Variant report

Variant	rs4893821
Chromosome Location	chr2:178229352-178229353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178222001..178225434-chr2:178226745..178229675,3	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10165785	0.86[ASN][1000 genomes]
rs10170546	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10170667	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10176632	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10194648	0.82[ASN][1000 genomes]
rs10208150	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10497502	0.85[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs10497503	0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10497508	0.91[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs10803909	0.81[ASN][1000 genomes]
rs10930792	0.83[ASN][1000 genomes]
rs11688684	0.85[JPT][hapmap]
rs11893448	0.88[ASN][1000 genomes]
rs12104588	0.93[ASN][1000 genomes]
rs12469386	0.81[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs12474344	0.80[JPT][hapmap]
rs12611938	0.85[ASN][1000 genomes]
rs12614820	0.85[ASN][1000 genomes]
rs12615367	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs12616093	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs12616443	0.82[ASN][1000 genomes]
rs12618139	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs12620035	0.88[ASN][1000 genomes]
rs12693120	0.88[ASN][1000 genomes]
rs12990594	0.85[JPT][hapmap]
rs12990729	0.84[ASN][1000 genomes]
rs12996447	0.86[ASN][1000 genomes]
rs13000048	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs13004955	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs13022567	0.80[JPT][hapmap]
rs13027959	0.86[ASN][1000 genomes]
rs1348848	0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1348849	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1348850	0.81[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap]
rs1374437	0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1453370	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1453371	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1453373	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16865203	0.91[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs16865291	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs16865328	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs16865331	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1901824	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1901825	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1901826	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1901829	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1979058	0.83[ASN][1000 genomes]
rs2034678	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2060929	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2084233	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2121430	0.81[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2166558	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2197611	0.82[ASN][1000 genomes]
rs2364845	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364854	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs3213945	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3769995	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs3769996	0.90[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap]
rs3769997	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs3770002	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs3813259	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3902850	0.85[ASN][1000 genomes]
rs4243388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4341974	0.81[ASN][1000 genomes]
rs4893822	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4893823	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4893824	0.86[ASN][1000 genomes]
rs4893825	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4893931	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4893932	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4893934	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4893935	1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4893936	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4893938	0.93[ASN][1000 genomes]
rs4893941	0.88[ASN][1000 genomes]
rs4893944	0.84[ASN][1000 genomes]
rs4893945	0.87[ASN][1000 genomes]
rs4893946	0.82[ASN][1000 genomes]
rs4893950	0.81[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4893951	0.80[ASN][1000 genomes]
rs4893957	0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4893959	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4893961	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4893962	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs56942680	0.83[ASN][1000 genomes]
rs58483300	0.83[ASN][1000 genomes]
rs59208652	0.89[ASN][1000 genomes]
rs59578457	0.85[ASN][1000 genomes]
rs59751564	0.88[ASN][1000 genomes]
rs60733259	0.83[ASN][1000 genomes]
rs6433670	0.82[ASN][1000 genomes]
rs6433673	0.80[ASN][1000 genomes]
rs6710575	0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap]
rs6742951	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7565022	0.82[ASN][1000 genomes]
rs7573763	0.93[ASN][1000 genomes]
rs7586051	0.88[ASN][1000 genomes]
rs7587604	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7591807	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7604673	0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap]
rs7606235	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs7607450	0.82[ASN][1000 genomes]
rs8941	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs952746	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9679607	0.85[ASN][1000 genomes]
rs9789582	0.83[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	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv962042	chr2:178220899-178232397	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4893821	TTN	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178203400-178244400	Weak transcription	HSMM	muscle
2	chr2:178218000-178256200	Weak transcription	HepG2	liver
3	chr2:178219200-178233600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:178221600-178240600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:178225600-178231800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:178225600-178233000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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