Variant report

Variant	nsv598675
Chromosome Location	chr5:74816849-74831615
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74805305..74807843-chr5:74822655..74824255,2	MCF-7	breast:
2	chr5:74808217..74810593-chr5:74816041..74817596,2	K562	blood:
3	chr5:74818089..74820423-chr5:74844136..74846157,2	MCF-7	breast:
4	chr5:74819271..74821743-chr5:74831867..74834038,2	MCF-7	breast:
5	chr5:74793165..74795664-chr5:74814824..74817209,2	K562	blood:
6	chr5:74820287..74822535-chr5:74827846..74830107,2	K562	blood:
7	chr5:74808667..74810597-chr5:74818060..74820048,3	K562	blood:
8	chr5:74815294..74818982-chr5:74820247..74823584,4	K562	blood:
9	chr5:74806414..74809041-chr5:74824381..74827349,2	K562	blood:
10	chr5:74820287..74822535-chr5:74827846..74830107,2	K562	blood:
11	chr5:74828971..74830534-chr5:74850595..74852572,2	K562	blood:
12	chr5:74805731..74808646-chr5:74817149..74819644,4	MCF-7	breast:
13	chr5:74811101..74813110-chr5:74815287..74817345,2	K562	blood:
14	chr5:74815294..74818982-chr5:74820247..74823584,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122008	chromatin interactions
ENSG00000113163	chromatin interactions

Extended variants
information (count: 515 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200660450	chr5:74816849-74816850	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529356079	chr5:74816855-74816856	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55986708	chr5:74816931-74816932	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs5744552	chr5:74816944-74816945	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370089352	chr5:74816945-74816946	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs5744553	chr5:74816968-74816969	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3094245	chr5:74816995-74816996	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5744554	chr5:74817015-74817016	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534998546	chr5:74817063-74817064	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551645547	chr5:74817097-74817098	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373759195	chr5:74817134-74817135	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563565824	chr5:74817191-74817192	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556300681	chr5:74817192-74817193	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs5744555	chr5:74817236-74817237	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs74898360	chr5:74817329-74817330	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147763355	chr5:74817389-74817390	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs3094246	chr5:74817394-74817395	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs141464333	chr5:74817405-74817406	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs75104496	chr5:74817439-74817440	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs5744557	chr5:74817520-74817521	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186727152	chr5:74817530-74817531	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372472601	chr5:74817567-74817568	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs200187724	chr5:74817593-74817594	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188954314	chr5:74817594-74817595	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556334950	chr5:74817703-74817704	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576093149	chr5:74817781-74817782	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563673433	chr5:74817791-74817792	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs145006551	chr5:74817806-74817807	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541839320	chr5:74817840-74817841	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543069386	chr5:74817855-74817856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs559739261	chr5:74817907-74817908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528655241	chr5:74817926-74817927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149083607	chr5:74817947-74817948	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs191925812	chr5:74817956-74817957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs183655037	chr5:74817997-74817998	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs531074043	chr5:74818023-74818024	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs377617472	chr5:74818047-74818048	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs374414890	chr5:74818098-74818099	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569586603	chr5:74818126-74818127	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572320312	chr5:74818134-74818135	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535206617	chr5:74818229-74818230	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555438346	chr5:74818248-74818249	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187850845	chr5:74818272-74818273	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143735471	chr5:74818285-74818286	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs138296662	chr5:74818370-74818371	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557951274	chr5:74818434-74818435	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs578016675	chr5:74818437-74818438	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543696399	chr5:74818449-74818450	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557090004	chr5:74818478-74818479	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563942480	chr5:74818555-74818556	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Spinal muscular atrophy	21762474	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	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
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74808200-74817600	Weak transcription	Esophagus	oesophagus
2	chr5:74808600-74817600	Weak transcription	Thymus	Thymus
3	chr5:74808600-74819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:74808800-74817600	Weak transcription	Aorta	Aorta
5	chr5:74808800-74817600	Weak transcription	Fetal Thymus	thymus
6	chr5:74808800-74817800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:74808800-74849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:74809000-74819600	Weak transcription	Placenta	Placenta
9	chr5:74809000-74820000	Weak transcription	Colonic Mucosa	Colon
10	chr5:74809400-74817600	Weak transcription	HSMM	muscle
11	chr5:74809400-74817800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:74809400-74830600	Weak transcription	Fetal Kidney	kidney
13	chr5:74809600-74817600	Weak transcription	HMEC	breast
14	chr5:74809600-74820600	Weak transcription	Brain Angular Gyrus	brain
15	chr5:74809600-74830200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:74809600-74839400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:74809800-74817600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:74809800-74817600	Weak transcription	NHLF	lung
19	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
20	chr5:74812400-74818400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:74813800-74818400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:74814000-74817800	Weak transcription	NH-A	brain
23	chr5:74814600-74818400	ZNF genes & repeats	GM12878-XiMat	blood
24	chr5:74815000-74817600	Weak transcription	Fetal Stomach	stomach
25	chr5:74815000-74817600	Weak transcription	Gastric	stomach
26	chr5:74815000-74817600	Weak transcription	Left Ventricle	heart
27	chr5:74815000-74817600	Weak transcription	Lung	lung
28	chr5:74815000-74817600	Weak transcription	Pancreas	Pancrea
29	chr5:74815000-74817800	Weak transcription	Right Atrium	heart
30	chr5:74815000-74819600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:74815000-74832200	Weak transcription	Right Ventricle	heart
32	chr5:74815400-74818000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:74815600-74818000	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr5:74815800-74817600	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr5:74816000-74817400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr5:74816000-74817800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr5:74816000-74818000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:74816000-74818400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr5:74816200-74817000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:74816200-74817800	ZNF genes & repeats	Fetal Lung	lung
41	chr5:74816200-74818000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:74816200-74818000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr5:74816200-74818000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr5:74816200-74818000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
45	chr5:74816200-74818000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:74816200-74818000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
47	chr5:74816200-74818000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
48	chr5:74816200-74818000	Strong transcription	Ovary	ovary
49	chr5:74816200-74818200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr5:74816200-74818200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links