Variant report

Variant	rs1474401
Chromosome Location	chr2:7331489-7331490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7330725..7333657-chr2:7333775..7335694,2	K562	blood:
2	chr2:7326218..7327860-chr2:7329938..7331497,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1016515	0.82[ASN][1000 genomes]
rs11676725	0.85[ASN][1000 genomes]
rs11680346	0.86[ASN][1000 genomes]
rs11695715	0.83[ASN][1000 genomes]
rs12612703	0.83[ASN][1000 genomes]
rs12621585	0.83[ASN][1000 genomes]
rs12623613	0.83[ASN][1000 genomes]
rs13002545	0.83[ASN][1000 genomes]
rs13007890	0.99[ASN][1000 genomes]
rs13023691	0.83[ASN][1000 genomes]
rs13035063	0.99[ASN][1000 genomes]
rs1404841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1404843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404844	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453131	0.93[EUR][1000 genomes]
rs1464879	0.85[ASN][1000 genomes]
rs1464880	0.91[JPT][hapmap]
rs1473656	0.88[ASN][1000 genomes]
rs1474402	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525491	0.85[ASN][1000 genomes]
rs1581562	0.85[ASN][1000 genomes]
rs17672986	0.99[ASN][1000 genomes]
rs1880604	0.99[ASN][1000 genomes]
rs1917675	0.85[ASN][1000 genomes]
rs1917676	0.85[ASN][1000 genomes]
rs1917677	0.85[ASN][1000 genomes]
rs1917680	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2352711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2352713	0.82[ASN][1000 genomes]
rs34130652	0.83[ASN][1000 genomes]
rs36034588	0.85[ASN][1000 genomes]
rs4356635	0.85[ASN][1000 genomes]
rs4362529	0.85[ASN][1000 genomes]
rs4362530	0.85[ASN][1000 genomes]
rs4668526	0.99[ASN][1000 genomes]
rs4668527	0.87[ASN][1000 genomes]
rs4669147	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669148	0.99[ASN][1000 genomes]
rs4669149	0.99[ASN][1000 genomes]
rs4669150	0.99[ASN][1000 genomes]
rs4669154	0.90[ASN][1000 genomes]
rs4669155	0.90[ASN][1000 genomes]
rs4669157	0.88[ASN][1000 genomes]
rs4669162	0.85[ASN][1000 genomes]
rs4669163	0.86[ASN][1000 genomes]
rs55914055	0.85[ASN][1000 genomes]
rs6711226	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6719090	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732488	0.83[ASN][1000 genomes]
rs6738582	0.81[ASN][1000 genomes]
rs6739202	0.85[ASN][1000 genomes]
rs6740536	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6744969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755106	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7557233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559257	0.90[JPT][hapmap]
rs7582053	0.95[EUR][1000 genomes]
rs7607300	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870863	0.85[ASN][1000 genomes]
rs960793	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3341770	chr2:7327201-7331599	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7321400-7331600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:7329400-7331800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:7329400-7332400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:7329600-7332000	Weak transcription	Fetal Kidney	kidney
5	chr2:7330200-7332000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:7330400-7332400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:7330400-7332400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:7330800-7332800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:7330800-7333200	Enhancers	NH-A	brain
10	chr2:7331000-7332600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:7331000-7341800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:7331200-7331600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:7331200-7331800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:7331200-7332000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:7331200-7332200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:7331200-7332800	Enhancers	HMEC	breast
17	chr2:7331400-7332800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:7331400-7332800	Enhancers	NHEK	skin
19	chr2:7331400-7333000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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