Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:124316645-124316925	K562	blood:	n/a	n/a
2	ATF1	chr12:124316625-124316924	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124316592..124319347-chr12:124325375..124326955,2	K562	blood:

Variant related genes	Relation type
DNAH10	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10773036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs10846557	1.00[CHB][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs10846558	0.88[ASN][1000 genomes]
rs11057353	1.00[CHB][hapmap]
rs11057357	1.00[CHB][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs11057359	0.91[ASN][1000 genomes]
rs12099921	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12579670	0.82[JPT][hapmap]
rs12580590	0.82[JPT][hapmap]
rs12581508	0.82[JPT][hapmap]
rs1568028	0.91[ASN][1000 genomes]
rs4930730	0.87[ASW][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes]
rs4930731	0.86[GIH][hapmap]
rs4930732	0.86[GIH][hapmap]
rs61143657	0.82[ASN][1000 genomes]
rs7315108	0.82[JPT][hapmap]
rs7962448	0.82[ASN][1000 genomes]
rs7964186	1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7969937	0.82[JPT][hapmap]
rs7977449	0.82[JPT][hapmap]
rs7978454	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888323	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]

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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3358359	chr12:124314599-124318997	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7965847	TCTN2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124312600-124317400	Weak transcription	Fetal Brain Female	brain
2	chr12:124314600-124319400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:124315000-124318000	Weak transcription	Fetal Kidney	kidney

Quick Search: