Variant report

Variant	rs1714522
Chromosome Location	chr3:158284434-158284435
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	chr3:158278970..158280911-chr3:158284194..158285901,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1595027	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1614241	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1656375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828940	0.90[JPT][hapmap]
rs16828961	0.90[JPT][hapmap]
rs16828966	0.90[JPT][hapmap]
rs16828986	0.90[JPT][hapmap]
rs16828988	0.90[JPT][hapmap]
rs16828994	0.90[JPT][hapmap]
rs16828996	0.90[JPT][hapmap]
rs16828998	0.90[JPT][hapmap]
rs16829044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs16829064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16829102	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16829105	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1714520	1.00[JPT][hapmap]
rs17630607	1.00[CHB][hapmap]
rs17697458	1.00[CHB][hapmap]
rs17699103	1.00[CHB][hapmap]
rs17699324	1.00[CHB][hapmap]
rs1978780	0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2196357	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2304408	1.00[CHB][hapmap]
rs3867391	1.00[CHB][hapmap]
rs55838364	0.91[ASN][1000 genomes]
rs58157740	1.00[ASN][1000 genomes]
rs58251618	0.80[ASN][1000 genomes]
rs60589185	0.80[ASN][1000 genomes]
rs62287862	0.80[ASN][1000 genomes]
rs62287863	0.80[ASN][1000 genomes]
rs62287866	0.80[ASN][1000 genomes]
rs62287867	0.80[ASN][1000 genomes]
rs62287869	0.80[ASN][1000 genomes]
rs62287870	0.80[ASN][1000 genomes]
rs62287871	0.80[ASN][1000 genomes]
rs62287872	0.80[ASN][1000 genomes]
rs62287904	0.98[ASN][1000 genomes]
rs62287906	1.00[ASN][1000 genomes]
rs62287931	1.00[ASN][1000 genomes]
rs62289512	0.80[ASN][1000 genomes]
rs62289513	0.80[ASN][1000 genomes]
rs62289515	0.80[ASN][1000 genomes]
rs62289516	0.80[ASN][1000 genomes]
rs6441208	1.00[CHB][hapmap]
rs6776901	1.00[CHB][hapmap]
rs6777231	1.00[CHB][hapmap]
rs6802223	0.80[ASN][1000 genomes]
rs6804230	1.00[CHB][hapmap]
rs6805361	0.80[ASN][1000 genomes]
rs73877215	0.80[ASN][1000 genomes]
rs73877220	0.98[ASN][1000 genomes]
rs7610009	1.00[CHB][hapmap]
rs9820727	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv877690	chr3:158184263-158296916	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv916167	chr3:158240540-158320581	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv877691	chr3:158245883-158359667	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1013242	chr3:158275578-158305894	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1013112	chr3:158280085-158301728	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1001944	chr3:158280085-158305210	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv999408	chr3:158280085-158316431	Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1714522	IQCJ	cis	cerebellum	SCAN
rs1714522	RSRC1	Cis_1M	lymphoblastoid	RTeQTL
rs1714522	LXN	cis	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158279400-158286200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:158282400-158285000	Weak transcription	Fetal Heart	heart
3	chr3:158284200-158284600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:158284200-158284600	Enhancers	Psoas Muscle	Psoas
5	chr3:158284400-158288000	Weak transcription	Brain Angular Gyrus	brain
6	chr3:158284400-158288400	Weak transcription	NHEK	skin

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