Variant report

Variant	rs1560568
Chromosome Location	chr12:121690587-121690588
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	chr12:121685040..121687317-chr12:121689126..121690781,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10774588	1.00[CEU][hapmap];0.80[TSI][hapmap]
rs10774589	0.91[MEX][hapmap];0.89[AMR][1000 genomes]
rs10849859	1.00[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs10849861	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065483	1.00[CEU][hapmap]
rs11065508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1132780	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151880	1.00[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs1169717	0.85[CHB][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1169718	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12227729	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12227751	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12298365	0.84[EUR][1000 genomes]
rs12304301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288692	0.89[AMR][1000 genomes]
rs25644	1.00[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs2668250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794202	0.89[AMR][1000 genomes]
rs3794203	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794204	0.89[AMR][1000 genomes]
rs3794208	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3815989	1.00[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs4980998	1.00[CEU][hapmap];0.87[GIH][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61216528	0.82[EUR][1000 genomes]
rs7975295	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975297	0.89[AMR][1000 genomes]
rs7975910	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
2	chr12:121662800-121690600	Weak transcription	Fetal Brain Male	brain
3	chr12:121670600-121695000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:121674600-121692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:121674600-121704200	Strong transcription	Brain Germinal Matrix	brain
6	chr12:121677400-121695600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:121679000-121713000	Strong transcription	Fetal Intestine Large	intestine
10	chr12:121679200-121709200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:121679200-121714400	Weak transcription	Right Atrium	heart
12	chr12:121679400-121699000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:121679400-121713800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:121679600-121690800	Weak transcription	K562	blood
15	chr12:121679600-121708800	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:121679600-121709200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:121679600-121713000	Strong transcription	Liver	Liver
18	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
19	chr12:121679800-121694600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:121679800-121703200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:121679800-121709000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:121679800-121713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:121679800-121713600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:121680000-121709800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:121680200-121690600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:121680400-121690600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:121680800-121713800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:121681000-121709000	Strong transcription	Adipose Nuclei	Adipose
29	chr12:121681000-121712600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr12:121681200-121693400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr12:121681200-121693800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:121681200-121706400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:121681200-121708800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:121681200-121713600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:121681400-121708800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:121681600-121694000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:121681800-121690600	Weak transcription	NH-A	brain
41	chr12:121681800-121690800	Weak transcription	Fetal Kidney	kidney
42	chr12:121682200-121695000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:121684400-121691000	Strong transcription	Fetal Thymus	thymus
44	chr12:121684600-121696000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:121684800-121693000	Strong transcription	Brain Hippocampus Middle	brain
46	chr12:121684800-121693400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:121684800-121693800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:121684800-121693800	Strong transcription	Left Ventricle	heart
49	chr12:121684800-121694600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr12:121684800-121694600	Strong transcription	Dnd41	blood

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