Variant report

Variant	rs17745593
Chromosome Location	chr2:134151389-134151390
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134147354..134149666-chr2:134150601..134153236,2	K562	blood:

Variant related genes	Relation type
ENSG00000222068	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10165601	0.82[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.96[LWK][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10171473	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10175744	0.88[CHB][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.97[TSI][hapmap];0.90[ASN][1000 genomes]
rs10180047	0.88[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[TSI][hapmap];0.90[ASN][1000 genomes]
rs10182656	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10184630	0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs10191826	0.85[ASN][1000 genomes]
rs10193087	0.86[CHB][hapmap];0.90[ASN][1000 genomes]
rs10193730	0.90[ASN][1000 genomes]
rs10196395	0.90[ASN][1000 genomes]
rs10204436	0.90[ASN][1000 genomes]
rs10204527	0.90[ASN][1000 genomes]
rs10206474	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10469580	0.85[ASN][1000 genomes]
rs10928451	0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs11890293	0.88[ASN][1000 genomes]
rs11898252	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12327930	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12328723	0.88[ASN][1000 genomes]
rs12328976	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs13392963	0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs13396831	0.88[CHB][hapmap];0.88[CHD][hapmap];0.88[ASN][1000 genomes]
rs13396930	0.84[ASN][1000 genomes]
rs13400561	0.84[ASN][1000 genomes]
rs13400743	0.84[ASN][1000 genomes]
rs13406057	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13406354	0.88[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[ASN][1000 genomes]
rs13407205	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13407503	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13408835	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411233	0.82[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13412956	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs13421761	0.88[ASN][1000 genomes]
rs13426157	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13426681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13432602	0.88[CHD][hapmap];0.92[JPT][hapmap];0.87[TSI][hapmap];0.85[ASN][1000 genomes]
rs1346776	0.90[TSI][hapmap];0.82[ASN][1000 genomes]
rs1369509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1369510	0.82[ASW][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1430165	0.81[TSI][hapmap]
rs1430166	0.87[TSI][hapmap];0.85[ASN][1000 genomes]
rs1430167	0.91[ASN][1000 genomes]
rs1430168	0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1435554	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1435556	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1435563	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1435564	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1435565	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1435566	0.88[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.94[ASN][1000 genomes]
rs1561018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16824299	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16824301	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16824303	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16824511	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs16824573	0.94[CEU][hapmap];0.89[CHB][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17745851	0.88[ASN][1000 genomes]
rs17802295	0.88[CHB][hapmap];0.87[CHD][hapmap];0.97[TSI][hapmap];0.90[ASN][1000 genomes]
rs1898008	0.85[CHB][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2115864	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs2164326	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2289075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304404	0.88[ASN][1000 genomes]
rs28445548	0.85[ASN][1000 genomes]
rs35892150	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4588241	0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55788182	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56410092	0.94[ASN][1000 genomes]
rs58029642	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58489491	0.88[ASN][1000 genomes]
rs62177662	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62177669	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177672	0.88[ASN][1000 genomes]
rs62180011	0.84[ASN][1000 genomes]
rs62180012	0.84[ASN][1000 genomes]
rs62180016	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62180017	0.88[ASN][1000 genomes]
rs7573164	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9287426	0.88[CHB][hapmap];0.88[CHD][hapmap];0.86[LWK][hapmap];0.94[TSI][hapmap];0.90[ASN][1000 genomes]
rs990476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014718	chr2:134067133-134151633	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv522324	chr2:134085665-134174032	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17745593	C2orf27B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134147400-134151600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:134149000-134155400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:134150800-134152400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:134151000-134152000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:134151200-134151400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:134151200-134151600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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