Variant report

Variant	rs2273475
Chromosome Location	chr14:65268605-65268606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65268216..65269184-chr14:65358330..65359038,4	K562	blood:
2	chr14:65248996..65250592-chr14:65267178..65268809,2	MCF-7	breast:
3	chr14:65264806..65267601-chr14:65268101..65270976,2	K562	blood:
4	chr14:65268004..65268870-chr14:65450202..65451035,3	K562	blood:
5	chr14:65267486..65269217-chr14:65357718..65359262,14	MCF-7	breast:
6	chr14:65268349..65269036-chr14:65289885..65290600,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17180385	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17180532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767673	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957416	0.85[CEU][hapmap]
rs2285003	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs229576	1.00[JPT][hapmap]
rs229669	0.88[CEU][hapmap]
rs230715	0.87[CEU][hapmap]
rs230718	0.88[CEU][hapmap]
rs230723	0.85[CEU][hapmap]
rs6573571	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7144515	0.85[CEU][hapmap]
rs747860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8004506	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757572	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv2759994	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2273475	AFAP1-AS1	trans	lymphoblastoid	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65232200-65274200	Weak transcription	Gastric	stomach
2	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
4	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
6	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
7	chr14:65255600-65268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:65257200-65271600	Strong transcription	Right Ventricle	heart
9	chr14:65258000-65274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:65258200-65271800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr14:65258600-65272600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:65262000-65270400	Weak transcription	Brain Anterior Caudate	brain
13	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:65262200-65271800	Weak transcription	Brain Angular Gyrus	brain
15	chr14:65262800-65270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:65263400-65271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:65265000-65270000	Strong transcription	K562	blood
18	chr14:65265600-65269200	Strong transcription	Fetal Brain Female	brain
19	chr14:65266000-65272400	Weak transcription	Aorta	Aorta
20	chr14:65267000-65271800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:65267200-65268800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:65267200-65269000	Weak transcription	HSMMtube	muscle
23	chr14:65267200-65271600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:65267200-65272000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:65267200-65272200	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:65267200-65272600	Weak transcription	Pancreas	Pancrea
27	chr14:65267400-65271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:65267400-65271800	Weak transcription	A549	lung
29	chr14:65267400-65271800	Weak transcription	NHEK	skin
30	chr14:65267400-65272400	Weak transcription	Hela-S3	cervix
31	chr14:65267400-65273200	Weak transcription	Fetal Heart	heart
32	chr14:65267800-65272000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:65268000-65268800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:65268400-65290200	Weak transcription	Brain Germinal Matrix	brain
35	chr14:65268600-65272600	Weak transcription	Left Ventricle	heart

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