Variant report

Variant	esv2763471
Chromosome Location	chr5:98643468-98753555
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:98691604..98693198-chr5:98695022..98696539,2	K562	blood:
2	chr5:98683331..98686253-chr5:98686370..98688077,2	K562	blood:
3	chr5:98683331..98686253-chr5:98686370..98688077,2	K562	blood:
4	chr5:98656230..98656989-chr5:99647221..99648200,3	MCF-7	breast:
5	chr5:98684216..98686080-chr5:98701796..98703899,2	MCF-7	breast:
6	chr5:98687563..98689159-chr5:98702688..98704857,2	MCF-7	breast:
7	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:
8	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:
9	chr5:98684216..98686080-chr5:98701796..98703899,2	MCF-7	breast:
10	chr16:20680901..20681728-chr5:98717008..98717838,2	MCF-7	breast:
11	chr5:98691604..98693198-chr5:98695022..98696539,2	K562	blood:
12	chr5:98687563..98689159-chr5:98702688..98704857,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166743	chromatin interactions

Extended variants
information (count: 1229 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1229 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181977828	chr5:98643472-98643473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554364947	chr5:98643479-98643480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76951205	chr5:98643510-98643511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs398093604	chr5:98643511-98643512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376211474	chr5:98643540-98643541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566179273	chr5:98643575-98643576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577342662	chr5:98643589-98643590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140440888	chr5:98643592-98643593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552712155	chr5:98643594-98643595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576339923	chr5:98643617-98643618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150411735	chr5:98643633-98643634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556200883	chr5:98643637-98643638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369234148	chr5:98643662-98643663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574634915	chr5:98643676-98643677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114846534	chr5:98643759-98643760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115676388	chr5:98643762-98643763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527423688	chr5:98643763-98643764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545476890	chr5:98643791-98643792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563766950	chr5:98643844-98643845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531228650	chr5:98643872-98643873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186356051	chr5:98643910-98643911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562251649	chr5:98643930-98643931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529542433	chr5:98643935-98643936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548052666	chr5:98643956-98643957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566262677	chr5:98644018-98644019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539969753	chr5:98644026-98644027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551929439	chr5:98644053-98644054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570101561	chr5:98644084-98644085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537060495	chr5:98644121-98644122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555687908	chr5:98644133-98644134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189867003	chr5:98644174-98644175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4702966	chr5:98644175-98644176	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs10077927	chr5:98644227-98644228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553584946	chr5:98644238-98644239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377387001	chr5:98644239-98644240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182129851	chr5:98644265-98644266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76208249	chr5:98644279-98644280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564038418	chr5:98644296-98644297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576045463	chr5:98644307-98644308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201360078	chr5:98644317-98644318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386358303	chr5:98644326-98644327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199902440	chr5:98644327-98644328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561720112	chr5:98644328-98644329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78565054	chr5:98644329-98644330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548090714	chr5:98644378-98644379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138199715	chr5:98644419-98644420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80074746	chr5:98644428-98644429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551964254	chr5:98644439-98644440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575483779	chr5:98644461-98644462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570056492	chr5:98644472-98644473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98641600-98644800	Weak transcription	Fetal Lung	lung
2	chr5:98643200-98644600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:98643400-98644600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:98644600-98646200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:98644600-98646400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:98644800-98645200	Enhancers	Fetal Lung	lung
7	chr5:98645200-98650200	Weak transcription	Fetal Lung	lung
8	chr5:98646200-98647400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:98646400-98647400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:98647400-98648200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:98647400-98649000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:98648200-98649400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:98649000-98650800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:98649400-98653200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:98649600-98651200	Enhancers	Fetal Stomach	stomach
16	chr5:98650200-98652600	Enhancers	Fetal Lung	lung
17	chr5:98650800-98651200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr5:98651200-98652200	Weak transcription	Fetal Stomach	stomach
19	chr5:98651200-98653800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:98652200-98652800	Enhancers	Fetal Stomach	stomach
21	chr5:98652400-98652800	Enhancers	Colon Smooth Muscle	Colon
22	chr5:98653200-98653400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:98653800-98655200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:98656200-98656400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:98684000-98684400	Active TSS	A549	lung
26	chr5:98688400-98689000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:98691600-98692200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:98691600-98692400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:98695600-98696000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr5:98695600-98696200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:98699200-98699600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:98699200-98700400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:98699400-98700000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:98699400-98700000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:98699600-98700000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:98700400-98705400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:98704400-98706200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:98704600-98706200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:98704600-98706400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:98704600-98706400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:98705000-98705600	Enhancers	Fetal Brain Male	brain
42	chr5:98705400-98706600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:98705600-98706000	Enhancers	Brain Germinal Matrix	brain
44	chr5:98710800-98711400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:98711400-98712600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:98712600-98712800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:98712800-98713200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:98713000-98714000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:98713200-98715600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:98713600-98714600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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