Variant report

Variant	rs73140244
Chromosome Location	chr1:246998188-246998189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:246998082-246998253	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246996938..246999359-chr1:247044207..247046740,2	K562	blood:

Variant related genes	Relation type
ENSG00000252011	TF binding region
KIF28P	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11800375	1.00[EUR][1000 genomes]
rs11805816	1.00[EUR][1000 genomes]
rs11806722	1.00[EUR][1000 genomes]
rs11807103	1.00[EUR][1000 genomes]
rs11807233	1.00[EUR][1000 genomes]
rs12061420	1.00[EUR][1000 genomes]
rs12088097	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091757	1.00[EUR][1000 genomes]
rs12092189	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12096743	1.00[EUR][1000 genomes]
rs12097308	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375472	1.00[EUR][1000 genomes]
rs1472276	1.00[EUR][1000 genomes]
rs2067915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3007328	1.00[EUR][1000 genomes]
rs59476689	1.00[EUR][1000 genomes]
rs6659764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6686324	1.00[EUR][1000 genomes]
rs6694181	1.00[EUR][1000 genomes]
rs6696599	1.00[EUR][1000 genomes]
rs73142235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73142251	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73142256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144222	1.00[EUR][1000 genomes]
rs73146692	1.00[EUR][1000 genomes]
rs73148612	1.00[EUR][1000 genomes]
rs7516596	1.00[EUR][1000 genomes]
rs7534805	1.00[EUR][1000 genomes]
rs7535104	1.00[EUR][1000 genomes]
rs7537256	1.00[EUR][1000 genomes]
rs7550911	1.00[EUR][1000 genomes]
rs9729188	1.00[EUR][1000 genomes]
rs9887864	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246989200-247011200	Weak transcription	Fetal Kidney	kidney
2	chr1:246993200-247004200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:246994800-247003200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:246995200-247001400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:246995400-247004200	Weak transcription	HUVEC	blood vessel
6	chr1:246996800-246999000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:246997400-246999600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:246997400-247002200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:246997800-246998200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:246997800-246998200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:246997800-246999600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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