78346800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:78347400-78347600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:78351600-78356000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:78352800-78353000	Enhancers	Fetal Muscle Leg	muscle
7	chr2:78352800-78353000	Enhancers	Pancreas	Pancrea
8	chr2:78353000-78354600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:78353000-78357600	Weak transcription	Pancreas	Pancrea
10	chr2:78353200-78353400	Enhancers	HSMMtube	muscle
11	chr2:78353200-78354600	Enhancers	HSMM	muscle
12	chr2:78353400-78354400	Weak transcription	HSMMtube	muscle
13	chr2:78354400-78354600	Enhancers	Brain Anterior Caudate	brain
14	chr2:78354400-78354800	Enhancers	Brain Hippocampus Middle	brain
15	chr2:78354400-78354800	Enhancers	HSMMtube	muscle
16	chr2:78354600-78355000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:78354600-78355000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:78354600-78355000	Enhancers	Brain Angular Gyrus	brain
19	chr2:78354600-78355000	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr2:78354600-78355000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:78354600-78355000	Enhancers	Brain Substantia Nigra	brain
22	chr2:78354600-78355000	Enhancers	Fetal Muscle Leg	muscle
23	chr2:78354800-78355000	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr2:78355000-78355400	Enhancers	Brain Hippocampus Middle	brain
25	chr2:78355000-78355800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:78355000-78359600	Weak transcription	Brain Substantia Nigra	brain
27	chr2:78355800-78356000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:78357600-78357800	Enhancers	Pancreas	Pancrea
29	chr2:78359600-78360200	Active TSS	Brain Hippocampus Middle	brain
30	chr2:78359600-78360200	Active TSS	Brain Substantia Nigra	brain
31	chr2:78360000-78360400	Active TSS	Brain Cingulate Gyrus	brain
32	chr2:78360000-78360400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:78360200-78360400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr2:78371800-78372800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:78372600-78374000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:78372800-78374800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:78374400-78374600	Active TSS	Spleen	Spleen
38	chr2:78374400-78374800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:78374400-78375000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:78374600-78374800	Flanking Active TSS	Spleen	Spleen
41	chr2:78385400-78385800	Enhancers	Brain Substantia Nigra	brain
42	chr2:78385600-78386400	Enhancers	Brain Hippocampus Middle	brain
43	chr2:78389000-78389400	Active TSS	Hela-S3	cervix
44	chr2:78389000-78390200	Enhancers	HepG2	liver
45	chr2:78402600-78403400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:78402800-78403200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:78402800-78403200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:78403200-78408200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:78405000-78405200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:78408000-78408600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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