Variant report

Variant	rs2682873
Chromosome Location	chr2:187584535-187584536
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187558747..187561002-chr2:187582071..187584698,2	MCF-7	breast:
2	chr2:187584327..187587895-chr2:187590240..187593578,4	K562	blood:

Variant related genes	Relation type
ENSG00000227227	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10165992	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1072901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10755000	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10931253	0.86[EUR][1000 genomes]
rs12471718	0.97[ASN][1000 genomes]
rs12475476	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs12618322	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12620821	0.88[CHB][hapmap]
rs13020260	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs13028008	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1448427	0.88[CHB][hapmap]
rs17406229	0.86[EUR][1000 genomes]
rs17406346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2012128	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2012401	0.90[ASN][1000 genomes]
rs2121975	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[EUR][1000 genomes]
rs2121976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2165655	0.81[CHB][hapmap]
rs2276562	0.96[ASN][1000 genomes]
rs2290083	0.95[ASN][1000 genomes]
rs2460766	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2595383	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2595386	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2595395	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2682863	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2682868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3114941	0.89[ASN][1000 genomes]
rs3213964	0.88[CHB][hapmap]
rs34056045	0.87[EUR][1000 genomes]
rs35540241	0.84[ASN][1000 genomes]
rs3768781	0.84[CHB][hapmap]
rs3768785	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs3816375	0.88[CHB][hapmap]
rs3911238	0.84[CHB][hapmap]
rs41265951	0.93[ASN][1000 genomes]
rs4666713	1.00[JPT][hapmap]
rs4667108	0.88[CHB][hapmap]
rs4667112	0.96[ASN][1000 genomes]
rs4667113	0.96[ASN][1000 genomes]
rs55781198	0.84[ASN][1000 genomes]
rs55961288	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62173041	0.99[ASN][1000 genomes]
rs62196185	0.98[ASN][1000 genomes]
rs6705757	0.96[CEU][hapmap];0.88[CHB][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs718259	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7585442	0.88[CHB][hapmap]
rs7585471	0.88[CHB][hapmap]
rs930657	0.92[CEU][hapmap];0.88[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9789704	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9967663	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2682873	FAM171B	cis	brain	BrainEAC

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187581600-187584600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:187581600-187584600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:187581800-187584600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:187582000-187584600	Enhancers	Brain Anterior Caudate	brain
5	chr2:187582200-187584600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:187582200-187584600	Enhancers	Fetal Brain Male	brain
7	chr2:187583600-187584600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:187583800-187584600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:187583800-187588600	Weak transcription	Brain Substantia Nigra	brain
10	chr2:187583800-187588800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:187584000-187584600	Flanking Active TSS	Fetal Brain Female	brain
12	chr2:187584000-187584600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:187584200-187584600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:187584200-187584600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:187584200-187584600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:187584200-187584600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:187584200-187584600	Enhancers	Fetal Lung	lung
18	chr2:187584400-187584600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:187584400-187584600	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:187584400-187585600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:187584400-187585800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:187584400-187587800	Weak transcription	Brain Germinal Matrix	brain
23	chr2:187584400-187589000	Weak transcription	Brain Angular Gyrus	brain
24	chr2:187584400-187590400	Weak transcription	Brain Hippocampus Middle	brain

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