Variant report

Variant	rs2389637
Chromosome Location	chr7:16435177-16435178
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16423939..16426216-chr7:16434967..16437061,2	K562	blood:
2	chr7:16433382..16436329-chr7:16629318..16633087,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10224376	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10230422	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10243957	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10243958	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10249194	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10249463	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10249467	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10252363	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10256679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261299	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10263566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10265000	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10273509	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11972185	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11973206	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17169442	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17169450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17169467	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17169469	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2178600	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4351323	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4530922	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4637711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4721495	0.88[AMR][1000 genomes]
rs57386004	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57751249	0.83[AMR][1000 genomes]
rs57864877	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58419085	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58989277	0.83[AMR][1000 genomes]
rs6960236	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73291276	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73291285	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73306450	0.88[AMR][1000 genomes]
rs73306454	0.88[AMR][1000 genomes]
rs73306479	0.88[AMR][1000 genomes]
rs73306498	0.88[AMR][1000 genomes]
rs73306499	0.88[AMR][1000 genomes]
rs73308411	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73308428	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7350036	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7778635	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7793920	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7801162	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9886310	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757215	chr7:16346139-16458474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv508447	chr7:16360614-16446053	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1031019	chr7:16377519-16458474	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1028556	chr7:16404615-16440024	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv523408	chr7:16413481-16438357	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16417600-16436800	Weak transcription	Right Ventricle	heart
2	chr7:16432600-16439600	Weak transcription	Ovary	ovary
3	chr7:16432800-16436800	Weak transcription	Pancreas	Pancrea
4	chr7:16434000-16435800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:16434400-16435200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:16434400-16435200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:16434400-16435200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach

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