Variant report

Variant	rs1065745
Chromosome Location	chr4:3123074-3123075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3122978..3125681-chr4:3127694..3131057,3	K562	blood:
2	chr4:3112475..3121644-chr4:3122211..3126506,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10021254	1.00[ASN][1000 genomes]
rs10034669	1.00[ASN][1000 genomes]
rs10155264	1.00[ASN][1000 genomes]
rs10488840	1.00[ASN][1000 genomes]
rs16843803	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843824	1.00[MEX][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844026	1.00[ASN][1000 genomes]
rs16844028	1.00[ASN][1000 genomes]
rs17780617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003530	1.00[ASN][1000 genomes]
rs28436280	1.00[ASN][1000 genomes]
rs28507598	1.00[ASN][1000 genomes]
rs28643391	1.00[ASN][1000 genomes]
rs3025825	1.00[ASN][1000 genomes]
rs3025849	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3025851	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34045730	1.00[ASN][1000 genomes]
rs34591077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362269	1.00[ASN][1000 genomes]
rs362278	1.00[ASN][1000 genomes]
rs362303	1.00[ASN][1000 genomes]
rs362304	1.00[ASN][1000 genomes]
rs362305	1.00[ASN][1000 genomes]
rs362310	1.00[ASN][1000 genomes]
rs362323	1.00[ASN][1000 genomes]
rs362325	1.00[ASN][1000 genomes]
rs363065	0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363067	0.84[ASW][hapmap];0.90[GIH][hapmap];0.84[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs363068	0.94[YRI][hapmap];1.00[EUR][1000 genomes]
rs363069	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363070	1.00[ASW][hapmap];0.90[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs363071	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363074	0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs363078	0.81[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs363082	0.84[ASW][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap]
rs363084	1.00[ASW][hapmap];0.90[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363087	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363089	0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363094	1.00[ASN][1000 genomes]
rs363095	1.00[ASN][1000 genomes]
rs363103	0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363104	0.84[EUR][1000 genomes]
rs363105	0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363128	1.00[ASN][1000 genomes]
rs56794194	1.00[ASN][1000 genomes]
rs57196404	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59588638	1.00[ASN][1000 genomes]
rs61460614	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61583241	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790489	1.00[ASN][1000 genomes]
rs61790490	1.00[ASN][1000 genomes]
rs61792472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792477	1.00[ASN][1000 genomes]
rs61792500	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792501	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792502	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792503	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792509	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792510	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61792512	1.00[ASN][1000 genomes]
rs61792513	0.87[AFR][1000 genomes]
rs61792515	1.00[ASN][1000 genomes]
rs61792531	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792532	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792533	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829069	0.81[GIH][hapmap]
rs73073018	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674122	1.00[ASN][1000 genomes]
rs7682324	0.94[AFR][1000 genomes]
rs7683309	1.00[ASN][1000 genomes]
rs7686771	1.00[ASN][1000 genomes]
rs7692292	1.00[EUR][1000 genomes]
rs7699037	1.00[ASN][1000 genomes]
rs9993781	1.00[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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3088200-3164200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr4:3094400-3123400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:3097200-3143400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:3097200-3162200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:3097400-3163800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:3098000-3162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:3100000-3159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:3101000-3124200	Strong transcription	Fetal Intestine Large	intestine
9	chr4:3101000-3124400	Strong transcription	Thymus	Thymus
10	chr4:3101600-3124200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:3105400-3123800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr4:3105400-3124800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:3106400-3123400	Strong transcription	Primary T cells from cord blood	blood
14	chr4:3106400-3123800	Strong transcription	Fetal Thymus	thymus
15	chr4:3106400-3145000	Strong transcription	Dnd41	blood
16	chr4:3106800-3125200	Strong transcription	Primary B cells from cord blood	blood
17	chr4:3108600-3125800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr4:3108600-3136600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:3108600-3163000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr4:3108800-3123600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:3108800-3164600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr4:3109000-3123200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:3109000-3123600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:3109000-3124200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:3109200-3123200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr4:3109200-3142600	Strong transcription	GM12878-XiMat	blood
27	chr4:3109400-3124600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr4:3109400-3130400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:3110400-3123400	Weak transcription	Stomach Mucosa	stomach
30	chr4:3110600-3123400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:3111600-3125400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr4:3112600-3124200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:3112800-3124200	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr4:3113800-3124200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
36	chr4:3114800-3162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:3115800-3143400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:3115800-3161600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:3115800-3162800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:3116000-3136200	Strong transcription	Liver	Liver
41	chr4:3116600-3124200	Strong transcription	Brain Angular Gyrus	brain
42	chr4:3116600-3124400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:3116600-3124800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:3116800-3124200	Strong transcription	Brain Germinal Matrix	brain
45	chr4:3116800-3126000	Strong transcription	HepG2	liver
46	chr4:3117000-3125400	Strong transcription	Fetal Brain Female	brain
47	chr4:3117800-3129000	Weak transcription	Psoas Muscle	Psoas
48	chr4:3118200-3124000	Strong transcription	Osteobl	bone
49	chr4:3118200-3128600	Weak transcription	Small Intestine	intestine
50	chr4:3118400-3123600	Weak transcription	NHEK	skin

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