Variant report

Variant	esv3413410
Chromosome Location	chr5:115202400-115205763
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:115177412..115179376-chr5:115201368..115203253,2	MCF-7	breast:
2	chr19:49121390..49123356-chr5:115205123..115206693,2	MCF-7	breast:
3	chr5:115191407..115193451-chr5:115202784..115204601,2	K562	blood:
4	chr5:115200336..115203007-chr5:115203929..115206460,2	K562	blood:
5	chr5:115204352..115206713-chr5:115207529..115209767,2	K562	blood:
6	chr16:71323238..71324801-chr5:115205748..115207250,2	K562	blood:
7	chr5:115175801..115178780-chr5:115205651..115208608,2	K562	blood:
8	chr5:115204790..115207353-chr5:115207860..115210489,2	MCF-7	breast:
9	chr5:115183571..115185116-chr5:115205126..115206631,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000063176	chromatin interactions
ENSG00000145782	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000180917	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80118146	chr5:115202418-115202419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs548083641	chr5:115202425-115202426	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112000607	chr5:115202432-115202433	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200309318	chr5:115202449-115202450	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377003213	chr5:115202468-115202469	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371074220	chr5:115202474-115202475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs374376581	chr5:115202481-115202482	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201251603	chr5:115202485-115202486	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs438406	chr5:115202496-115202497	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372023745	chr5:115202502-115202503	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549994665	chr5:115202559-115202560	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368817957	chr5:115202591-115202592	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568611394	chr5:115202696-115202697	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537554565	chr5:115202702-115202703	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550923011	chr5:115202714-115202715	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186736717	chr5:115202738-115202739	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533818743	chr5:115202771-115202772	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191494145	chr5:115202791-115202792	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148122399	chr5:115202792-115202793	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs140998537	chr5:115202913-115202914	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376398636	chr5:115202924-115202925	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150185690	chr5:115202929-115202930	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs138722293	chr5:115202963-115202964	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs143426150	chr5:115202975-115202976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371933625	chr5:115203008-115203009	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545525870	chr5:115203012-115203013	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530280450	chr5:115203013-115203014	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs565244196	chr5:115203103-115203104	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs143271723	chr5:115203154-115203155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs78455049	chr5:115203164-115203165	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561608720	chr5:115203177-115203178	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs182872017	chr5:115203197-115203198	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs549917389	chr5:115203226-115203227	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs147546325	chr5:115203251-115203252	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs138473073	chr5:115203263-115203264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368669751	chr5:115203267-115203268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551086140	chr5:115203346-115203347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571283648	chr5:115203350-115203351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188679558	chr5:115203374-115203375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192827094	chr5:115203389-115203390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182847362	chr5:115203401-115203402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369467938	chr5:115203427-115203428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187934984	chr5:115203474-115203475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556353042	chr5:115203564-115203565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576319354	chr5:115203575-115203576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113052205	chr5:115203580-115203581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368132666	chr5:115203742-115203743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539105356	chr5:115203744-115203745	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371735810	chr5:115203774-115203775	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192398154	chr5:115203843-115203844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115179800-115205000	Weak transcription	HSMM	muscle
2	chr5:115185600-115218600	Weak transcription	Lung	lung
3	chr5:115187200-115206600	Weak transcription	Ovary	ovary
4	chr5:115187400-115206200	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:115189800-115218600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:115189800-115235800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:115190400-115206000	Weak transcription	Primary B cells from cord blood	blood
8	chr5:115191000-115223000	Weak transcription	Right Ventricle	heart
9	chr5:115192400-115207600	Weak transcription	Pancreas	Pancrea
10	chr5:115192800-115206000	Weak transcription	Left Ventricle	heart
11	chr5:115193200-115207400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:115193200-115239000	Weak transcription	Gastric	stomach
13	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:115193800-115205200	Weak transcription	Primary T cells from cord blood	blood
15	chr5:115194000-115206000	Weak transcription	Fetal Lung	lung
16	chr5:115194000-115206000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:115194000-115206200	Weak transcription	Fetal Kidney	kidney
18	chr5:115194000-115211000	Weak transcription	HepG2	liver
19	chr5:115194200-115205200	Weak transcription	HUVEC	blood vessel
20	chr5:115194200-115206000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:115194200-115206200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:115194200-115209000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:115194400-115205000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:115194400-115205000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr5:115194400-115206000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:115194400-115218000	Weak transcription	Fetal Intestine Small	intestine
27	chr5:115194400-115220800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:115195000-115206000	Weak transcription	Fetal Intestine Large	intestine
29	chr5:115195200-115206000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:115195200-115206000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:115195200-115206200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:115195400-115202800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:115195400-115205400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:115195400-115205600	Weak transcription	Adipose Nuclei	Adipose
35	chr5:115195400-115209000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
37	chr5:115195600-115205800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:115195600-115206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:115195600-115208600	Weak transcription	Osteobl	bone
40	chr5:115195600-115214600	Weak transcription	HSMMtube	muscle
41	chr5:115195800-115206000	Weak transcription	NHDF-Ad	bronchial
42	chr5:115196000-115206000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:115196000-115206000	Weak transcription	Placenta	Placenta
44	chr5:115196000-115211200	Weak transcription	Psoas Muscle	Psoas
45	chr5:115196000-115233600	Weak transcription	Esophagus	oesophagus
46	chr5:115196600-115205400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:115199200-115202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:115199600-115205400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:115200000-115205400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr5:115200000-115206000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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