Variant report

Variant	rs13429191
Chromosome Location	chr2:180099062-180099063
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180091710..180093707-chr2:180097296..180099649,3	MCF-7	breast:
2	chr2:180099014..180101971-chr2:180103448..180105283,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10172589	0.85[ASN][1000 genomes]
rs10173853	1.00[AMR][1000 genomes]
rs10176828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10178559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10186707	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10207754	1.00[AMR][1000 genomes]
rs10208882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10209875	0.90[ASN][1000 genomes]
rs10210749	0.81[ASN][1000 genomes]
rs10221811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12328593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12329222	0.81[AFR][1000 genomes]
rs12611473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12612427	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12613089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12616452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12617364	1.00[AMR][1000 genomes]
rs12618724	1.00[ASN][1000 genomes]
rs12622434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13382573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387502	1.00[ASN][1000 genomes]
rs13391187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13394908	1.00[AMR][1000 genomes]
rs13395559	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13408774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13412820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13417112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13422693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13424092	0.80[ASN][1000 genomes]
rs16866630	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28508327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35041512	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6734127	1.00[AMR][1000 genomes]
rs7581898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7588135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7601965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7608106	0.85[ASN][1000 genomes]
rs9288024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1798738	chr2:180084168-180100584	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
2	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:180083800-180102200	Weak transcription	HMEC	breast
4	chr2:180089600-180115200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:180089800-180100200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:180089800-180100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:180089800-180102000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:180090000-180102000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:180090600-180102000	Weak transcription	Psoas Muscle	Psoas
10	chr2:180090600-180102400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:180091200-180102400	Weak transcription	Left Ventricle	heart
12	chr2:180091200-180104600	Weak transcription	Right Ventricle	heart
13	chr2:180091600-180100400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:180091800-180100200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:180091800-180100600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:180091800-180101800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:180091800-180102000	Weak transcription	Fetal Brain Male	brain
18	chr2:180091800-180102200	Weak transcription	Fetal Brain Female	brain
19	chr2:180091800-180102200	Weak transcription	Fetal Heart	heart
20	chr2:180091800-180102400	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:180091800-180127200	Weak transcription	Fetal Lung	lung
22	chr2:180092000-180102800	Weak transcription	Fetal Intestine Large	intestine
23	chr2:180092200-180100200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:180092200-180100400	Weak transcription	Brain Germinal Matrix	brain
25	chr2:180092200-180101800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:180092200-180102400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:180092600-180099400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:180092600-180099800	Weak transcription	Brain Substantia Nigra	brain
29	chr2:180092600-180100600	Weak transcription	Aorta	Aorta
30	chr2:180092800-180100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:180092800-180100600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:180092800-180102000	Weak transcription	Right Atrium	heart
33	chr2:180092800-180102000	Weak transcription	NHLF	lung
34	chr2:180092800-180104600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:180092800-180112400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:180093000-180100200	Weak transcription	Adipose Nuclei	Adipose
37	chr2:180093000-180100200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:180093000-180107800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:180093200-180100400	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:180093400-180099400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:180093400-180100200	Weak transcription	Brain Anterior Caudate	brain
42	chr2:180094000-180100200	Weak transcription	NHDF-Ad	bronchial
43	chr2:180094000-180102000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:180094200-180099200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:180094200-180100600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:180094200-180102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:180094400-180100000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:180095200-180100200	Weak transcription	Osteobl	bone
49	chr2:180095200-180104000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:180095400-180099800	Weak transcription	Muscle Satellite Cultured Cells	--

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