Variant report

Variant	rs12278242
Chromosome Location	chr11:100575334-100575335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100568090..100569929-chr11:100572714..100575378,2	K562	blood:
2	chr11:100574599..100577335-chr11:100579231..100582254,4	K562	blood:
3	chr11:100572186..100576891-chr11:100577212..100582254,4	K562	blood:
4	chr11:100567119..100569590-chr11:100572714..100575535,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11224405	0.89[ASN][1000 genomes]
rs11824393	0.89[ASN][1000 genomes]
rs11824432	0.89[ASN][1000 genomes]
rs12284151	0.89[ASN][1000 genomes]
rs12291857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295008	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095426	1.00[JPT][hapmap]
rs17095428	1.00[JPT][hapmap]
rs17095429	1.00[JPT][hapmap]
rs17095438	1.00[JPT][hapmap]
rs17095439	1.00[JPT][hapmap]
rs2298610	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298611	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4121392	1.00[JPT][hapmap]
rs4753983	0.89[ASN][1000 genomes]
rs499241	1.00[JPT][hapmap]
rs57637131	0.89[ASN][1000 genomes]
rs61472500	0.84[ASN][1000 genomes]
rs61621482	0.89[ASN][1000 genomes]
rs61908744	0.84[ASN][1000 genomes]
rs61908745	0.84[ASN][1000 genomes]
rs61910476	0.84[ASN][1000 genomes]
rs61910478	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61910480	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61910505	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61910508	0.89[ASN][1000 genomes]
rs6590818	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7105842	1.00[JPT][hapmap]
rs7110872	1.00[JPT][hapmap]
rs7120712	1.00[JPT][hapmap]
rs7126015	0.89[ASN][1000 genomes]
rs7129917	0.95[ASN][1000 genomes]
rs73001993	0.85[ASN][1000 genomes]
rs73003836	0.89[ASN][1000 genomes]
rs7927197	1.00[JPT][hapmap]
rs7942588	1.00[JPT][hapmap]
rs7945336	0.84[ASN][1000 genomes]
rs7945656	1.00[ASN][1000 genomes]
rs7947761	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv898327	chr11:100569021-100631075	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100559800-100580000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr11:100559800-100580000	Weak transcription	HSMM	muscle
3	chr11:100560200-100576400	Weak transcription	Primary B cells from cord blood	blood
4	chr11:100560200-100580000	Weak transcription	NH-A	brain
5	chr11:100560200-100580600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:100560800-100578400	Weak transcription	Pancreas	Pancrea
7	chr11:100560800-100580200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:100561000-100578400	Weak transcription	Ovary	ovary
9	chr11:100561000-100590200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:100561000-100590600	Weak transcription	Lung	lung
11	chr11:100563600-100578400	Weak transcription	Gastric	stomach
12	chr11:100563600-100579800	Weak transcription	Liver	Liver
13	chr11:100563800-100579800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:100563800-100585800	Weak transcription	Adipose Nuclei	Adipose
15	chr11:100564000-100583200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:100564400-100586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:100565400-100578400	Weak transcription	Left Ventricle	heart
18	chr11:100565800-100585200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:100566800-100590000	Weak transcription	Fetal Stomach	stomach
20	chr11:100567200-100583600	Weak transcription	Fetal Intestine Small	intestine
21	chr11:100567600-100583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:100571200-100576600	Weak transcription	NHLF	lung
23	chr11:100572000-100579600	Weak transcription	A549	lung
24	chr11:100572200-100579800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:100572400-100580000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:100572400-100580000	Weak transcription	Fetal Lung	lung
27	chr11:100572400-100582800	Weak transcription	Fetal Intestine Large	intestine
28	chr11:100572400-100583200	Weak transcription	Stomach Mucosa	stomach
29	chr11:100572400-100590000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:100572400-100590200	Weak transcription	Placenta	Placenta
31	chr11:100573200-100576000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:100573800-100575400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:100574400-100575400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:100574400-100575400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:100574400-100575600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:100574400-100576000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr11:100574600-100575400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:100574600-100575400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:100574600-100575400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:100574600-100575600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr11:100574600-100575800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:100574800-100575400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:100574800-100575600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:100575000-100575400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:100575000-100575400	Enhancers	Brain Hippocampus Middle	brain
46	chr11:100575000-100575400	Enhancers	HMEC	breast
47	chr11:100575200-100575400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:100575200-100575400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr11:100575200-100575600	Weak transcription	Fetal Heart	heart
50	chr11:100575200-100579800	Weak transcription	Fetal Muscle Leg	muscle

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