Variant report

Variant	rs3765509
Chromosome Location	chr1:86818391-86818392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86817766..86820014-chr1:86820204..86822305,3	K562	blood:
2	chr1:86817633..86819266-chr1:86820612..86822159,2	K562	blood:

Variant related genes	Relation type
ENSG00000122417	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11161808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12022446	0.83[AMR][1000 genomes]
rs12023726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12023799	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12029568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12030666	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12032435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12034967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12037028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12037391	0.83[AMR][1000 genomes]
rs12038144	0.83[AMR][1000 genomes]
rs12038844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12039899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042822	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12043873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12044970	0.83[AMR][1000 genomes]
rs12045012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045465	0.83[AMR][1000 genomes]
rs12046199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12046894	0.83[AMR][1000 genomes]
rs12047304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12047305	0.92[ASN][1000 genomes]
rs12047913	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12048082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12048329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12747430	0.81[ASN][1000 genomes]
rs2274999	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28688345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28788025	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34204564	1.00[ASN][1000 genomes]
rs3737671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3820038	0.83[AMR][1000 genomes]
rs4497186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55857117	0.81[ASN][1000 genomes]
rs57955693	0.81[ASN][1000 genomes]
rs58658794	0.81[ASN][1000 genomes]
rs59775624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv1792405	chr1:86814270-86825639	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86806400-86823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:86808600-86842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:86810400-86819200	Weak transcription	NHLF	lung
4	chr1:86810600-86819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:86810800-86818600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:86810800-86819400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:86811200-86818800	Weak transcription	Fetal Thymus	thymus
8	chr1:86811200-86819000	Weak transcription	Fetal Lung	lung
9	chr1:86811600-86819000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:86812000-86818400	Weak transcription	NH-A	brain
11	chr1:86812000-86819200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:86813000-86819200	Weak transcription	Left Ventricle	heart
13	chr1:86813200-86819200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:86813600-86819400	Weak transcription	Osteobl	bone
15	chr1:86813800-86836400	Weak transcription	Lung	lung
16	chr1:86813800-86842600	Weak transcription	Fetal Heart	heart
17	chr1:86815000-86819000	Weak transcription	Fetal Intestine Large	intestine
18	chr1:86815200-86819000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:86815200-86860200	Weak transcription	Fetal Brain Male	brain
20	chr1:86815600-86819400	Weak transcription	Aorta	Aorta
21	chr1:86816000-86819200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:86816000-86819400	Weak transcription	Brain Germinal Matrix	brain
23	chr1:86816000-86842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:86816200-86819200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:86816200-86824200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:86816200-86826200	Weak transcription	A549	lung
27	chr1:86816400-86818800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:86816400-86819000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:86816400-86820400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:86816600-86818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:86816600-86819000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:86816800-86818600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:86816800-86819200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:86817000-86818400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:86817000-86818600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:86817000-86819200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:86817200-86818800	Weak transcription	Colonic Mucosa	Colon
38	chr1:86817200-86818800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:86817200-86818800	Weak transcription	Placenta	Placenta
40	chr1:86817200-86818800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:86817200-86818800	Weak transcription	Hela-S3	cervix
42	chr1:86817200-86819200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:86817200-86820400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:86817200-86820400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:86817200-86843800	Weak transcription	Small Intestine	intestine
46	chr1:86817400-86819000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:86817400-86819000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:86817400-86819000	Weak transcription	NHEK	skin
49	chr1:86817400-86819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:86817400-86819200	Weak transcription	Spleen	Spleen

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