Variant report

Variant	nsv874371
Chromosome Location	chr2:78714978-78805852
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:38)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78748455..78750783-chr2:78766208..78769872,3	K562	blood:
2	chr2:78753315..78756204-chr2:78756434..78759227,3	K562	blood:
3	chr2:78747682..78749204-chr2:78751235..78753165,2	K562	blood:
4	chr2:78749283..78751187-chr2:78766195..78769118,2	K562	blood:
5	chr2:78753315..78756204-chr2:78756434..78759227,3	K562	blood:
6	chr2:78763390..78765848-chr2:78770837..78772654,2	K562	blood:
7	chr2:78758175..78760513-chr2:78766795..78770172,4	K562	blood:
8	chr2:78757382..78759632-chr2:78763770..78765631,2	K562	blood:
9	chr2:78767623..78771004-chr2:78771071..78774505,4	K562	blood:
10	chr2:78805460..78806996-chr2:78842740..78844663,2	K562	blood:
11	chr2:78753644..78755915-chr2:78762930..78764798,2	K562	blood:
12	chr2:78757382..78760241-chr2:78763266..78765631,3	K562	blood:
13	chr2:78760713..78763886-chr2:78766006..78769531,4	K562	blood:
14	chr2:78754724..78757697-chr2:78759967..78762678,2	K562	blood:
15	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
16	chr2:78763390..78765848-chr2:78770837..78772654,2	K562	blood:
17	chr2:78764342..78767175-chr2:78767388..78769753,3	K562	blood:
18	chr2:78764342..78767175-chr2:78767388..78769753,3	K562	blood:
19	chr2:78607954..78609567-chr2:78764622..78766807,2	K562	blood:
20	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
21	chr2:78760713..78763886-chr2:78766006..78769531,4	K562	blood:
22	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
23	chr2:78801958..78804161-chr2:78807594..78809953,2	K562	blood:
24	chr2:78747682..78749204-chr2:78751235..78753165,2	K562	blood:
25	chr2:78738806..78741655-chrX:153658032..153660466,2	MCF-7	breast:
26	chr2:78757382..78759632-chr2:78763770..78765631,2	K562	blood:
27	chr2:78748455..78750783-chr2:78766208..78769872,3	K562	blood:
28	chr2:78749283..78751187-chr2:78766195..78769118,2	K562	blood:
29	chr2:78758175..78760513-chr2:78766795..78770172,4	K562	blood:
30	chr2:78767623..78771004-chr2:78771071..78774505,4	K562	blood:
31	chr2:78757382..78760241-chr2:78763266..78765631,3	K562	blood:
32	chr2:78757746..78759593-chr2:78760863..78763022,2	K562	blood:
33	chr2:78637554..78639977-chr2:78766787..78768860,2	K562	blood:
34	chr2:78753644..78755915-chr2:78762930..78764798,2	K562	blood:
35	chr2:78519747..78522682-chr2:78785137..78786876,2	K562	blood:
36	chr2:78754724..78757697-chr2:78759967..78762678,2	K562	blood:
37	chr2:78757746..78759593-chr2:78760863..78763022,2	K562	blood:
38	chr2:78716026..78716644-chr5:124520515..124521066,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78768698-78769187	NONHSAT071846
2	lnc-LRRTM4-3	chr2:78714968-78715058	NONHSAT071835
3	lnc-LRRTM4-3	chr2:78768698-78769292	NONHSAT071835

No data

Variant related genes	Relation type
ENSG00000071553	chromatin interactions

Extended variants
information (count: 2558 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2558 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6761959	chr2:78714978-78714979	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558282426	chr2:78715001-78715002	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs576873692	chr2:78715007-78715008	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs539560205	chr2:78715078-78715079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552786658	chr2:78715112-78715113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572531338	chr2:78715125-78715126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192641306	chr2:78715148-78715149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184742731	chr2:78715166-78715167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561661876	chr2:78715171-78715172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376541077	chr2:78715188-78715189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544087675	chr2:78715190-78715191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1157602	chr2:78715200-78715201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138830423	chr2:78715210-78715211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552711736	chr2:78715231-78715232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564540709	chr2:78715237-78715238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188297835	chr2:78715253-78715254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112848935	chr2:78715388-78715389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192211549	chr2:78715422-78715423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528718106	chr2:78715452-78715453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184943258	chr2:78715470-78715471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544344157	chr2:78715513-78715514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538499197	chr2:78715524-78715525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550347652	chr2:78715544-78715545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557856496	chr2:78715560-78715561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189724222	chr2:78715561-78715562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571856114	chr2:78715580-78715581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142783171	chr2:78715586-78715587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17015392	chr2:78715645-78715646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569004100	chr2:78715713-78715714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536339961	chr2:78715748-78715749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535100828	chr2:78715785-78715786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376903472	chr2:78715795-78715796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554904883	chr2:78715806-78715807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574886617	chr2:78715818-78715819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544544266	chr2:78715859-78715860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557748437	chr2:78715866-78715867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546697185	chr2:78715887-78715888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577803848	chr2:78715911-78715912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199867719	chr2:78715923-78715924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2010470	chr2:78715938-78715939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs28439549	chr2:78715963-78715964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146579448	chr2:78715976-78715977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181221622	chr2:78716116-78716117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139112262	chr2:78716126-78716127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531604734	chr2:78716129-78716130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149357885	chr2:78716159-78716160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200752331	chr2:78716173-78716174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368572138	chr2:78716232-78716233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144674010	chr2:78716234-78716235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs932141	chr2:78716297-78716298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78683400-78742200	Weak transcription	HepG2	liver
2	chr2:78716600-78717400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:78716600-78718200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:78721600-78722800	Enhancers	K562	blood
5	chr2:78742200-78742800	Strong transcription	HepG2	liver
6	chr2:78742800-78749400	Weak transcription	HepG2	liver
7	chr2:78748200-78748600	Active TSS	K562	blood
8	chr2:78748600-78748800	Weak transcription	K562	blood
9	chr2:78748800-78749400	Enhancers	K562	blood
10	chr2:78749400-78750400	Enhancers	HepG2	liver
11	chr2:78750400-78752800	Weak transcription	HepG2	liver
12	chr2:78751800-78752000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:78752600-78753400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:78752800-78753200	Enhancers	HepG2	liver
15	chr2:78752800-78753400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:78753200-78753600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:78753200-78758800	Weak transcription	HepG2	liver
18	chr2:78753400-78759600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:78753600-78758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:78756200-78756400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:78756200-78756400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr2:78756600-78757800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:78757800-78758000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:78757800-78758200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:78757800-78758200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:78757800-78759200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr2:78757800-78759200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr2:78758000-78758400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:78758000-78758400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:78758200-78759200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:78758200-78759600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:78758400-78759200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:78758800-78759600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:78758800-78759800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:78758800-78760600	Enhancers	HepG2	liver
36	chr2:78759000-78761200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:78759200-78759400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:78759200-78759600	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:78759200-78759600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr2:78759200-78759800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:78759200-78761200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:78759200-78761200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:78759400-78759800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:78759400-78760400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:78759600-78760200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:78759600-78760200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:78759600-78760400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr2:78759600-78760400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr2:78759600-78760800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:78759800-78760200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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