Variant report

Variant	esv2760754
Chromosome Location	chr3:139144615-139164874
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:18)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:139140366..139142053-chr3:139144253..139146532,2	K562	blood:
2	chr3:139147032..139147988-chr3:139280634..139281387,2	MCF-7	breast:
3	chr3:139164444..139166894-chr3:139178847..139180451,2	K562	blood:
4	chr3:139149320..139150091-chr3:139238870..139239588,2	MCF-7	breast:
5	chr3:139153603..139154270-chr3:139225278..139226293,3	MCF-7	breast:
6	chr3:139146805..139148507-chr3:139148685..139150247,2	MCF-7	breast:
7	chr3:139146285..139147031-chr3:139280679..139281347,3	MCF-7	breast:
8	chr3:139141697..139144068-chr3:139149999..139151730,2	MCF-7	breast:
9	chr3:139146193..139146816-chr3:139238621..139239555,2	MCF-7	breast:
10	chr3:139156554..139158574-chr3:139162722..139165410,2	MCF-7	breast:
11	chr3:139145144..139147566-chr3:139278645..139281496,3	MCF-7	breast:
12	chr3:139146034..139146861-chr3:139280550..139281756,11	MCF-7	breast:
13	chr3:139146075..139147113-chr3:139225388..139226287,6	MCF-7	breast:
14	chr3:139146130..139147006-chr3:139239589..139240160,2	MCF-7	breast:
15	chr3:139156554..139158574-chr3:139162722..139165410,2	MCF-7	breast:
16	chr3:139146805..139148507-chr3:139148685..139150247,2	MCF-7	breast:
17	chr3:139107265..139110435-chr3:139143969..139145839,3	MCF-7	breast:
18	chr3:139146909..139147443-chr3:139280597..139281168,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS22-1	chr3:139163136-139163205	ENSG00000248932.1
2	lnc-MRPS22-1	chr3:139163136-139163352	NONHSAT092358
3	lnc-MRPS22-1	chr3:139163136-139163429	NONHSAT092359
4	lnc-MRPS22-1	chr3:139163136-139163167	ENSG00000248932.1
5	lnc-MRPS22-1	chr3:139163021-139165157	NONHSAT092369
6	lnc-MRPS22-1	chr3:139163136-139163452	NONHSAT092368
7	lnc-MRPS22-1	chr3:139155377-139156501	NONHSAT092369

No data

Variant related genes	Relation type
ENSG00000184432	chromatin interactions
ENSG00000248932	chromatin interactions

Extended variants
information (count: 689 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:689 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17395611	chr3:139144615-139144616	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190266793	chr3:139144654-139144655	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs532945345	chr3:139144693-139144694	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546738683	chr3:139144779-139144780	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs149149917	chr3:139144808-139144809	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566571561	chr3:139144824-139144825	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565105615	chr3:139144828-139144829	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533022096	chr3:139144831-139144832	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs145642937	chr3:139144843-139144844	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs72598497	chr3:139144854-139144855	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201947278	chr3:139144855-139144856	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79569253	chr3:139144856-139144857	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs548847071	chr3:139144915-139144916	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs568867941	chr3:139144945-139144946	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374486259	chr3:139144965-139144966	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs78962685	chr3:139144971-139144972	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs76429025	chr3:139144983-139144984	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs539768826	chr3:139144984-139144985	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs111410792	chr3:139144993-139144994	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573363568	chr3:139145027-139145028	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542296328	chr3:139145028-139145029	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528829226	chr3:139145046-139145047	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs367668116	chr3:139145076-139145077	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555485662	chr3:139145097-139145098	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575211098	chr3:139145105-139145106	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs544233178	chr3:139145106-139145107	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182878245	chr3:139145203-139145204	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187393099	chr3:139145246-139145247	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs142683565	chr3:139145253-139145254	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560285920	chr3:139145297-139145298	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529123207	chr3:139145309-139145310	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549042733	chr3:139145334-139145335	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs548753960	chr3:139145425-139145426	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs531451806	chr3:139145426-139145427	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs551369460	chr3:139145482-139145483	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571268495	chr3:139145562-139145563	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs545533592	chr3:139145591-139145592	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540086793	chr3:139145605-139145606	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs10630732	chr3:139145621-139145622	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs34047968	chr3:139145622-139145623	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs71626098	chr3:139145647-139145648	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs3046572	chr3:139145648-139145649	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568679134	chr3:139145747-139145748	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs55922868	chr3:139145753-139145754	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs557506170	chr3:139145755-139145756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs570992103	chr3:139145762-139145763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs1017469	chr3:139145770-139145771	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1017468	chr3:139145778-139145779	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114112384	chr3:139145783-139145784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537971391	chr3:139145854-139145855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139114200-139153800	Weak transcription	Left Ventricle	heart
2	chr3:139136400-139166200	Weak transcription	Fetal Brain Female	brain
3	chr3:139137200-139149200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:139137400-139146400	Weak transcription	Primary T cells from cord blood	blood
5	chr3:139137600-139146400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:139137800-139153200	Weak transcription	Esophagus	oesophagus
7	chr3:139138200-139153600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:139138400-139146600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:139138600-139147800	Weak transcription	Primary B cells from cord blood	blood
10	chr3:139138600-139166200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:139138600-139170400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:139139600-139160000	Weak transcription	Fetal Brain Male	brain
13	chr3:139140400-139146400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:139140400-139146600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:139140400-139146600	Weak transcription	Brain Angular Gyrus	brain
16	chr3:139140600-139145200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:139140600-139146600	Weak transcription	Fetal Kidney	kidney
18	chr3:139140600-139147200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:139140800-139147200	Weak transcription	Brain Germinal Matrix	brain
20	chr3:139140800-139152800	Weak transcription	Placenta	Placenta
21	chr3:139140800-139153200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:139140800-139153200	Weak transcription	HSMMtube	muscle
23	chr3:139140800-139153800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:139141200-139160000	Weak transcription	Lung	lung
25	chr3:139141400-139146800	Weak transcription	Fetal Intestine Large	intestine
26	chr3:139141400-139167000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:139142000-139144800	Strong transcription	Adipose Nuclei	Adipose
28	chr3:139142000-139145000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr3:139142000-139145200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:139142000-139146600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr3:139142000-139146600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr3:139142000-139147400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr3:139142200-139144800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:139142200-139145200	Strong transcription	Brain Hippocampus Middle	brain
35	chr3:139142200-139146600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:139142200-139152800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:139142200-139172200	Weak transcription	Fetal Heart	heart
38	chr3:139142400-139154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:139142600-139149400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:139142600-139158200	Weak transcription	Gastric	stomach
41	chr3:139142800-139146400	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:139142800-139149400	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:139142800-139150400	Weak transcription	Spleen	Spleen
44	chr3:139142800-139162600	Weak transcription	Psoas Muscle	Psoas
45	chr3:139142800-139169000	Weak transcription	Aorta	Aorta
46	chr3:139142800-139176800	Weak transcription	Fetal Stomach	stomach
47	chr3:139143000-139146600	Weak transcription	Fetal Intestine Small	intestine
48	chr3:139143000-139153800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:139143400-139146200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:139143400-139152000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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