Variant report

Variant	rs1434227
Chromosome Location	chr2:133897293-133897294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10165338	0.82[CHB][hapmap]
rs10169222	0.94[ASN][1000 genomes]
rs10172235	0.81[CHB][hapmap]
rs10184338	0.81[CHB][hapmap]
rs10198384	0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs12052290	0.82[CHB][hapmap]
rs13393417	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1368970	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1476150	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1560889	0.82[CHB][hapmap]
rs16856818	0.81[CHB][hapmap]
rs1836215	0.96[ASN][1000 genomes]
rs3795846	0.91[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs3795847	0.91[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs4144199	0.89[JPT][hapmap]
rs4375918	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs4437017	0.89[JPT][hapmap]
rs4953869	0.83[JPT][hapmap]
rs4953872	0.95[ASN][1000 genomes]
rs4953873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4954029	0.86[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4954031	0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6430399	0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs66498754	0.96[ASN][1000 genomes]
rs6712415	0.82[JPT][hapmap]
rs6712988	0.89[JPT][hapmap]
rs6713122	0.84[JPT][hapmap]
rs6716343	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6716533	0.89[JPT][hapmap]
rs6721293	0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs7558912	0.94[ASN][1000 genomes]
rs7559118	0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7561911	0.95[ASN][1000 genomes]
rs7608285	0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs9630920	0.86[CHB][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv834381	chr2:133722671-133897994	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv875139	chr2:133777866-133929225	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv949546	chr2:133798832-133933491	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv875140	chr2:133816484-133904829	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1008004	chr2:133827250-133954810	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv949629	chr2:133830379-134014961	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1001601	chr2:133838626-134005959	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv948851	chr2:133864452-133955999	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv583167	chr2:133864452-133957689	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv834383	chr2:133874257-133906766	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
14	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
15	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133885800-133897800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:133887800-133912600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:133892200-133897800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:133894200-133897800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:133895400-133898000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:133895800-133897400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:133895800-133898600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:133896000-133899400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:133896200-133899800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:133896400-133897400	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:133896400-133897600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:133896400-133897600	Enhancers	Brain Hippocampus Middle	brain
13	chr2:133896400-133898800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:133896600-133898800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:133896600-133899000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:133896800-133897400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:133896800-133897800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:133897000-133897400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:133897000-133897600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr2:133897000-133898000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:133897000-133900200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:133897200-133897400	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr2:133897200-133897600	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr2:133897200-133897800	Enhancers	Brain Angular Gyrus	brain
25	chr2:133897200-133898000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:133897200-133898000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:133897200-133898200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr2:133897200-133898800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:133897200-133899000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:133897200-133899600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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