Variant report

Variant	esv3348846
Chromosome Location	chr5:96514946-96516894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:96515320-96515470	GM12801	blood:	n/a	n/a
2	GATA3	chr5:96515013-96515213	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr5:96516204-96516565	K562	blood:	n/a	n/a
4	POLR2A	chr5:96514895-96515073	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:96513502..96516317-chr5:96517939..96521183,3	K562	blood:
2	chr5:96142348..96143873-chr5:96516638..96519268,2	K562	blood:
3	chr5:96513470..96515096-chr5:96518937..96520609,2	MCF-7	breast:
4	chr5:96268592..96270496-chr5:96515475..96517242,2	MCF-7	breast:
5	chr5:96508014..96513294-chr5:96513654..96520413,9	K562	blood:
6	chr5:96142348..96145031-chr5:96516210..96518138,3	K562	blood:
7	chr5:96513279..96516622-chr5:96517923..96519975,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251513	TF binding region
RNU1-73P	TF binding region
ENSG00000058729	chromatin interactions
ENSG00000164307	chromatin interactions
ENSG00000251513	chromatin interactions
ENSG00000206698	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557188461	chr5:96514961-96514962	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs575565029	chr5:96514967-96514968	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs6896160	chr5:96514982-96514983	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561206485	chr5:96514996-96514997	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs551572181	chr5:96514999-96515000	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs540569036	chr5:96515032-96515033	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs565113732	chr5:96515040-96515041	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs568189290	chr5:96515045-96515046	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs79368739	chr5:96515067-96515068	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs551423778	chr5:96515080-96515081	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs191194810	chr5:96515084-96515085	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs527362451	chr5:96515123-96515124	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs547139567	chr5:96515148-96515149	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs567310818	chr5:96515165-96515166	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs114726561	chr5:96515253-96515254	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs546946033	chr5:96515254-96515255	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs183401990	chr5:96515259-96515260	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs564101009	chr5:96515260-96515261	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs145674042	chr5:96515261-96515262	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs570233142	chr5:96515292-96515293	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs538478302	chr5:96515300-96515301	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs185891877	chr5:96515314-96515315	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs75956562	chr5:96515372-96515373	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs557378363	chr5:96515380-96515381	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs148871472	chr5:96515392-96515393	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs536385743	chr5:96515425-96515426	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs554537676	chr5:96515427-96515428	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs566586253	chr5:96515428-96515429	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs538999346	chr5:96515437-96515438	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs57726714	chr5:96515474-96515475	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs540507666	chr5:96515491-96515492	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs183210219	chr5:96515503-96515504	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs369348645	chr5:96515667-96515668	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs56193933	chr5:96515669-96515670	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs374478734	chr5:96515672-96515673	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs59997106	chr5:96515681-96515682	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs373179187	chr5:96515682-96515683	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs10036496	chr5:96515683-96515684	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs56190322	chr5:96515685-96515686	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs13158434	chr5:96515695-96515696	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs28437441	chr5:96515696-96515697	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs13162506	chr5:96515698-96515699	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs368642324	chr5:96515706-96515707	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs10036499	chr5:96515708-96515709	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs59143678	chr5:96515709-96515710	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs371368199	chr5:96515719-96515720	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs193146478	chr5:96515720-96515721	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs57646082	chr5:96515722-96515723	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs28366841	chr5:96515727-96515728	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs55868064	chr5:96515730-96515731	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96494400-96515200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:96494400-96518000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:96494600-96516600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:96494800-96515200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:96494800-96516400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:96494800-96516400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr5:96494800-96516400	Strong transcription	Fetal Thymus	thymus
8	chr5:96494800-96516600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:96495000-96516000	Strong transcription	Dnd41	blood
10	chr5:96495000-96516200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:96495200-96515200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:96495200-96515400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr5:96495200-96516000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:96495200-96516800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:96495200-96518000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:96495400-96516600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:96495600-96515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:96495600-96515800	Strong transcription	Osteobl	bone
19	chr5:96495600-96517800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:96495800-96517400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:96496000-96516800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:96496200-96515200	Strong transcription	NH-A	brain
23	chr5:96496600-96515600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:96496600-96516400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:96497800-96516400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:96498000-96516400	Strong transcription	Placenta	Placenta
27	chr5:96499000-96515000	Strong transcription	Adipose Nuclei	Adipose
28	chr5:96499400-96515200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:96500000-96515400	Strong transcription	HMEC	breast
30	chr5:96500400-96516000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:96501400-96515200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:96501600-96515000	Strong transcription	HUVEC	blood vessel
33	chr5:96501800-96515200	Strong transcription	Liver	Liver
34	chr5:96502000-96515200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:96502400-96515000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:96502400-96516000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:96502600-96515400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr5:96502600-96516000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:96503000-96515400	Strong transcription	HSMM	muscle
40	chr5:96503000-96516600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr5:96503200-96515200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:96503200-96516000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:96503600-96515200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:96503600-96515600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:96503600-96515800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:96503600-96516000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:96503800-96515200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr5:96504000-96516000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:96504000-96516000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:96504400-96515200	Strong transcription	NHDF-Ad	bronchial

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