Variant report

Variant	rs12294170
Chromosome Location	chr11:102231141-102231142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102225214..102227946-chr11:102230346..102233132,3	K562	blood:
2	chr11:102217363..102222814-chr11:102227902..102233521,10	K562	blood:
3	chr11:102217363..102223592-chr11:102226307..102231269,9	K562	blood:
4	chr11:102225214..102228493-chr11:102230346..102233413,3	K562	blood:

Variant related genes	Relation type
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10082693	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10466639	1.00[AMR][1000 genomes]
rs11225219	1.00[AMR][1000 genomes]
rs11225223	1.00[AMR][1000 genomes]
rs11225228	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11225245	1.00[AMR][1000 genomes]
rs11225246	1.00[AMR][1000 genomes]
rs11604189	1.00[YRI][hapmap]
rs12270723	1.00[AMR][1000 genomes]
rs12270893	1.00[AMR][1000 genomes]
rs12271569	1.00[AMR][1000 genomes]
rs12273819	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275349	1.00[YRI][hapmap]
rs12278619	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12279712	1.00[AMR][1000 genomes]
rs12279854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281328	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282509	1.00[YRI][hapmap]
rs12283520	1.00[AMR][1000 genomes]
rs12283923	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288938	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290870	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12291114	1.00[YRI][hapmap]
rs12291210	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12291456	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12293263	1.00[AMR][1000 genomes]
rs12295864	1.00[AMR][1000 genomes]
rs12296030	1.00[AMR][1000 genomes]
rs12792649	1.00[YRI][hapmap]
rs13377309	1.00[AMR][1000 genomes]
rs13377312	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs36039928	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971623	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS 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 miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102218800-102231600	Weak transcription	Spleen	Spleen
2	chr11:102219000-102231600	Weak transcription	Gastric	stomach
3	chr11:102219000-102231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:102219200-102231600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:102219200-102231600	Weak transcription	Esophagus	oesophagus
6	chr11:102219200-102231800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:102219200-102231800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:102219200-102234400	Weak transcription	Psoas Muscle	Psoas
9	chr11:102219200-102234600	Weak transcription	Ovary	ovary
10	chr11:102219200-102238400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:102219200-102239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:102219400-102231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:102219600-102231600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
15	chr11:102220800-102231400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:102220800-102240000	Strong transcription	Liver	Liver
17	chr11:102221000-102231600	Weak transcription	Aorta	Aorta
18	chr11:102221200-102231400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:102221200-102239800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:102221400-102233200	Weak transcription	HSMMtube	muscle
21	chr11:102221800-102231600	Weak transcription	NHLF	lung
22	chr11:102222200-102234600	Weak transcription	K562	blood
23	chr11:102222400-102231400	Weak transcription	Pancreas	Pancrea
24	chr11:102223400-102231600	Weak transcription	Colonic Mucosa	Colon
25	chr11:102223800-102239800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr11:102224000-102231600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:102224800-102231600	Weak transcription	Left Ventricle	heart
28	chr11:102225000-102231600	Weak transcription	Lung	lung
29	chr11:102225200-102231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:102225400-102231600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:102225400-102231800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:102225600-102255400	Weak transcription	Fetal Heart	heart
33	chr11:102226600-102231600	Weak transcription	Brain Substantia Nigra	brain
34	chr11:102226800-102232000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:102227800-102231400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:102227800-102231600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr11:102227800-102239800	Strong transcription	Placenta	Placenta
38	chr11:102228000-102231200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:102228200-102231400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:102228200-102235200	Weak transcription	Fetal Brain Male	brain
41	chr11:102228800-102231200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:102228800-102231200	ZNF genes & repeats	Fetal Kidney	kidney
43	chr11:102228800-102231200	ZNF genes & repeats	GM12878-XiMat	blood
44	chr11:102228800-102232600	Strong transcription	HSMM	muscle
45	chr11:102228800-102232800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:102228800-102233000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:102228800-102233000	Strong transcription	NH-A	brain
48	chr11:102228800-102239800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:102228800-102239800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:102228800-102239800	Strong transcription	Rectal Mucosa Donor 29	rectum

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