Variant report

Variant	rs17651646
Chromosome Location	chr12:45048195-45048196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10506251	1.00[CEU][hapmap]
rs10506252	1.00[CEU][hapmap]
rs11182568	1.00[CEU][hapmap]
rs11182575	1.00[CEU][hapmap]
rs11182593	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11182653	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs11612950	1.00[CEU][hapmap]
rs11615599	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1452886	1.00[CEU][hapmap]
rs17094881	1.00[CEU][hapmap]
rs17094886	1.00[CEU][hapmap]
rs17094892	1.00[CEU][hapmap]
rs17571971	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17572590	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17574492	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17574839	0.87[CEU][hapmap]
rs17575480	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17650849	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs17652715	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17653092	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17653542	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2408044	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4768068	1.00[CEU][hapmap]
rs4768561	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs4768566	1.00[CEU][hapmap]
rs4768570	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6582510	1.00[CEU][hapmap]
rs6582511	1.00[CEU][hapmap]
rs6582512	1.00[CEU][hapmap]
rs7296595	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7305652	1.00[CEU][hapmap]
rs73278114	0.90[EUR][1000 genomes]
rs7955981	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7957292	1.00[CEU][hapmap]
rs7961698	1.00[CEU][hapmap]
rs7967221	1.00[CEU][hapmap]
rs7974472	1.00[CEU][hapmap]
rs7976217	1.00[CEU][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2762978	chr12:45042460-45051490	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45015000-45048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45023400-45055600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:45031600-45059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:45043600-45048400	Weak transcription	Fetal Stomach	stomach
5	chr12:45043800-45048200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:45043800-45048200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:45043800-45048400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:45043800-45054000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:45044400-45062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:45045000-45048400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:45046600-45050600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:45047200-45050800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:45047400-45048600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:45047400-45050600	Enhancers	Fetal Brain Male	brain
15	chr12:45047600-45048600	Enhancers	Fetal Brain Female	brain
16	chr12:45047600-45050400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:45047800-45049200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:45047800-45049400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:45047800-45049400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:45047800-45049400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:45047800-45049400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:45047800-45050000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:45047800-45050200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:45047800-45050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:45048000-45050000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr12:45048000-45050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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