Variant report

Variant	rs10180159
Chromosome Location	chr2:48518549-48518550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48518431..48520376-chr2:48536529..48538446,2	K562	blood:
2	chr2:48514433..48519005-chr2:48519179..48522844,4	K562	blood:
3	chr2:48513964..48516198-chr2:48516767..48519055,2	MCF-7	breast:
4	chr2:48517525..48519074-chr2:48557962..48560768,2	K562	blood:
5	chr2:48515255..48518583-chr2:48539283..48541492,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10164456	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10165262	1.00[AMR][1000 genomes]
rs10167097	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10168301	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10169977	1.00[AMR][1000 genomes]
rs10170181	1.00[AMR][1000 genomes]
rs10177012	1.00[AMR][1000 genomes]
rs10178938	1.00[AMR][1000 genomes]
rs10180254	1.00[AMR][1000 genomes]
rs10183526	1.00[AMR][1000 genomes]
rs10184942	1.00[AMR][1000 genomes]
rs10186155	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10187019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10187502	1.00[AMR][1000 genomes]
rs10192404	1.00[AMR][1000 genomes]
rs10197056	1.00[AMR][1000 genomes]
rs10198245	1.00[AMR][1000 genomes]
rs10199098	1.00[AMR][1000 genomes]
rs10199615	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10199764	1.00[AMR][1000 genomes]
rs10200180	1.00[AMR][1000 genomes]
rs10204343	1.00[AMR][1000 genomes]
rs10206551	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10208042	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10209432	1.00[AMR][1000 genomes]
rs12328834	1.00[AMR][1000 genomes]
rs12329068	1.00[AMR][1000 genomes]
rs13387285	1.00[AMR][1000 genomes]
rs13387357	1.00[AMR][1000 genomes]
rs13390201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391880	1.00[AMR][1000 genomes]
rs13396735	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397110	1.00[AMR][1000 genomes]
rs13397541	1.00[AMR][1000 genomes]
rs13399261	1.00[AMR][1000 genomes]
rs13402261	1.00[AMR][1000 genomes]
rs13408747	1.00[AMR][1000 genomes]
rs13410143	1.00[AMR][1000 genomes]
rs13418349	1.00[AMR][1000 genomes]
rs13419687	1.00[AMR][1000 genomes]
rs13422341	1.00[AMR][1000 genomes]
rs13424478	1.00[AMR][1000 genomes]
rs13424841	1.00[AMR][1000 genomes]
rs13430424	1.00[AMR][1000 genomes]
rs13432235	1.00[AMR][1000 genomes]
rs28623311	1.00[AMR][1000 genomes]
rs28775335	1.00[AMR][1000 genomes]
rs28784960	1.00[AMR][1000 genomes]
rs28893847	1.00[AMR][1000 genomes]
rs7340280	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7355330	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9653522	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9653523	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9653524	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:48514000-48519400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:48515800-48519200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:48516200-48519400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:48516800-48522200	Weak transcription	Primary B cells from peripheral blood	blood

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