Variant report

Variant	rs17444653
Chromosome Location	chr12:40798944-40798945
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	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000258167	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11564128	1.00[JPT][hapmap]
rs11564204	1.00[JPT][hapmap]
rs17443366	1.00[JPT][hapmap]
rs17443380	1.00[JPT][hapmap]
rs17443387	1.00[JPT][hapmap]
rs17443504	1.00[JPT][hapmap]
rs17443882	1.00[JPT][hapmap]
rs17443916	1.00[JPT][hapmap]
rs17443951	1.00[JPT][hapmap]
rs17444021	1.00[JPT][hapmap]
rs17444033	1.00[JPT][hapmap]
rs17444299	1.00[JPT][hapmap]
rs17444695	1.00[JPT][hapmap]
rs17444805	1.00[JPT][hapmap]
rs17465737	1.00[JPT][hapmap]
rs17465751	1.00[JPT][hapmap]
rs17465807	1.00[JPT][hapmap]
rs17465877	1.00[JPT][hapmap]
rs17466002	1.00[JPT][hapmap]
rs17466143	1.00[JPT][hapmap]
rs17466206	1.00[JPT][hapmap]
rs17466213	1.00[JPT][hapmap]
rs17466241	1.00[JPT][hapmap]
rs17466458	1.00[JPT][hapmap]
rs17466514	1.00[JPT][hapmap]
rs17466535	1.00[JPT][hapmap]
rs17466584	1.00[JPT][hapmap]
rs17466612	1.00[JPT][hapmap]
rs17466969	1.00[JPT][hapmap]
rs17467081	1.00[JPT][hapmap]
rs17484176	1.00[JPT][hapmap]
rs17490599	1.00[JPT][hapmap]
rs17490769	1.00[JPT][hapmap]
rs17490796	1.00[JPT][hapmap]
rs17490810	1.00[JPT][hapmap]
rs17491047	1.00[JPT][hapmap]
rs17491061	1.00[JPT][hapmap]
rs17491068	1.00[JPT][hapmap]
rs17491180	1.00[JPT][hapmap]
rs17491340	1.00[JPT][hapmap]
rs17491445	1.00[JPT][hapmap]
rs17491515	1.00[JPT][hapmap]
rs17491529	1.00[JPT][hapmap]
rs17491638	1.00[JPT][hapmap]
rs17491807	1.00[JPT][hapmap]
rs17491835	1.00[JPT][hapmap]
rs17491863	1.00[JPT][hapmap]
rs17492110	1.00[JPT][hapmap]
rs17492145	1.00[JPT][hapmap]
rs17492194	1.00[JPT][hapmap]
rs17519531	1.00[JPT][hapmap]
rs17519566	1.00[JPT][hapmap]
rs17519580	1.00[JPT][hapmap]
rs17519615	1.00[JPT][hapmap]
rs17519671	1.00[JPT][hapmap]
rs17519811	1.00[JPT][hapmap]
rs17519825	1.00[JPT][hapmap]
rs17519832	1.00[JPT][hapmap]
rs17519985	1.00[JPT][hapmap]
rs17520020	1.00[JPT][hapmap]
rs17520278	1.00[JPT][hapmap]
rs17520292	1.00[JPT][hapmap]
rs17520515	1.00[JPT][hapmap]
rs17520620	1.00[JPT][hapmap]
rs17520956	1.00[JPT][hapmap]
rs17521026	1.00[JPT][hapmap]
rs17521296	1.00[JPT][hapmap]
rs17521316	1.00[JPT][hapmap]
rs28365211	1.00[JPT][hapmap]
rs28365221	1.00[JPT][hapmap]
rs28365226	1.00[JPT][hapmap]
rs28365233	1.00[JPT][hapmap]
rs28365242	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1047639	chr12:40774370-40804386	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv558599	chr12:40790698-40814452	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv983242	chr12:40797402-40802980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40787200-40799200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:40793800-40799400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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