Variant report

Variant	rs1021281
Chromosome Location	chr2:186924185-186924186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10175720	0.91[JPT][hapmap]
rs10181623	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186776	0.82[JPT][hapmap]
rs10193665	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10193729	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10195904	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1021280	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10804002	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10931221	0.84[ASN][1000 genomes]
rs10931222	0.91[JPT][hapmap]
rs11689385	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615701	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12616050	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388196	0.91[JPT][hapmap]
rs13417421	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13419562	0.91[JPT][hapmap]
rs13420379	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs13427402	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1386519	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1487351	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16827445	0.85[ASN][1000 genomes]
rs2029234	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046591	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2370661	0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs2370670	0.91[JPT][hapmap]
rs28492747	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2887815	0.84[AMR][1000 genomes]
rs33920466	0.81[AMR][1000 genomes]
rs36093799	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3919953	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477870	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4591311	0.91[JPT][hapmap]
rs4667076	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434158	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6434159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6715226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7560697	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7566117	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566161	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586293	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7586724	0.88[AMR][1000 genomes]
rs7590910	0.88[ASN][1000 genomes]
rs7602735	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7605905	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875161	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs878845	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1002243	chr2:186692815-187150225	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv536077	chr2:186692815-187150225	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv875547	chr2:186798249-187014815	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv875548	chr2:186798249-187164657	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv875550	chr2:186807268-186965143	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv875551	chr2:186844579-186965143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1007635	chr2:186847770-186947882	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1001737	chr2:186847770-186953324	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1007803	chr2:186847770-186959288	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv431846	chr2:186848494-186945624	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv431835	chr2:186848494-186960817	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1005089	chr2:186848664-186953324	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv584026	chr2:186851224-186944663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv584027	chr2:186851224-186954427	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv584028	chr2:186851224-186965143	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv584029	chr2:186851224-186971595	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv584030	chr2:186915437-187001076	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186907400-186933200	Weak transcription	Pancreas	Pancrea
2	chr2:186911400-186933000	Weak transcription	Psoas Muscle	Psoas
3	chr2:186920000-186925200	Weak transcription	HSMM	muscle
4	chr2:186923000-186924200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:186923000-186924200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:186923000-186924200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:186923000-186924200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:186923400-186924200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:186923400-186924200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:186923400-186924200	Enhancers	Fetal Brain Female	brain
11	chr2:186923400-186924200	Enhancers	Fetal Lung	lung
12	chr2:186923400-186924200	Enhancers	Fetal Stomach	stomach
13	chr2:186923400-186924200	Enhancers	Right Atrium	heart
14	chr2:186923400-186924400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:186923600-186924200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:186923600-186924200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:186923600-186924200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:186923600-186924200	Enhancers	Liver	Liver
19	chr2:186923600-186924200	Enhancers	Brain Angular Gyrus	brain
20	chr2:186923600-186924200	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr2:186923600-186924200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:186923600-186924400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:186923600-186924400	Enhancers	Fetal Heart	heart
24	chr2:186923600-186924800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:186923600-186925000	Enhancers	Brain Anterior Caudate	brain
26	chr2:186923600-186926600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:186923800-186924200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:186923800-186924200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:186923800-186924200	Enhancers	Adipose Nuclei	Adipose
30	chr2:186923800-186924200	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr2:186923800-186924200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr2:186923800-186924200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr2:186923800-186924200	Enhancers	Ovary	ovary
34	chr2:186923800-186924200	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:186923800-186924200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:186923800-186924200	Enhancers	HUVEC	blood vessel
37	chr2:186923800-186924800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:186923800-186926000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:186924000-186924400	Enhancers	Fetal Kidney	kidney
40	chr2:186924000-186924400	Enhancers	HSMMtube	muscle

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