Variant report

Variant	nsv980945
Chromosome Location	chr5:127151707-127155584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127154107..127155724-chr5:127212443..127214983,2	MCF-7	breast:
2	chr5:127152225..127154781-chr5:127209018..127211604,2	MCF-7	breast:
3	chr5:127150471..127153155-chr5:127164989..127167539,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561943426	chr5:127151709-127151710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552836119	chr5:127151722-127151723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189157278	chr5:127151742-127151743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375871863	chr5:127151743-127151744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537195318	chr5:127151754-127151755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17164654	chr5:127151763-127151764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567262223	chr5:127151782-127151783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181907540	chr5:127151801-127151802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142903424	chr5:127151803-127151804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151063472	chr5:127151878-127151879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140974312	chr5:127151927-127151928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77517929	chr5:127151940-127151941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185839242	chr5:127151972-127151973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1421746	chr5:127151976-127151977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
15	rs144630619	chr5:127152020-127152021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533329769	chr5:127152039-127152040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147871886	chr5:127152066-127152067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560749799	chr5:127152094-127152095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201875304	chr5:127152105-127152106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552799377	chr5:127152128-127152129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10076805	chr5:127152235-127152236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs530482138	chr5:127152276-127152277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547018138	chr5:127152354-127152355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550666245	chr5:127152385-127152386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567277152	chr5:127152421-127152422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190414804	chr5:127152438-127152439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181195581	chr5:127152439-127152440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141468258	chr5:127152491-127152492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147009240	chr5:127152503-127152504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558293270	chr5:127152537-127152538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186699387	chr5:127152586-127152587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs711360	chr5:127152634-127152635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138055502	chr5:127152641-127152642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10491251	chr5:127152643-127152644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555941006	chr5:127152669-127152670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191236784	chr5:127152673-127152674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149088000	chr5:127152802-127152803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577565303	chr5:127152807-127152808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546527849	chr5:127152810-127152811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563037400	chr5:127152866-127152867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370361384	chr5:127152875-127152876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79321496	chr5:127152888-127152889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376326092	chr5:127152905-127152906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568247521	chr5:127152908-127152909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548535225	chr5:127152927-127152928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143117152	chr5:127152951-127152952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536869937	chr5:127153005-127153006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148224715	chr5:127153052-127153053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546143820	chr5:127153105-127153106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566142896	chr5:127153294-127153295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127139200-127151800	Weak transcription	Stomach Mucosa	stomach
2	chr5:127148400-127152400	Enhancers	Fetal Stomach	stomach
3	chr5:127149000-127154400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:127149800-127152000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr5:127150000-127159400	Weak transcription	Right Atrium	heart
6	chr5:127150400-127152000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:127150400-127154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:127151000-127154200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127151000-127156600	Weak transcription	NHDF-Ad	bronchial
10	chr5:127151000-127159000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:127151000-127161200	Weak transcription	HSMM	muscle
12	chr5:127151200-127152000	Enhancers	Stomach Smooth Muscle	stomach
13	chr5:127151200-127156600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:127151200-127156800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:127151400-127152000	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:127151800-127152600	Enhancers	Stomach Mucosa	stomach
17	chr5:127152000-127152200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:127152000-127152400	Enhancers	Colon Smooth Muscle	Colon
19	chr5:127152400-127156800	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:127152600-127154200	Weak transcription	Stomach Mucosa	stomach
21	chr5:127154200-127155200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:127154200-127156200	Enhancers	Stomach Mucosa	stomach
23	chr5:127154400-127154600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr5:127154600-127158600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:127155400-127157200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links