Variant report

Variant	rs11674317
Chromosome Location	chr2:48535911-48535912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48534472..48536847-chr2:48541135..48543354,2	MCF-7	breast:
2	chr2:48535868..48537728-chr2:48543055..48544951,2	K562	blood:
3	chr2:48532704..48536258-chr2:48538581..48541257,5	K562	blood:

Variant related genes	Relation type
ENSG00000170802	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10195717	0.81[CEU][hapmap]
rs11676925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11677205	0.80[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11678934	1.00[AFR][1000 genomes]
rs11679518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680657	0.84[EUR][1000 genomes]
rs11680968	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11682838	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11687276	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11687401	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11687461	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11687851	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11691302	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11691407	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11694094	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11694955	1.00[AFR][1000 genomes]
rs11695923	0.84[EUR][1000 genomes]
rs13398456	0.83[CEU][hapmap]
rs17325209	0.85[EUR][1000 genomes]
rs17397094	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17397449	0.80[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2014675	0.84[EUR][1000 genomes]
rs28505584	0.82[EUR][1000 genomes]
rs4364065	1.00[AFR][1000 genomes]
rs6747738	0.84[EUR][1000 genomes]
rs7573281	0.82[EUR][1000 genomes]
rs7584796	0.82[EUR][1000 genomes]
rs952468	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]

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	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
4	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 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	chr2:48528000-48539200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:48530200-48540200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:48533000-48539800	Weak transcription	Primary B cells from cord blood	blood
5	chr2:48534400-48538800	Weak transcription	NHEK	skin
6	chr2:48534400-48540200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:48534600-48539200	Weak transcription	Hela-S3	cervix
8	chr2:48534600-48540200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:48534600-48540200	Weak transcription	NHDF-Ad	bronchial
10	chr2:48534800-48539600	Weak transcription	Placenta	Placenta
11	chr2:48534800-48539600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:48534800-48539600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:48535000-48538400	Weak transcription	HepG2	liver
14	chr2:48535600-48540400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:48535800-48539400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:48535800-48539600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:48535800-48539600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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