Variant report

Variant	nsv471025
Chromosome Location	chr5:97242130-97314521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96987103..96987619-chr5:97253568..97254119,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2215E18.1.1-3	chr5:97257835-97258399	XLOC_004484

Extended variants
information (count: 975 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4596407	chr5:97242130-97242131	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77699712	chr5:97242150-97242151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562741083	chr5:97242162-97242163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374085787	chr5:97242179-97242180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529927435	chr5:97242209-97242210	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4377726	chr5:97242225-97242226	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184299790	chr5:97242241-97242242	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553151855	chr5:97242255-97242256	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369332739	chr5:97242275-97242276	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73776226	chr5:97242303-97242304	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142091266	chr5:97242315-97242316	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397743894	chr5:97242321-97242322	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4543295	chr5:97242322-97242323	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs117481063	chr5:97242364-97242365	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565409267	chr5:97242366-97242367	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189602885	chr5:97242375-97242376	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72781569	chr5:97242380-97242381	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145687363	chr5:97242409-97242410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185687180	chr5:97242410-97242411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572423920	chr5:97242423-97242424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546217091	chr5:97242426-97242427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564513908	chr5:97242463-97242464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78441566	chr5:97242472-97242473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543926758	chr5:97242507-97242508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190795611	chr5:97242511-97242512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34371004	chr5:97242586-97242587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61401044	chr5:97242618-97242619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541681664	chr5:97242640-97242641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59069286	chr5:97242650-97242651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181546671	chr5:97242656-97242657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527618713	chr5:97242672-97242673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78901837	chr5:97242680-97242681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138254739	chr5:97242710-97242711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531278726	chr5:97242730-97242731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534274314	chr5:97242743-97242744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146585845	chr5:97242810-97242811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs60251037	chr5:97242811-97242812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546889267	chr5:97242832-97242833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79868712	chr5:97242869-97242870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560405136	chr5:97242883-97242884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77655888	chr5:97242907-97242908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73776227	chr5:97242916-97242917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs57415393	chr5:97242952-97242953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76315793	chr5:97242966-97242967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537536792	chr5:97242972-97242973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558164374	chr5:97242977-97242978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576408006	chr5:97242978-97242979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186526273	chr5:97243048-97243049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555841620	chr5:97243087-97243088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574094868	chr5:97243092-97243093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97240800-97245200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:97241400-97243400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:97241600-97242400	Enhancers	Stomach Mucosa	stomach
4	chr5:97241600-97242600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr5:97241600-97243200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:97241800-97242400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:97241800-97242400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:97241800-97242400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:97241800-97242400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:97241800-97242400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:97241800-97242600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:97242000-97242200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:97242200-97242400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:97242400-97242600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:97242400-97243400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:97242400-97243600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:97242600-97243200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:97243400-97243600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:97243400-97243600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr5:97243400-97243800	Enhancers	Placenta	Placenta
21	chr5:97243400-97244000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:97244000-97245000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:97245000-97245800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:97245000-97246000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:97245000-97246000	Enhancers	NHEK	skin
26	chr5:97245200-97245400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:97248400-97248600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:97248600-97249600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:97249600-97250600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:97250200-97251200	Enhancers	Stomach Mucosa	stomach
31	chr5:97253400-97254000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr5:97254000-97255000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:97255000-97255200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr5:97255000-97255400	Enhancers	Ovary	ovary
35	chr5:97255200-97255800	Enhancers	Fetal Stomach	stomach
36	chr5:97256600-97257200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:97257000-97257400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:97259800-97260600	Enhancers	GM12878-XiMat	blood
39	chr5:97264600-97265800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:97265200-97265800	Enhancers	NHDF-Ad	bronchial
41	chr5:97265800-97271800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:97271800-97272200	Enhancers	Adipose Nuclei	Adipose
43	chr5:97271800-97272200	Enhancers	Brain Cingulate Gyrus	brain
44	chr5:97271800-97272200	Enhancers	Fetal Lung	lung
45	chr5:97271800-97272400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:97271800-97272400	Enhancers	Brain Substantia Nigra	brain
47	chr5:97271800-97272600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:97271800-97272800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:97272000-97272200	Enhancers	NHDF-Ad	bronchial
50	chr5:97272000-97272400	Enhancers	Brain Angular Gyrus	brain

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