Variant report

Variant	rs16908222
Chromosome Location	chr12:12680166-12680167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12676963..12678914-chr12:12679102..12682035,2	MCF-7	breast:
2	chr12:12679007..12681498-chr12:12683733..12686607,2	K562	blood:
3	chr12:12675003..12677370-chr12:12678643..12681429,2	K562	blood:
4	chr12:12673839..12677511-chr12:12678935..12682743,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11830917	1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16908006	1.00[CHD][hapmap]
rs17312912	1.00[CHD][hapmap]
rs1861674	1.00[CHD][hapmap]
rs3741797	1.00[CHD][hapmap]
rs4237940	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4763289	1.00[CHD][hapmap]
rs4763837	1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763838	1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55946424	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56279058	1.00[ASN][1000 genomes]
rs58443254	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60909736	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133988	1.00[CHD][hapmap]
rs73063452	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063453	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7980390	1.00[CHD][hapmap]
rs888198	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv523022	chr12:12673551-12688181	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
2	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
3	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:12660000-12681800	Weak transcription	Fetal Kidney	kidney
5	chr12:12660400-12686200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:12664000-12690400	Weak transcription	NHLF	lung
7	chr12:12665000-12684400	Weak transcription	NHDF-Ad	bronchial
8	chr12:12665000-12685600	Weak transcription	HMEC	breast
9	chr12:12665000-12686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:12666800-12681200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:12667400-12686400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:12667600-12680800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:12668000-12680800	Weak transcription	Right Atrium	heart
14	chr12:12671200-12681200	Weak transcription	HUVEC	blood vessel
15	chr12:12671400-12686200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:12671400-12686200	Weak transcription	Fetal Stomach	stomach
17	chr12:12671600-12680800	Weak transcription	Lung	lung
18	chr12:12672400-12680600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:12672800-12691200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:12673000-12680600	Weak transcription	Osteobl	bone
21	chr12:12673000-12680800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:12673000-12680800	Weak transcription	Ovary	ovary
23	chr12:12673000-12681200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:12673000-12685200	Weak transcription	NHEK	skin
25	chr12:12673000-12690200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:12673200-12680800	Weak transcription	A549	lung
27	chr12:12673200-12682600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:12674200-12680800	Weak transcription	Placenta	Placenta
29	chr12:12674200-12691200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:12674400-12680600	Weak transcription	Esophagus	oesophagus
31	chr12:12674400-12680600	Weak transcription	GM12878-XiMat	blood
32	chr12:12674400-12680800	Weak transcription	Aorta	Aorta
33	chr12:12674400-12681000	Weak transcription	Adipose Nuclei	Adipose
34	chr12:12674400-12681200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:12674400-12681200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:12674400-12682000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:12674400-12683000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:12674400-12685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:12674600-12681000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:12674600-12686200	Weak transcription	NH-A	brain
41	chr12:12675200-12680200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:12675400-12680200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:12675400-12680800	Weak transcription	Spleen	Spleen
44	chr12:12675400-12681200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:12677000-12680800	Weak transcription	Gastric	stomach
46	chr12:12677200-12686200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:12677400-12680600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:12677400-12680600	Weak transcription	Brain Substantia Nigra	brain
49	chr12:12677400-12680600	Weak transcription	Fetal Thymus	thymus
50	chr12:12677400-12680600	Weak transcription	HepG2	liver

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