Variant report

Variant	rs12950162
Chromosome Location	chr17:37379284-37379285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37355062..37368949-chr17:37377464..37389224,25	K562	blood:
2	chr17:37364623..37366711-chr17:37377477..37380432,2	K562	blood:
3	chr17:37373629..37376608-chr17:37376916..37380039,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108298	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1457818	0.85[EUR][1000 genomes]
rs16968682	0.94[EUR][1000 genomes]
rs34739816	0.90[EUR][1000 genomes]
rs35290672	0.89[EUR][1000 genomes]
rs35421081	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4999757	0.83[EUR][1000 genomes]
rs55771778	0.82[EUR][1000 genomes]
rs67691062	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8080963	0.94[EUR][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	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv908203	chr17:37327165-37405657	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
10	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
11	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37366800-37379800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:37374800-37379800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:37376600-37381000	Weak transcription	Right Atrium	heart
4	chr17:37378600-37379400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr17:37378600-37379600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr17:37378600-37380600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr17:37378800-37379400	Enhancers	HMEC	breast
8	chr17:37378800-37379600	Enhancers	Aorta	Aorta
9	chr17:37378800-37381000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:37379000-37380000	Enhancers	Osteobl	bone
11	chr17:37379000-37380600	Weak transcription	Right Ventricle	heart
12	chr17:37379200-37379400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:37379200-37379400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:37379200-37379400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:37379200-37379400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:37379200-37379400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:37379200-37379600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:37379200-37380000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:37379200-37380400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:37379200-37380800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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