Variant report

Variant	nsv883215
Chromosome Location	chr5:177961860-177980792
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177841800..177844284-chr5:177969427..177971380,2	K562	blood:
2	chr5:177706688..177707297-chr5:177977028..177977867,2	MCF-7	breast:
3	chr5:177888015..177888839-chr5:177977833..177978735,3	MCF-7	breast:
4	chr5:177710809..177711655-chr5:177978098..177978611,2	MCF-7	breast:
5	chr5:177974829..177978775-chr5:177979610..177982986,3	MCF-7	breast:
6	chr5:177639899..177641495-chr5:177970061..177972011,2	K562	blood:
7	chr5:177888252..177888759-chr5:177978244..177978784,2	K562	blood:
8	chr5:177706927..177707599-chr5:177977871..177978610,3	MCF-7	breast:
9	chr5:177706698..177707593-chr5:177977751..177978699,5	MCF-7	breast:
10	chr5:177630692..177632975-chr5:177978768..177981207,2	MCF-7	breast:
11	chr5:177736569..177737099-chr5:177978277..177978783,2	MCF-7	breast:
12	chr5:177974829..177978775-chr5:177979610..177982986,3	MCF-7	breast:
13	chr1:31203803..31206340-chr5:177974675..177976195,2	K562	blood:
14	chr5:177887719..177888721-chr5:177977307..177978270,3	MCF-7	breast:
15	chr5:177977818..177978619-chr5:178017535..178018077,2	MCF-7	breast:
16	chr5:177893036..177895122-chr5:177964444..177967291,2	K562	blood:
17	chr5:177957278..177960312-chr5:177962305..177965618,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000050767	chromatin interactions
ENSG00000197451	chromatin interactions

Extended variants
information (count: 864 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553780	chr5:177961860-177961861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191820140	chr5:177961868-177961869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529482581	chr5:177961870-177961871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547530172	chr5:177961923-177961924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548699504	chr5:177961930-177961931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373086765	chr5:177961973-177961974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545441466	chr5:177961974-177961975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35460582	chr5:177961985-177961986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35717004	chr5:177961988-177961989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77725534	chr5:177961990-177961991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554814	chr5:177962010-177962011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533045425	chr5:177962011-177962012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2617263	chr5:177962026-177962027	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569594645	chr5:177962097-177962098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536951776	chr5:177962118-177962119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73342699	chr5:177962119-177962120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567141127	chr5:177962120-177962121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573511900	chr5:177962127-177962128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534543381	chr5:177962134-177962135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552726461	chr5:177962156-177962157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183548008	chr5:177962176-177962177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546266890	chr5:177962185-177962186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111489344	chr5:177962186-177962187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2617264	chr5:177962187-177962188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576338809	chr5:177962201-177962202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368280838	chr5:177962202-177962203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544149516	chr5:177962222-177962223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56243219	chr5:177962264-177962265	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540041670	chr5:177962265-177962266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529595337	chr5:177962334-177962335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56249105	chr5:177962345-177962346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576574912	chr5:177962369-177962370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559889860	chr5:177962426-177962427	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs532896116	chr5:177962434-177962435	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs112701291	chr5:177962461-177962462	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs551409579	chr5:177962478-177962479	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs139651027	chr5:177962485-177962486	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs530393509	chr5:177962491-177962492	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs188318289	chr5:177962510-177962511	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs149981744	chr5:177962518-177962519	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs534599470	chr5:177962526-177962527	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs180898778	chr5:177962559-177962560	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs545260168	chr5:177962576-177962577	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs374585721	chr5:177962578-177962579	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs539551182	chr5:177962621-177962622	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs145157312	chr5:177962668-177962669	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs543774	chr5:177962672-177962673	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74756051	chr5:177962680-177962681	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs142441144	chr5:177962695-177962696	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs574428195	chr5:177962725-177962726	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177954600-177973800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:177954800-177962400	Weak transcription	Right Atrium	heart
3	chr5:177956400-177962400	Weak transcription	Left Ventricle	heart
4	chr5:177956800-177962000	Weak transcription	Right Ventricle	heart
5	chr5:177959200-177962400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:177959200-177963200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:177959200-177963400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:177959800-177962400	Weak transcription	Spleen	Spleen
9	chr5:177960000-177962400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:177960000-177964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:177960200-177962600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:177960400-177962200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:177960400-177962200	Weak transcription	Fetal Stomach	stomach
14	chr5:177960400-177964600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:177960400-177969400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:177960800-177965000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:177961200-177962400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:177961800-177962800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:177961800-177963200	Enhancers	Fetal Heart	heart
20	chr5:177962000-177963800	Enhancers	Right Ventricle	heart
21	chr5:177962200-177962400	Enhancers	Dnd41	blood
22	chr5:177962200-177962600	Enhancers	Gastric	stomach
23	chr5:177962200-177962800	Enhancers	Fetal Lung	lung
24	chr5:177962200-177962800	Enhancers	K562	blood
25	chr5:177962200-177963200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:177962200-177966000	Enhancers	Fetal Stomach	stomach
27	chr5:177962400-177962600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr5:177962400-177962600	Enhancers	Stomach Smooth Muscle	stomach
29	chr5:177962400-177962800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr5:177962400-177962800	Enhancers	Stomach Mucosa	stomach
31	chr5:177962400-177963000	Enhancers	Left Ventricle	heart
32	chr5:177962400-177963000	Enhancers	Ovary	ovary
33	chr5:177962400-177963000	Enhancers	Right Atrium	heart
34	chr5:177962400-177963400	Enhancers	Spleen	Spleen
35	chr5:177962400-177965000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:177962400-177965800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:177962600-177965000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:177962800-177963000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr5:177962800-177964800	Weak transcription	Fetal Lung	lung
40	chr5:177962800-177965000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:177963000-177968800	Weak transcription	Left Ventricle	heart
42	chr5:177963000-177971200	Weak transcription	Right Atrium	heart
43	chr5:177963200-177963600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:177963200-177963600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:177963200-177968600	Weak transcription	Fetal Heart	heart
46	chr5:177963400-177963800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr5:177963400-177963800	Weak transcription	Spleen	Spleen
48	chr5:177963600-177963800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:177963600-177964000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr5:177963600-177966000	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links