Variant report

Variant	rs229673
Chromosome Location	chr14:65281944-65281945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65277012..65279829-chr14:65281004..65282816,2	MCF-7	breast:
2	chr14:65280294..65282900-chr14:65322430..65324178,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs114813	0.84[MEX][hapmap]
rs1271040	0.82[ASN][1000 genomes]
rs151165	0.80[YRI][hapmap];0.84[ASN][1000 genomes]
rs1695751	0.84[MEX][hapmap]
rs1741464	0.80[CEU][hapmap];0.80[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1741466	0.81[CHD][hapmap]
rs17767662	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs192036	0.84[ASN][1000 genomes]
rs2269295	0.84[CHD][hapmap];0.91[GIH][hapmap]
rs2269296	0.90[CHD][hapmap];0.93[GIH][hapmap]
rs229580	0.80[YRI][hapmap]
rs229581	0.84[ASN][1000 genomes]
rs229587	0.88[ASW][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.84[ASN][1000 genomes]
rs229588	0.92[ASW][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap];0.80[YRI][hapmap];0.82[ASN][1000 genomes]
rs229589	0.97[CHD][hapmap];0.80[GIH][hapmap];0.82[ASN][1000 genomes]
rs229618	0.84[MEX][hapmap]
rs229619	0.84[MEX][hapmap]
rs229670	0.88[MEX][hapmap]
rs229672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229675	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368194	0.87[CHD][hapmap];0.84[JPT][hapmap]
rs3819928	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs433143	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4902317	0.84[ASN][1000 genomes]
rs8017385	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[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	nsv521286	chr14:65277890-65281944	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs229673	CHURC1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
2	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:65268400-65290200	Weak transcription	Brain Germinal Matrix	brain
4	chr14:65271400-65289800	Weak transcription	Brain Anterior Caudate	brain
5	chr14:65273800-65287200	Weak transcription	K562	blood
6	chr14:65274600-65284600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:65275800-65290000	Weak transcription	Psoas Muscle	Psoas
8	chr14:65279400-65282200	Weak transcription	Right Atrium	heart
9	chr14:65279400-65284200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:65279400-65284400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:65279400-65284400	Weak transcription	Aorta	Aorta
12	chr14:65279400-65284600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:65279400-65287000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:65279600-65282400	Weak transcription	Fetal Heart	heart
15	chr14:65280200-65282800	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:65280800-65283400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:65281600-65284000	Enhancers	Left Ventricle	heart
18	chr14:65281800-65282000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:65281800-65283600	Enhancers	Right Ventricle	heart
20	chr14:65281800-65288400	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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