Variant report

Variant	rs2309815
Chromosome Location	chr2:100888275-100888276
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10170878	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10173499	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11886523	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463633	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12464433	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12464505	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12467008	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12472141	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13024601	1.00[JPT][hapmap]
rs13394110	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13397010	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13397337	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2309818	1.00[JPT][hapmap]
rs2309819	1.00[JPT][hapmap]
rs2309820	1.00[JPT][hapmap]
rs2309821	1.00[JPT][hapmap]
rs2309825	1.00[JPT][hapmap]
rs2309826	1.00[JPT][hapmap]
rs2871341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34044131	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55856206	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57328601	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60501704	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148117	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148118	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542923	1.00[JPT][hapmap]
rs6707358	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6724490	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6727712	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6754867	1.00[JPT][hapmap]
rs6755791	1.00[JPT][hapmap]
rs72821119	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72821120	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821122	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821124	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821125	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821126	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821130	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821133	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7421891	1.00[JPT][hapmap]
rs7601873	1.00[JPT][hapmap]
rs7607170	1.00[JPT][hapmap]
rs7609376	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100874600-100891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:100877600-100888600	Weak transcription	Ovary	ovary
3	chr2:100879400-100891200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:100879400-100896200	Weak transcription	Spleen	Spleen
5	chr2:100879400-100900200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:100880000-100891400	Weak transcription	Brain Germinal Matrix	brain
7	chr2:100880200-100898400	Weak transcription	A549	lung
8	chr2:100884200-100900200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:100884800-100897400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:100885400-100891200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:100885600-100898200	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:100885600-100902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:100886000-100891200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:100886400-100891000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:100887000-100889200	Weak transcription	Adipose Nuclei	Adipose
16	chr2:100887000-100900200	Weak transcription	Left Ventricle	heart
17	chr2:100887200-100891200	Weak transcription	Gastric	stomach
18	chr2:100887200-100898000	Weak transcription	Fetal Brain Female	brain
19	chr2:100887800-100890600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:100887800-100891200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:100887800-100891200	Weak transcription	Pancreas	Pancrea
22	chr2:100887800-100895000	Weak transcription	K562	blood
23	chr2:100887800-100901800	Weak transcription	Fetal Intestine Small	intestine
24	chr2:100888000-100888400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr2:100888000-100891200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:100888000-100898000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:100888200-100889000	Enhancers	Fetal Lung	lung
28	chr2:100888200-100889800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:100888200-100896000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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