Variant report

Variant	nsv968949
Chromosome Location	chr5:74095023-74095806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574392708	chr5:74095043-74095044	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs537209747	chr5:74095108-74095109	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs540212140	chr5:74095128-74095129	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs184846076	chr5:74095146-74095147	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs147817207	chr5:74095156-74095157	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs112444756	chr5:74095159-74095160	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs189726036	chr5:74095164-74095165	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs573168577	chr5:74095194-74095195	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs545092948	chr5:74095265-74095266	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs565002121	chr5:74095368-74095369	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs6859014	chr5:74095419-74095420	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs544350288	chr5:74095422-74095423	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561139465	chr5:74095439-74095440	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs10942720	chr5:74095451-74095452	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547259869	chr5:74095490-74095491	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs560651821	chr5:74095491-74095492	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112715713	chr5:74095516-74095517	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181701072	chr5:74095525-74095526	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114168901	chr5:74095532-74095533	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs10044287	chr5:74095542-74095543	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs6885675	chr5:74095579-74095580	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs550742040	chr5:74095588-74095589	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567453068	chr5:74095594-74095595	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs536085836	chr5:74095597-74095598	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs386689105	chr5:74095616-74095617	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs146631482	chr5:74095625-74095626	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12656070	chr5:74095639-74095640	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs145758629	chr5:74095646-74095647	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs375308591	chr5:74095675-74095676	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558530130	chr5:74095704-74095705	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs370232411	chr5:74095706-74095707	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs16878945	chr5:74095718-74095719	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs562001090	chr5:74095735-74095736	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544287235	chr5:74095749-74095750	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554680594	chr5:74095754-74095755	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs372830213	chr5:74095773-74095774	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs559588537	chr5:74095785-74095786	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs527711696	chr5:74095798-74095799	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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	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
Ovarian cancer	21720365	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
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74064000-74112400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:74064200-74102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:74064400-74134600	Weak transcription	Fetal Brain Male	brain
4	chr5:74064800-74101200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:74066600-74112800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:74069000-74153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:74069600-74102600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:74069800-74097000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:74070000-74097000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:74070000-74111600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:74071400-74095200	Weak transcription	Spleen	Spleen
12	chr5:74072400-74095600	Weak transcription	Left Ventricle	heart
13	chr5:74074200-74102600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:74074800-74097200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:74074800-74097400	Weak transcription	Liver	Liver
16	chr5:74074800-74102200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:74074800-74143400	Weak transcription	Primary B cells from cord blood	blood
18	chr5:74076400-74095400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:74081200-74101200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:74081200-74101200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:74081400-74097800	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr5:74081400-74101400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:74081600-74098000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:74081600-74098600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:74081800-74101200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:74082400-74097800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr5:74083200-74098000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:74084200-74095400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:74085800-74098000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:74086600-74097400	Weak transcription	Aorta	Aorta
31	chr5:74087000-74095200	Weak transcription	Fetal Stomach	stomach
32	chr5:74087000-74097000	Weak transcription	Brain Germinal Matrix	brain
33	chr5:74087200-74095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:74087200-74096400	Weak transcription	Fetal Brain Female	brain
35	chr5:74087600-74112000	Weak transcription	A549	lung
36	chr5:74087600-74130000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:74088800-74097000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:74088800-74101200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:74090800-74099200	Strong transcription	HepG2	liver
40	chr5:74091000-74097800	Strong transcription	Dnd41	blood
41	chr5:74091400-74098200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:74092600-74095800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr5:74092800-74096400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:74092800-74096400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:74093200-74095400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:74093200-74096000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:74093400-74096000	Strong transcription	Thymus	Thymus
48	chr5:74093400-74096400	Strong transcription	NHEK	skin
49	chr5:74093800-74096400	Strong transcription	Fetal Thymus	thymus
50	chr5:74094000-74096400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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