Variant report

Variant	esv3425236
Chromosome Location	chr5:68672546-68674544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68669176..68671492-chr5:68672021..68673716,2	MCF-7	breast:
2	chr5:68514651..68516753-chr5:68670108..68672785,2	K562	blood:
3	chr5:68665954..68668664-chr5:68673852..68678917,5	K562	blood:
4	chr5:68674092..68677443-chr5:68678943..68682097,4	K562	blood:
5	chr5:68665185..68668152-chr5:68673816..68676048,2	MCF-7	breast:
6	chr5:68663499..68666759-chr5:68669120..68673475,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085231	chromatin interactions
ENSG00000152942	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142379819	chr5:68672552-68672553	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs78888225	chr5:68672589-68672590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs34003897	chr5:68672590-68672591	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528409360	chr5:68672619-68672620	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546544529	chr5:68672624-68672625	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574813044	chr5:68672635-68672636	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532127941	chr5:68672707-68672708	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550307175	chr5:68672721-68672722	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs565818869	chr5:68672729-68672730	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs568601814	chr5:68672730-68672731	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs191113885	chr5:68672740-68672741	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548145952	chr5:68672743-68672744	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs183703368	chr5:68672746-68672747	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs113815753	chr5:68672762-68672763	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555010975	chr5:68672766-68672767	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369808215	chr5:68672772-68672773	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs187787675	chr5:68672781-68672782	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534520711	chr5:68672812-68672813	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs79719855	chr5:68672826-68672827	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191886058	chr5:68672832-68672833	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs538434400	chr5:68672859-68672860	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373847980	chr5:68672872-68672873	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184505567	chr5:68672882-68672883	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574965596	chr5:68672903-68672904	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs542315700	chr5:68672917-68672918	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs377194239	chr5:68672923-68672924	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186978117	chr5:68672949-68672950	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572309675	chr5:68673076-68673077	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540524347	chr5:68673095-68673096	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs542238964	chr5:68673111-68673112	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191828331	chr5:68673133-68673134	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs28570129	chr5:68673166-68673167	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs543986816	chr5:68673169-68673170	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs142453690	chr5:68673170-68673171	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529759173	chr5:68673185-68673186	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535502003	chr5:68673191-68673192	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369289526	chr5:68673224-68673225	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145604902	chr5:68673242-68673243	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs28653667	chr5:68673248-68673249	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
40	rs200494372	chr5:68673266-68673267	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373632198	chr5:68673267-68673268	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs28412286	chr5:68673268-68673269	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
43	rs368792051	chr5:68673280-68673281	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs201976432	chr5:68673282-68673283	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377064660	chr5:68673284-68673285	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs372928217	chr5:68673286-68673287	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs199776592	chr5:68673303-68673304	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371226581	chr5:68673314-68673315	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs200152285	chr5:68673315-68673316	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs28459551	chr5:68673334-68673335	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68666200-68672800	Weak transcription	Small Intestine	intestine
2	chr5:68666200-68678000	Weak transcription	Spleen	Spleen
3	chr5:68666600-68672600	Weak transcription	Left Ventricle	heart
4	chr5:68666600-68677800	Weak transcription	Colonic Mucosa	Colon
5	chr5:68666600-68677800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:68666600-68681000	Weak transcription	Lung	lung
7	chr5:68666600-68689600	Weak transcription	Aorta	Aorta
8	chr5:68666600-68689800	Weak transcription	Gastric	stomach
9	chr5:68666600-68689800	Weak transcription	Right Ventricle	heart
10	chr5:68666600-68696200	Weak transcription	Pancreas	Pancrea
11	chr5:68666600-68705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:68666600-68710800	Weak transcription	Esophagus	oesophagus
13	chr5:68666800-68672600	Weak transcription	Fetal Stomach	stomach
14	chr5:68666800-68676600	Weak transcription	Thymus	Thymus
15	chr5:68666800-68677800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:68666800-68677800	Weak transcription	Fetal Kidney	kidney
17	chr5:68666800-68710600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:68666800-68710600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:68666800-68710800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:68666800-68710800	Weak transcription	Psoas Muscle	Psoas
21	chr5:68667000-68673600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:68667000-68674400	Weak transcription	HMEC	breast
23	chr5:68667000-68677800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:68667000-68684600	Weak transcription	Fetal Heart	heart
25	chr5:68667000-68690400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:68667200-68710400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:68667200-68710800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:68667800-68674200	Weak transcription	A549	lung
29	chr5:68667800-68677800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:68667800-68679600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:68667800-68710600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:68668000-68713000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:68668200-68673800	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:68668200-68674200	Weak transcription	Brain Anterior Caudate	brain
35	chr5:68668800-68683600	Weak transcription	Fetal Brain Male	brain
36	chr5:68668800-68712400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:68669200-68681800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr5:68669400-68673200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:68669600-68673000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:68669600-68673400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:68669600-68674800	Strong transcription	Placenta	Placenta
42	chr5:68669600-68674800	Strong transcription	Dnd41	blood
43	chr5:68669600-68675000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:68669600-68675000	Strong transcription	Osteobl	bone
45	chr5:68669600-68675200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:68669600-68697600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:68669600-68701200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:68669600-68702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:68669600-68702800	Strong transcription	Liver	Liver
50	chr5:68669800-68672600	Strong transcription	Primary hematopoietic stem cells	blood

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