Variant report

Variant	rs1446706
Chromosome Location	chr2:77233822-77233823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12713886	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12713890	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12713891	0.91[EUR][1000 genomes]
rs12987907	0.83[JPT][hapmap]
rs12992834	0.82[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs13013784	0.91[JPT][hapmap]
rs13021476	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs13033902	0.95[CEU][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes]
rs13034088	0.95[CEU][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13388552	0.95[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13389562	0.91[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs13397044	0.84[CEU][hapmap]
rs13406560	0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1348828	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1348829	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1374390	0.80[JPT][hapmap]
rs1374392	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs1374393	0.82[CHB][hapmap]
rs1374394	0.95[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs1446689	0.84[CEU][hapmap]
rs1446690	0.85[CEU][hapmap]
rs1446694	0.90[CEU][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1446700	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs1446702	0.92[JPT][hapmap]
rs1446704	0.83[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes]
rs1446713	0.85[EUR][1000 genomes]
rs1446714	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs1446717	0.90[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1446718	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs1446720	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs1542187	1.00[CEU][hapmap]
rs17013458	0.86[CHB][hapmap]
rs17013592	0.83[JPT][hapmap]
rs17013595	0.83[JPT][hapmap]
rs17013599	0.92[JPT][hapmap]
rs17013615	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17040496	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs17040500	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17089	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1838879	0.89[EUR][1000 genomes]
rs1900342	0.85[CEU][hapmap]
rs1950122	0.81[CHB][hapmap]
rs1982341	0.85[CEU][hapmap]
rs2044485	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs34287182	0.83[EUR][1000 genomes]
rs34577944	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34632326	0.85[AFR][1000 genomes]
rs35458070	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35659577	0.83[AFR][1000 genomes]
rs4510248	0.84[CEU][hapmap]
rs4853290	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58936967	0.89[EUR][1000 genomes]
rs6547106	0.85[EUR][1000 genomes]
rs6547107	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs6547108	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs6547109	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs6547111	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs6547113	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6706194	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6724799	0.92[EUR][1000 genomes]
rs6737296	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs6741095	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6750979	0.85[EUR][1000 genomes]
rs6758707	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs72823154	0.89[EUR][1000 genomes]
rs7556871	0.85[EUR][1000 genomes]
rs7561189	0.90[CEU][hapmap]
rs7569919	0.94[EUR][1000 genomes]
rs7569994	0.92[EUR][1000 genomes]
rs7591186	0.92[JPT][hapmap]
rs7595678	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7604936	0.92[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv519950	chr2:77213103-77256291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv997284	chr2:77233426-77303198	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77231600-77234600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:77231600-77234800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:77231600-77235800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:77232000-77245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:77232600-77238200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:77232800-77238000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:77233600-77234000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:77233600-77234200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:77233600-77235200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:77233600-77237200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:77233800-77234000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:77233800-77234000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:77233800-77234000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:77233800-77234000	Bivalent Enhancer	Esophagus	oesophagus
15	chr2:77233800-77234600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:77233800-77234800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:77233800-77235800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:77233800-77236000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:77233800-77236800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:77233800-77237000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:77233800-77237000	Enhancers	HUVEC	blood vessel

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