Variant report

Variant	rs5020591
Chromosome Location	chr4:76657236-76657237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76649274..76651334-chr4:76657157..76658668,2	MCF-7	breast:
2	chr4:76642183..76644584-chr4:76655445..76657261,2	MCF-7	breast:
3	chr4:76648622..76651912-chr4:76653743..76658788,6	MCF-7	breast:
4	chr4:76655795..76658592-chr4:76658878..76661383,2	K562	blood:

Variant related genes	Relation type
ENSG00000138757	Chromatin interaction
ENSG00000138768	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10009902	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10010519	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10014281	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10025315	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10028884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10029110	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11097070	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11729258	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11736474	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13116639	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13118426	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13119659	0.83[ASN][1000 genomes]
rs13133699	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13137468	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13138717	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1546539	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1548175	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1553984	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1553986	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1967495	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1967496	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs226416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280095	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2869174	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324682	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs324683	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs324685	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324689	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324692	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324695	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324724	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324725	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324737	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34385808	0.84[EUR][1000 genomes]
rs3796473	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3796485	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3853183	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3853184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3942252	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4349625	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs436611	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs443952	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4859403	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859542	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4859543	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859544	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4859545	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4859546	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859547	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859548	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4859550	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6419115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6531841	0.84[EUR][1000 genomes]
rs6531866	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6531867	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6531868	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6531889	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6531902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67474106	0.82[EUR][1000 genomes]
rs6826858	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6827809	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6835702	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6835819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855960	0.85[EUR][1000 genomes]
rs6858741	0.82[AMR][1000 genomes]
rs72651313	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7356270	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7356310	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7657871	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7659408	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7662940	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7672378	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7674063	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7674328	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7677150	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7685459	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7691385	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7691765	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7696241	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7698393	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9942164	0.82[AMR][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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76658600	Weak transcription	Brain Substantia Nigra	brain
2	chr4:76650800-76673400	Weak transcription	Lung	lung
3	chr4:76650800-76675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:76650800-76675800	Weak transcription	Esophagus	oesophagus
5	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:76651200-76660800	Weak transcription	Thymus	Thymus
7	chr4:76651200-76661400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:76651200-76663600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:76651400-76667000	Weak transcription	Gastric	stomach
10	chr4:76651800-76667000	Weak transcription	Primary B cells from cord blood	blood
11	chr4:76652000-76660600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:76652000-76673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:76652000-76675200	Weak transcription	Fetal Thymus	thymus
14	chr4:76652000-76675400	Weak transcription	Placenta	Placenta
15	chr4:76652000-76675600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:76652000-76675600	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:76652000-76675600	Weak transcription	Spleen	Spleen
18	chr4:76652000-76696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:76652200-76659200	Weak transcription	Fetal Stomach	stomach
20	chr4:76652200-76660400	Weak transcription	Right Ventricle	heart
21	chr4:76652200-76664400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:76652200-76670800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:76652200-76675600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:76652400-76660200	Weak transcription	HSMM	muscle
25	chr4:76652400-76660800	Weak transcription	Stomach Mucosa	stomach
26	chr4:76652400-76662000	Weak transcription	Brain Angular Gyrus	brain
27	chr4:76652400-76665600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:76652400-76675200	Weak transcription	Fetal Kidney	kidney
29	chr4:76652400-76675600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:76652400-76675800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:76652400-76675800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
33	chr4:76652600-76663200	Weak transcription	Fetal Intestine Small	intestine
34	chr4:76652600-76670000	Weak transcription	K562	blood
35	chr4:76652600-76675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:76652600-76675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:76652800-76670000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr4:76652800-76675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:76652800-76675600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:76652800-76675600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:76653000-76663600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:76653000-76669400	Weak transcription	HUVEC	blood vessel
43	chr4:76653200-76657400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:76653200-76658600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:76653200-76665600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:76653200-76665600	Weak transcription	A549	lung
47	chr4:76653200-76670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:76653200-76670600	Weak transcription	Primary T cells from cord blood	blood
49	chr4:76653200-76675200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:76653200-76675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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