Variant report

Variant	rs12102366
Chromosome Location	chr16:82909420-82909421
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82902612..82905011-chr16:82906769..82909567,2	K562	blood:
2	chr16:82862726..82865339-chr16:82908462..82910658,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12102311	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12102653	1.00[AMR][1000 genomes]
rs12103152	1.00[AMR][1000 genomes]
rs12103389	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13331344	1.00[AMR][1000 genomes]
rs13338537	1.00[AFR][1000 genomes]
rs16958941	1.00[AMR][1000 genomes]
rs28432212	1.00[AMR][1000 genomes]
rs28550766	1.00[AMR][1000 genomes]
rs28578186	1.00[AMR][1000 genomes]
rs28756196	1.00[AMR][1000 genomes]
rs8053876	1.00[AMR][1000 genomes]
rs9922544	1.00[AMR][1000 genomes]
rs9924245	1.00[YRI][hapmap]
rs9924337	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926637	1.00[AMR][1000 genomes]
rs9929103	1.00[AMR][1000 genomes]
rs9929449	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9930035	1.00[AMR][1000 genomes]
rs9931358	1.00[YRI][hapmap]
rs9932185	1.00[AMR][1000 genomes]
rs9932493	1.00[AMR][1000 genomes]
rs9933027	1.00[AMR][1000 genomes]
rs9933230	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9933340	1.00[AMR][1000 genomes]
rs9936026	1.00[AMR][1000 genomes]
rs9937448	1.00[AMR][1000 genomes]
rs9937544	1.00[AMR][1000 genomes]
rs9944318	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription 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	12 gene(s)	inside rSNPs	diseases
5	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv573382	chr16:82905546-82950502	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82886200-82917000	Weak transcription	Right Ventricle	heart
2	chr16:82899400-82909800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:82901200-82910400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82905000-82910400	Weak transcription	HSMMtube	muscle
5	chr16:82905600-82921000	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:82905800-82924800	Weak transcription	HSMM	muscle
7	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:82907600-82909800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:82908600-82912400	Weak transcription	Colon Smooth Muscle	Colon
10	chr16:82908800-82910200	Weak transcription	Fetal Heart	heart
11	chr16:82908800-82910800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:82908800-82911800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:82908800-82912200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:82908800-82912200	Weak transcription	Psoas Muscle	Psoas
15	chr16:82908800-82914000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr16:82908800-82915000	Weak transcription	Left Ventricle	heart
17	chr16:82908800-82915000	Weak transcription	Right Atrium	heart
18	chr16:82908800-82922000	Weak transcription	Aorta	Aorta
19	chr16:82909000-82915000	Weak transcription	Fetal Brain Male	brain
20	chr16:82909400-82915200	Weak transcription	HUVEC	blood vessel

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