Variant report

Variant	esv1805446
Chromosome Location	chr4:1386570-1391550
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:3)
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	chr4:1385707..1387814-chr4:1390928..1394108,3	K562	blood:
2	chr4:1391126..1393483-chr4:1395042..1398028,2	MCF-7	breast:
3	chr4:1385707..1387814-chr4:1390928..1394108,3	K562	blood:
4	chr4:1233604..1236548-chr4:1385152..1387591,2	K562	blood:
5	chr4:1391181..1394010-chr4:1399067..1401828,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NKX1-1-1	chr4:1388324-1388811	NONHSAT094711
2	lnc-NKX1-1-1	chr4:1389420-1389500	NONHSAT094711
3	lnc-NKX1-1-1	chr4:1389149-1389169	NONHSAT094711

No data

Variant related genes	Relation type
ENSG00000235608	chromatin interactions
ENSG00000159692	chromatin interactions

Extended variants
information (count: 501 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13142985	chr4:1386570-1386571	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570943933	chr4:1386595-1386596	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531850169	chr4:1386596-1386597	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550273147	chr4:1386636-1386637	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187593355	chr4:1386637-1386638	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs386670505	chr4:1386651-1386652	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs57037487	chr4:1386652-1386653	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs191529034	chr4:1386726-1386727	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115852454	chr4:1386757-1386758	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372371437	chr4:1386763-1386764	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562119911	chr4:1386811-1386812	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs80260420	chr4:1386817-1386818	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116883986	chr4:1386822-1386823	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183829460	chr4:1386829-1386830	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115533587	chr4:1386865-1386866	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542013484	chr4:1386912-1386913	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144640142	chr4:1386913-1386914	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540663945	chr4:1386931-1386932	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138537946	chr4:1386986-1386987	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528025073	chr4:1387031-1387032	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530710517	chr4:1387091-1387092	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149253046	chr4:1387112-1387113	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143438955	chr4:1387136-1387137	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187970775	chr4:1387258-1387259	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550309426	chr4:1387261-1387262	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552481649	chr4:1387267-1387268	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568608290	chr4:1387268-1387269	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570662658	chr4:1387273-1387274	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34299899	chr4:1387275-1387276	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs138091516	chr4:1387296-1387297	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11729037	chr4:1387298-1387299	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs565919398	chr4:1387308-1387309	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539734884	chr4:1387330-1387331	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191492581	chr4:1387334-1387335	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569834724	chr4:1387335-1387336	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536807641	chr4:1387347-1387348	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs60214947	chr4:1387359-1387360	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373631603	chr4:1387362-1387363	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200573341	chr4:1387363-1387364	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs202140218	chr4:1387370-1387371	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150646477	chr4:1387395-1387396	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369910677	chr4:1387405-1387406	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs140018705	chr4:1387520-1387521	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367711707	chr4:1387525-1387526	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs116254000	chr4:1387547-1387548	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142008275	chr4:1387566-1387567	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182563782	chr4:1387689-1387690	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116246757	chr4:1387754-1387755	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75492419	chr4:1387763-1387764	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6599308	chr4:1387780-1387781	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:63)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1341800-1387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:1341800-1388800	Weak transcription	Small Intestine	intestine
3	chr4:1346000-1386600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:1346000-1389200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:1360800-1389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:1368800-1389200	Weak transcription	NHDF-Ad	bronchial
7	chr4:1378400-1390400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:1378600-1389200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:1380200-1387200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:1380200-1387600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:1380200-1387800	Weak transcription	A549	lung
12	chr4:1380200-1388800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:1380400-1387600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:1380400-1387600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:1380400-1387600	Weak transcription	Gastric	stomach
16	chr4:1380400-1387600	Weak transcription	NHLF	lung
17	chr4:1380400-1390200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:1380400-1391000	Weak transcription	Right Ventricle	heart
19	chr4:1380400-1391200	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:1380400-1391400	Weak transcription	HepG2	liver
21	chr4:1380600-1390200	Weak transcription	Colonic Mucosa	Colon
22	chr4:1380800-1387600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:1380800-1387600	Weak transcription	Pancreas	Pancrea
24	chr4:1381000-1387800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:1381200-1386600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:1381200-1387800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:1381400-1387600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:1381400-1387800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:1381400-1388800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:1381600-1387600	Weak transcription	Brain Angular Gyrus	brain
31	chr4:1382200-1392200	Weak transcription	Psoas Muscle	Psoas
32	chr4:1382600-1389800	Weak transcription	HSMM	muscle
33	chr4:1382600-1390400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:1382800-1387800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:1382800-1388200	Weak transcription	Fetal Brain Male	brain
36	chr4:1382800-1388600	Weak transcription	HSMMtube	muscle
37	chr4:1382800-1390000	Weak transcription	NHEK	skin
38	chr4:1382800-1390200	Weak transcription	Osteobl	bone
39	chr4:1382800-1391200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:1383200-1386600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:1383200-1386600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr4:1383200-1386800	Weak transcription	Thymus	Thymus
43	chr4:1383200-1387400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:1383200-1387600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:1383200-1387600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:1383200-1387800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:1383200-1387800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:1384400-1391200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr4:1384800-1386800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr4:1384800-1386800	ZNF genes & repeats	Primary B cells from cord blood	blood

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