Variant report

Variant	rs6573581
Chromosome Location	chr14:65331955-65331956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65331676..65335565-chr14:65336608..65339338,3	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10144554	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10873177	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158564	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11628910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12435626	0.85[TSI][hapmap]
rs1467569	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1467570	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1467571	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1467573	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1570296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102320	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs1951490	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1951491	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1951492	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1951495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957427	0.85[EUR][1000 genomes]
rs1957428	0.82[ASN][1000 genomes]
rs1957429	0.82[ASN][1000 genomes]
rs1957431	0.85[ASN][1000 genomes]
rs1957432	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1957434	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1957435	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1957436	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1998333	0.85[ASN][1000 genomes]
rs2269292	0.85[TSI][hapmap]
rs2269293	0.81[TSI][hapmap]
rs230723	0.95[TSI][hapmap]
rs28370916	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2884308	0.89[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs368818	0.85[CHB][hapmap]
rs3813422	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3813423	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3819918	0.85[TSI][hapmap]
rs4899150	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902325	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902327	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6573580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573583	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7141985	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7143541	0.83[CHB][hapmap]
rs7144515	0.95[TSI][hapmap]
rs7144718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149922	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs763346	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008745	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8009510	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8009996	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8013772	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9783609	0.87[EUR][1000 genomes];0.85[ASN][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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6573581	CHURC1	cis	lymphoblastoid	seeQTL
rs6573581	RAB15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65319400-65332600	Weak transcription	Right Atrium	heart
2	chr14:65325600-65332200	Weak transcription	Right Ventricle	heart
3	chr14:65325800-65332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:65327200-65332000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:65327200-65332200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:65328800-65332000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:65328800-65332200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:65328800-65332200	Weak transcription	Left Ventricle	heart
9	chr14:65328800-65332400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:65328800-65332400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:65328800-65334000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:65329000-65332000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:65329000-65333000	Weak transcription	Fetal Heart	heart
14	chr14:65329200-65333000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:65329800-65332200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr14:65330600-65332000	Weak transcription	K562	blood
17	chr14:65331200-65332200	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:65331600-65335800	Enhancers	Psoas Muscle	Psoas
19	chr14:65331800-65332800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:65331800-65333000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:65331800-65333200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:65331800-65342400	Enhancers	Skeletal Muscle Male	skeletal muscle

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