Variant report

Variant	rs7317431
Chromosome Location	chr13:48706932-48706933
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	chr13:48705406..48707742-chr13:48718152..48719712,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1327655	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571256	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17350996	0.83[EUR][1000 genomes]
rs17425881	0.86[TSI][hapmap]
rs2025865	0.83[EUR][1000 genomes]
rs2104480	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2148246	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2148938	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2296573	0.86[TSI][hapmap]
rs2406709	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs3809330	1.00[CEU][hapmap];0.80[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4369555	0.81[JPT][hapmap]
rs4941623	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4941627	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4942742	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4942743	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4942747	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.85[LWK][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4942748	0.85[AMR][1000 genomes]
rs4942749	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942750	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942751	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942752	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59829900	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6561434	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7318704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322766	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7323969	0.84[EUR][1000 genomes]
rs7324484	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7331551	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7332147	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7332326	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7333247	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7338844	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7338999	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7339370	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7981114	0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs7986400	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7990060	1.00[CEU][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9285165	0.84[EUR][1000 genomes]
rs9316346	0.90[TSI][hapmap]
rs9316348	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.85[LWK][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9316349	0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs9316352	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9316353	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9316354	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9316355	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9316356	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9316357	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9316358	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9316359	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9526442	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9526443	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs9526446	0.86[ASN][1000 genomes]
rs9534888	0.80[JPT][hapmap]
rs9534937	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs9534939	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs9534944	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs9534947	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs9534965	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9562800	0.80[EUR][1000 genomes]
rs9562806	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562808	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9567993	0.82[EUR][1000 genomes]
rs9567994	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes]
rs9567999	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568000	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9568001	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568002	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568003	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568004	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568005	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9568006	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568008	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568009	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568010	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568014	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9591135	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9591138	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9591139	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9591140	0.84[EUR][1000 genomes]
rs9595835	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[JPT][hapmap];0.85[LWK][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9595836	0.80[EUR][1000 genomes]
rs9595843	0.84[EUR][1000 genomes]
rs9595851	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7317431	SRD5A1	trans	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48701800-48725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:48702200-48713800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:48705800-48707000	Enhancers	Primary hematopoietic stem cells	blood
4	chr13:48706000-48710600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:48706800-48707000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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