Variant report

Variant	rs494493
Chromosome Location	chr15:73619997-73619998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73618101..73621318-chr15:73623382..73626279,3	K562	blood:
2	chr15:73619265..73621780-chr15:73623382..73625106,2	K562	blood:
3	chr15:73617280..73620267-chr15:73620708..73622245,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11072404	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1320241	0.84[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1479336	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1620369	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1621216	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1631796	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1678246	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1678247	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1871387	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1960423	0.85[ASN][1000 genomes]
rs1979409	0.84[LWK][hapmap];0.84[YRI][hapmap]
rs2619257	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2619258	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2623989	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2623991	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2623992	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2623995	0.84[ASN][1000 genomes]
rs2623999	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2660822	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2660825	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2660826	0.84[ASW][hapmap];0.88[LWK][hapmap];0.84[MKK][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs2660828	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2680333	0.83[AFR][1000 genomes]
rs2680336	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2680337	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2680342	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2680345	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2680346	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4564531	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4570800	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs471192	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4776627	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4776629	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs481579	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs484515	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs484544	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs489873	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs497539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs499098	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs513744	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs525587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs529004	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs542259	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs549377	0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs553238	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs561929	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67999476	0.86[AMR][1000 genomes]
rs68053508	0.86[EUR][1000 genomes]
rs7163504	1.00[CEU][hapmap]
rs8037761	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8039308	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9806271	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.88[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	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv457202	chr15:73612377-73680301	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv569949	chr15:73612377-73680301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv524049	chr15:73612833-73680301	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73598200-73622800	Weak transcription	Right Atrium	heart
2	chr15:73598800-73620000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr15:73611000-73620200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr15:73611400-73622200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:73612000-73620200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr15:73612200-73623200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:73612400-73620200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:73612400-73623000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:73615000-73622800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:73617200-73625800	Weak transcription	Fetal Intestine Small	intestine
11	chr15:73617400-73623200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:73617600-73620200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:73617800-73620800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:73617800-73634600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:73618200-73620000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr15:73618200-73620400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:73618200-73622600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:73618400-73620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:73618600-73620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:73618600-73620400	Weak transcription	Fetal Brain Female	brain
21	chr15:73618600-73624600	Weak transcription	Spleen	Spleen
22	chr15:73618800-73620000	Weak transcription	Brain Germinal Matrix	brain
23	chr15:73618800-73620400	Weak transcription	Right Ventricle	heart
24	chr15:73618800-73621800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:73618800-73621800	Weak transcription	Fetal Heart	heart
26	chr15:73618800-73622600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:73618800-73622600	Weak transcription	Left Ventricle	heart

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