Variant report

Variant	rs1430168
Chromosome Location	chr2:134119560-134119561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10165601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10171473	0.92[ASN][1000 genomes]
rs10171952	0.81[CEU][hapmap]
rs10175744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10180047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10182656	0.88[ASN][1000 genomes]
rs10184630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10191826	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10193087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10193730	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10196395	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10204436	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10204527	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10206474	0.92[ASN][1000 genomes]
rs10469580	0.82[ASN][1000 genomes]
rs10928451	0.91[ASN][1000 genomes]
rs11890293	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11898252	0.91[ASN][1000 genomes]
rs12327930	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12328723	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12328976	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13392676	0.81[CEU][hapmap]
rs13392963	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13396831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13396930	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13400561	0.92[ASN][1000 genomes]
rs13400743	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs13406057	0.88[CEU][hapmap];0.89[CHB][hapmap];0.91[ASN][1000 genomes]
rs13406354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13407205	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13407503	0.87[CEU][hapmap];0.88[CHB][hapmap];0.91[ASN][1000 genomes]
rs13408835	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13409478	0.93[CEU][hapmap]
rs13411233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13412956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13414823	0.93[CEU][hapmap]
rs13421761	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13426157	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13426681	0.89[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13432602	0.93[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1346776	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1369509	0.88[CHB][hapmap]
rs1369510	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1430165	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs1430166	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1430167	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435554	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1435556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1435563	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1435564	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1435565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1435566	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1561018	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16824299	0.88[CHB][hapmap]
rs16824301	0.88[ASN][1000 genomes]
rs16824303	0.88[ASN][1000 genomes]
rs16824511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16824573	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17745593	0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17745851	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17802295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1898008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2115864	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2164326	0.83[ASN][1000 genomes]
rs2289075	0.88[CHB][hapmap];0.92[ASN][1000 genomes]
rs2304404	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28445548	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4588241	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs55788182	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56410092	0.85[ASN][1000 genomes]
rs58489491	0.91[ASN][1000 genomes]
rs62177662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62177669	0.91[ASN][1000 genomes]
rs62177672	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62180011	0.92[ASN][1000 genomes]
rs62180012	0.92[ASN][1000 genomes]
rs62180016	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62180017	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7573164	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9287426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9808392	0.93[CEU][hapmap]
rs990476	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014718	chr2:134067133-134151633	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv522324	chr2:134085665-134174032	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134116400-134120000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134117000-134125000	Weak transcription	Right Atrium	heart
3	chr2:134117400-134119600	Weak transcription	Fetal Brain Female	brain
4	chr2:134118000-134121400	Enhancers	Brain Hippocampus Middle	brain
5	chr2:134118200-134119600	Weak transcription	Right Ventricle	heart
6	chr2:134118200-134126400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:134118600-134119600	Enhancers	Hela-S3	cervix
8	chr2:134118600-134119600	Enhancers	HMEC	breast
9	chr2:134118600-134120000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:134118600-134120400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:134118600-134120800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:134118800-134119600	Enhancers	Brain Substantia Nigra	brain
13	chr2:134118800-134119800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:134118800-134123000	Weak transcription	Fetal Brain Male	brain
15	chr2:134119000-134119600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:134119000-134120000	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:134119000-134120000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:134119200-134119600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:134119200-134119600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:134119200-134119600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:134119200-134119600	Enhancers	NH-A	brain
22	chr2:134119200-134119600	Enhancers	NHDF-Ad	bronchial
23	chr2:134119200-134119600	Enhancers	NHEK	skin
24	chr2:134119200-134119800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:134119200-134120200	Enhancers	Brain Angular Gyrus	brain
26	chr2:134119200-134120200	Enhancers	Brain Anterior Caudate	brain
27	chr2:134119200-134120400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:134119200-134120400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:134119400-134119600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:134119400-134119600	Enhancers	Muscle Satellite Cultured Cells	--

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