Variant report

Variant	rs4704230
Chromosome Location	chr5:74986481-74986482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74986312..74988640-chr5:74991101..74992756,2	K562	blood:
2	chr5:74986233..74988640-chr5:74991256..74992996,3	K562	blood:
3	chr5:74980613..74983267-chr5:74984574..74986964,2	K562	blood:

Variant related genes	Relation type
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10057967	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16872768	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2112347	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2307111	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34358	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34359	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34360	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34361	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3797580	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40060	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs42302	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6864091	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6874626	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6881648	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs888789	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74961000-74987800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:74963000-74989800	Weak transcription	Esophagus	oesophagus
3	chr5:74964800-74989400	Weak transcription	HSMMtube	muscle
4	chr5:74965000-74991200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:74965000-74998000	Weak transcription	Fetal Brain Female	brain
6	chr5:74965200-75011800	Weak transcription	Brain Germinal Matrix	brain
7	chr5:74965400-74997800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
11	chr5:74965600-74998200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:74965600-74998200	Weak transcription	Fetal Heart	heart
13	chr5:74965600-75010400	Weak transcription	Gastric	stomach
14	chr5:74965600-75011400	Weak transcription	Small Intestine	intestine
15	chr5:74965800-74991800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:74966000-74991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:74966000-74998400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:74967200-74989600	Weak transcription	Hela-S3	cervix
19	chr5:74968800-74998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:74969000-74991600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:74971000-74997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
23	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
24	chr5:74974400-74997800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:74976600-74998200	Weak transcription	Colonic Mucosa	Colon
26	chr5:74977200-74997600	Weak transcription	Fetal Kidney	kidney
27	chr5:74977200-74997800	Weak transcription	Brain Angular Gyrus	brain
28	chr5:74977400-74997600	Weak transcription	NHEK	skin
29	chr5:74977400-74997800	Weak transcription	NHDF-Ad	bronchial
30	chr5:74978000-74991400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr5:74978200-74988200	Weak transcription	NHLF	lung
32	chr5:74978200-74997600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:74978800-74988200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:74978800-74989600	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:74978800-74992000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:74978800-74992200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:74978800-74997600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:74979000-74997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:74979000-75003800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:74979200-74986800	Strong transcription	Liver	Liver
41	chr5:74979200-74987000	Strong transcription	Fetal Thymus	thymus
42	chr5:74979400-74987200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr5:74979400-74991000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:74979600-74987000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:74979600-74987000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:74979800-74998400	Weak transcription	Ovary	ovary
47	chr5:74980000-74989400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:74980000-74991600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:74980000-75012200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:74980800-74987800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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