Variant report

Variant	rs1493698
Chromosome Location	chr1:120531133-120531134
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	chr1:120519289..120523601-chr1:120528205..120531823,5	MCF-7	breast:
2	chr1:120529008..120531622-chr1:120534820..120537508,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10494235	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923926	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923929	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493695	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493696	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453042	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453044	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453055	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2453056	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487568	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493398	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493410	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493411	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493416	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2493419	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493420	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641316	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2641338	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793823	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2793827	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793830	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4659250	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5025718	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688004	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs699780	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835573	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835574	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947273	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120468600-120532800	Weak transcription	Stomach Mucosa	stomach
2	chr1:120491200-120538800	Weak transcription	Fetal Brain Male	brain
3	chr1:120509000-120533000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:120509800-120557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:120510200-120532800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:120510200-120538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:120510200-120552200	Weak transcription	HUVEC	blood vessel
8	chr1:120510800-120532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:120510800-120533000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:120510800-120557400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:120511600-120557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:120512400-120543600	Weak transcription	Fetal Intestine Small	intestine
13	chr1:120512600-120532800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:120514400-120543400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:120514400-120549400	Weak transcription	Gastric	stomach
16	chr1:120515000-120532800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:120518800-120533000	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:120521200-120549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:120523800-120546800	Weak transcription	Esophagus	oesophagus
20	chr1:120524400-120543600	Weak transcription	Spleen	Spleen
21	chr1:120525600-120532800	Weak transcription	Fetal Stomach	stomach
22	chr1:120525600-120557800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:120526200-120532800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:120527600-120533000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:120527600-120550000	Weak transcription	Lung	lung
26	chr1:120527800-120532800	Weak transcription	Ovary	ovary
27	chr1:120527800-120542400	Weak transcription	Brain Germinal Matrix	brain
28	chr1:120527800-120558200	Weak transcription	Brain Angular Gyrus	brain
29	chr1:120528000-120532800	Weak transcription	Fetal Kidney	kidney
30	chr1:120529000-120531800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:120529200-120531600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:120529200-120531600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:120529200-120531600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr1:120529200-120531800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:120529200-120532000	Weak transcription	Colonic Mucosa	Colon
36	chr1:120529400-120531200	Enhancers	A549	lung
37	chr1:120529400-120531800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:120529400-120531800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:120529400-120531800	Enhancers	Psoas Muscle	Psoas
40	chr1:120529400-120532800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:120529400-120532800	Weak transcription	Fetal Heart	heart
42	chr1:120529600-120531400	Enhancers	Aorta	Aorta
43	chr1:120529600-120531600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:120529600-120531600	Enhancers	Fetal Thymus	thymus
45	chr1:120529600-120531600	Enhancers	GM12878-XiMat	blood
46	chr1:120529600-120531800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:120529600-120531800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:120529600-120531800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:120529600-120531800	Enhancers	Small Intestine	intestine
50	chr1:120529600-120531800	Enhancers	Hela-S3	cervix

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