Variant report

Variant	esv3437734
Chromosome Location	chr5:177950246-177954644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLK4-2	chr5:177950506-177950714	NONHSAT105537

Extended variants
information (count: 186 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79030251	chr5:177950258-177950259	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs138000256	chr5:177950259-177950260	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs70997610	chr5:177950261-177950262	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142871576	chr5:177950268-177950269	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192144465	chr5:177950299-177950300	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs11744777	chr5:177950300-177950301	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184562768	chr5:177950338-177950339	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7379734	chr5:177950343-177950344	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs111411514	chr5:177950390-177950391	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs190242615	chr5:177950416-177950417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560477778	chr5:177950429-177950430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71611438	chr5:177950443-177950444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6859335	chr5:177950447-177950448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56695333	chr5:177950450-177950451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559262736	chr5:177950473-177950474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149258964	chr5:177950481-177950482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552245075	chr5:177950503-177950504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144507669	chr5:177950522-177950523	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs184525738	chr5:177950564-177950565	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs550082171	chr5:177950575-177950576	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs568702027	chr5:177950629-177950630	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs535755923	chr5:177950653-177950654	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs376599909	chr5:177950658-177950659	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs531126107	chr5:177950673-177950674	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs138108425	chr5:177950718-177950719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554370598	chr5:177950729-177950730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189233326	chr5:177950731-177950732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75152289	chr5:177950737-177950738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148394386	chr5:177950738-177950739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550446631	chr5:177950763-177950764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75062377	chr5:177950781-177950782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12651848	chr5:177950783-177950784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs117877766	chr5:177950825-177950826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs647026	chr5:177950833-177950834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181627903	chr5:177950852-177950853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559540789	chr5:177950924-177950925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113493412	chr5:177950929-177950930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142529814	chr5:177950948-177950949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111890172	chr5:177950967-177950968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147213624	chr5:177951089-177951090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529937422	chr5:177951123-177951124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186177314	chr5:177951125-177951126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140660599	chr5:177951126-177951127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144397798	chr5:177951217-177951218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189943275	chr5:177951264-177951265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547761689	chr5:177951278-177951279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376080573	chr5:177951283-177951284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566269583	chr5:177951286-177951287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540013958	chr5:177951287-177951288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557904212	chr5:177951328-177951329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177946600-177951400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:177947200-177953200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:177947800-177952800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:177948000-177952800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:177950000-177950400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
6	chr5:177950200-177950400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:177950400-177953800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:177950800-177951400	Enhancers	Dnd41	blood
9	chr5:177951400-177951600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:177951400-177951600	Weak transcription	Right Atrium	heart
11	chr5:177951600-177951800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:177951600-177951800	Enhancers	Right Atrium	heart
13	chr5:177951800-177952800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:177951800-177953000	Weak transcription	Right Atrium	heart
15	chr5:177952800-177953200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr5:177952800-177953200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:177952800-177954000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:177952800-177954400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:177952800-177955200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:177952800-177956400	Enhancers	Left Ventricle	heart
21	chr5:177953000-177953200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:177953000-177953400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr5:177953000-177953400	Enhancers	Psoas Muscle	Psoas
24	chr5:177953000-177953600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:177953000-177953800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:177953000-177954200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr5:177953000-177954200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:177953000-177954400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:177953000-177954800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:177953000-177954800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:177953000-177954800	Enhancers	Right Atrium	heart
32	chr5:177953000-177955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:177953000-177956000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:177953000-177956800	Enhancers	Right Ventricle	heart
35	chr5:177953200-177954200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr5:177953200-177954400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:177953200-177954400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:177953200-177954400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:177953200-177954400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:177953200-177954600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr5:177953200-177954600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:177953200-177954600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:177953200-177954600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:177953200-177955000	Enhancers	Fetal Heart	heart
45	chr5:177953200-177955400	Enhancers	Fetal Stomach	stomach
46	chr5:177953200-177955800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:177953400-177953600	Enhancers	Stomach Smooth Muscle	stomach
48	chr5:177953400-177953800	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr5:177953400-177953800	Weak transcription	Psoas Muscle	Psoas
50	chr5:177953400-177954200	Enhancers	NHDF-Ad	bronchial

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