Variant report

Variant	rs17654244
Chromosome Location	chr12:45169086-45169087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45168329..45169564-chr12:45323968..45325348,4	K562	blood:
2	chr12:45168304..45169119-chr12:45267170..45268311,3	MCF-7	breast:
3	chr12:45168298..45169262-chr12:45324213..45325460,5	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10506251	1.00[CHB][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs10506252	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182653	0.82[MEX][hapmap]
rs11612950	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11613236	1.00[ASN][1000 genomes]
rs11615599	1.00[ASN][1000 genomes]
rs17094881	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17094886	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17094892	1.00[CHB][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs17571971	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17572590	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17572765	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17574492	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17574839	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17575480	1.00[ASN][1000 genomes]
rs17649873	1.00[ASN][1000 genomes]
rs17650849	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17652715	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17653092	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17653542	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17654558	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17654689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408044	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4768068	1.00[ASN][1000 genomes]
rs4768070	1.00[ASN][1000 genomes]
rs4768561	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4768566	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4768570	1.00[CHB][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs4768574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582512	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7135950	1.00[ASN][1000 genomes]
rs7296595	1.00[ASN][1000 genomes]
rs7305652	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs73282400	1.00[ASN][1000 genomes]
rs73284070	1.00[ASN][1000 genomes]
rs7955981	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7957292	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7966845	1.00[ASN][1000 genomes]
rs7967221	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7974472	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7976217	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1049080	chr12:45097564-45195295	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45135400-45175000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45145000-45172200	Weak transcription	Fetal Brain Female	brain
3	chr12:45145200-45169600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:45146800-45172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:45147400-45172200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:45151800-45209200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:45153600-45185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:45156000-45173800	Weak transcription	Brain Germinal Matrix	brain
9	chr12:45157000-45205600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:45159200-45169600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:45164600-45169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:45165800-45175000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:45165800-45175000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:45165800-45177800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:45166000-45177600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:45166200-45170400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:45166200-45177800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:45167800-45172000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:45168200-45169400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:45168200-45189000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:45168600-45171400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:45168600-45177800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:45168800-45169200	Enhancers	Fetal Brain Male	brain
24	chr12:45169000-45171200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:45169000-45171400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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