Variant report

Variant	nsv964908
Chromosome Location	chr5:94834726-94836764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:94836731-94836782	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:94835112-94835260	K562	blood:	n/a	n/a
3	RFX5	chr5:94835412-94835522	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94831708..94834724-chr5:94836211..94838681,3	K562	blood:
2	chr5:94835766..94839248-chr5:94841208..94845104,3	K562	blood:

Variant related genes	Relation type
TTC37	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114496595	chr5:94834738-94834739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560327174	chr5:94834856-94834857	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs550232276	chr5:94834870-94834871	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs563562985	chr5:94834891-94834892	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181936629	chr5:94834922-94834923	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs559676246	chr5:94834954-94834955	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143897448	chr5:94835030-94835031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534388871	chr5:94835033-94835034	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148271370	chr5:94835051-94835052	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2560261	chr5:94835075-94835076	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536636190	chr5:94835113-94835114	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs556581044	chr5:94835144-94835145	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs570012090	chr5:94835152-94835153	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs538950114	chr5:94835173-94835174	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558849200	chr5:94835178-94835179	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs572621186	chr5:94835277-94835278	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575636316	chr5:94835296-94835297	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541291877	chr5:94835350-94835351	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555029495	chr5:94835362-94835363	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574875783	chr5:94835406-94835407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200251961	chr5:94835415-94835416	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs185159252	chr5:94835454-94835455	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532403936	chr5:94835626-94835627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546137432	chr5:94835658-94835659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188254661	chr5:94835666-94835667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528269815	chr5:94835669-94835670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181081379	chr5:94835670-94835671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201525426	chr5:94835678-94835679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551375362	chr5:94835726-94835727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371668617	chr5:94835761-94835762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571400828	chr5:94835842-94835843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2881774	chr5:94835911-94835912	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186266534	chr5:94835942-94835943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570128000	chr5:94835943-94835944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538917065	chr5:94835945-94835946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559180729	chr5:94835956-94835957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191562794	chr5:94836045-94836046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535209549	chr5:94836067-94836068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554908822	chr5:94836150-94836151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572580709	chr5:94836227-94836228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183298289	chr5:94836233-94836234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557361326	chr5:94836262-94836263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114396070	chr5:94836288-94836289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546249791	chr5:94836300-94836301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559584724	chr5:94836309-94836310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185950929	chr5:94836327-94836328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190705198	chr5:94836331-94836332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2731838	chr5:94836337-94836338	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs111394977	chr5:94836367-94836368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561737925	chr5:94836370-94836371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94799200-94834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:94811000-94889400	Weak transcription	Stomach Mucosa	stomach
3	chr5:94811200-94835600	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr5:94812400-94835600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:94815400-94853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:94817200-94849000	Weak transcription	Small Intestine	intestine
7	chr5:94817400-94865600	Strong transcription	Osteobl	bone
8	chr5:94818000-94882400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:94822400-94835800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:94822400-94839600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:94822400-94840600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:94822400-94847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:94822600-94836400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:94823200-94839600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:94823400-94834800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:94823400-94834800	Weak transcription	Pancreas	Pancrea
17	chr5:94824400-94862200	Weak transcription	Colonic Mucosa	Colon
18	chr5:94824800-94843800	Strong transcription	Liver	Liver
19	chr5:94824800-94847200	Weak transcription	Brain Substantia Nigra	brain
20	chr5:94824800-94866000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:94825000-94835200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:94825000-94886200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:94825200-94834800	Weak transcription	Lung	lung
24	chr5:94825200-94835200	Strong transcription	Adipose Nuclei	Adipose
25	chr5:94825200-94866000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:94825400-94834800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:94825400-94835200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:94825400-94839800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:94825400-94852200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:94825400-94886400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr5:94825600-94839600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr5:94825800-94834800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:94826000-94834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:94826000-94839600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:94826000-94847400	Weak transcription	Fetal Heart	heart
36	chr5:94826000-94886400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:94826200-94835000	Strong transcription	Primary B cells from cord blood	blood
38	chr5:94826800-94886400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:94827200-94834800	Weak transcription	Esophagus	oesophagus
40	chr5:94827200-94834800	Weak transcription	Spleen	Spleen
41	chr5:94827200-94837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:94827200-94839800	Strong transcription	Primary T cells from cord blood	blood
43	chr5:94827200-94848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:94827200-94865600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:94827200-94866800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:94827200-94889600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:94827400-94834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:94827400-94835200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:94827400-94848800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:94827800-94837800	Weak transcription	Fetal Brain Male	brain

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