Variant report

Variant	rs1817869
Chromosome Location	chr5:74989037-74989038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74987714..74990328-chr5:75012640..75014673,2	MCF-7	breast:
2	chr5:74980503..74982901-chr5:74987691..74991437,3	K562	blood:
3	chr5:74972829..74974939-chr5:74988828..74991642,2	K562	blood:
4	chr5:74986971..74989471-chr5:74989787..74992402,2	MCF-7	breast:
5	chr5:74983383..74985816-chr5:74986584..74989106,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10462356	1.00[CHB][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10462521	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746063	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11748378	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs166183	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563863	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193344	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194137	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047059	0.91[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2307113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253388	0.86[CEU][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs253389	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34905687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797580	0.83[CEU][hapmap]
rs40059	0.84[EUR][1000 genomes]
rs41534344	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703678	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4703679	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703680	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704234	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59778668	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60134294	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60423072	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61173369	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66493518	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67054144	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67803720	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868069	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633978	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633979	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7381033	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74963000-74989800	Weak transcription	Esophagus	oesophagus
2	chr5:74964800-74989400	Weak transcription	HSMMtube	muscle
3	chr5:74965000-74991200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:74965000-74998000	Weak transcription	Fetal Brain Female	brain
5	chr5:74965200-75011800	Weak transcription	Brain Germinal Matrix	brain
6	chr5:74965400-74997800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
10	chr5:74965600-74998200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:74965600-74998200	Weak transcription	Fetal Heart	heart
12	chr5:74965600-75010400	Weak transcription	Gastric	stomach
13	chr5:74965600-75011400	Weak transcription	Small Intestine	intestine
14	chr5:74965800-74991800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:74966000-74991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:74966000-74998400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:74967200-74989600	Weak transcription	Hela-S3	cervix
18	chr5:74968800-74998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:74969000-74991600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:74971000-74997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
22	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
23	chr5:74974400-74997800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:74976600-74998200	Weak transcription	Colonic Mucosa	Colon
25	chr5:74977200-74997600	Weak transcription	Fetal Kidney	kidney
26	chr5:74977200-74997800	Weak transcription	Brain Angular Gyrus	brain
27	chr5:74977400-74997600	Weak transcription	NHEK	skin
28	chr5:74977400-74997800	Weak transcription	NHDF-Ad	bronchial
29	chr5:74978000-74991400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:74978200-74997600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:74978800-74989600	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:74978800-74992000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr5:74978800-74992200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:74978800-74997600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:74979000-74997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:74979000-75003800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:74979400-74991000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:74979800-74998400	Weak transcription	Ovary	ovary
39	chr5:74980000-74989400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr5:74980000-74991600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:74980000-75012200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:74980800-74991400	Strong transcription	Dnd41	blood
43	chr5:74981000-74990200	Strong transcription	Primary B cells from cord blood	blood
44	chr5:74981000-74991200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:74981000-74991200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:74981200-74991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:74981400-74989800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:74981400-74991600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:74981400-74997600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:74981400-74997800	Weak transcription	Brain Hippocampus Middle	brain

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