Variant report

Variant	rs12450286
Chromosome Location	chr17:44955527-44955528
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	chr17:44944687..44947867-chr17:44952992..44955738,3	K562	blood:
2	chr17:44948071..44950591-chr17:44953970..44955580,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12452813	1.00[AMR][1000 genomes]
rs12453953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55807756	1.00[AMR][1000 genomes]
rs55892126	1.00[AMR][1000 genomes]
rs60653820	1.00[AMR][1000 genomes]
rs7210725	1.00[AMR][1000 genomes]
rs7215497	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7218079	1.00[AMR][1000 genomes]
rs7224871	1.00[AMR][1000 genomes]
rs73985115	1.00[AMR][1000 genomes]
rs73985116	1.00[AMR][1000 genomes]
rs73985119	1.00[AMR][1000 genomes]
rs73988218	1.00[AMR][1000 genomes]
rs8073803	1.00[AMR][1000 genomes]
rs8080037	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44936000-44956000	Weak transcription	Right Atrium	heart
2	chr17:44950800-44957000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:44952400-44956200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr17:44952400-44956200	Enhancers	Pancreas	Pancrea
5	chr17:44952400-44956800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr17:44953600-44956800	Enhancers	Placenta	Placenta
7	chr17:44953800-44956600	Enhancers	Spleen	Spleen
8	chr17:44954000-44956400	Enhancers	Adipose Nuclei	Adipose
9	chr17:44954000-44956400	Enhancers	Fetal Thymus	thymus
10	chr17:44954200-44955600	Enhancers	Fetal Muscle Trunk	muscle
11	chr17:44954200-44956000	Weak transcription	Right Ventricle	heart
12	chr17:44954400-44956400	Enhancers	Lung	lung
13	chr17:44954400-44956400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr17:44954600-44956400	Enhancers	Brain Hippocampus Middle	brain
15	chr17:44954800-44955600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr17:44954800-44955600	Enhancers	HSMMtube	muscle
17	chr17:44954800-44955800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:44954800-44956000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:44954800-44956000	Enhancers	Thymus	Thymus
20	chr17:44954800-44956200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:44954800-44956200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr17:44954800-44956400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr17:44955000-44955800	Enhancers	Primary hematopoietic stem cells	blood
24	chr17:44955000-44956000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:44955000-44956000	Enhancers	Brain Substantia Nigra	brain
26	chr17:44955000-44956200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr17:44955200-44956000	Enhancers	Primary B cells from cord blood	blood
28	chr17:44955200-44956000	Weak transcription	Esophagus	oesophagus
29	chr17:44955200-44956000	Enhancers	Fetal Muscle Leg	muscle

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