Variant report

Variant	rs12795307
Chromosome Location	chr11:72506324-72506325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72502078..72507217-chr11:72523813..72527208,9	K562	blood:
2	chr11:72432212..72438079-chr11:72503579..72507160,8	MCF-7	breast:
3	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
4	chr11:72503176..72507418-chr11:72523751..72527635,5	MCF-7	breast:
5	chr11:72505215..72506890-chr11:72507614..72509315,3	MCF-7	breast:
6	chr11:72433323..72435429-chr11:72502768..72506514,3	K562	blood:

Variant related genes	Relation type
ENSG00000168010	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs481206	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944014	0.82[ASN][1000 genomes]
rs519790	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs663015	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12795307	STARD10	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72505200-72508800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:72505200-72509000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:72505200-72509000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:72505200-72509000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:72505200-72509400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:72505400-72506600	Enhancers	Placenta	Placenta
7	chr11:72505400-72507200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:72505400-72509000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:72505400-72509000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:72505600-72506600	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:72505600-72506600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:72505600-72506800	Enhancers	Fetal Thymus	thymus
13	chr11:72505600-72506800	Enhancers	Thymus	Thymus
14	chr11:72505600-72509000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:72505600-72509200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:72505600-72509200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:72505600-72523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:72505800-72506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:72505800-72506600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:72505800-72506600	Enhancers	Fetal Heart	heart
21	chr11:72505800-72506600	Enhancers	K562	blood
22	chr11:72505800-72506600	Enhancers	NH-A	brain
23	chr11:72505800-72506800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:72505800-72509000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:72505800-72509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:72505800-72509000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:72505800-72519200	Weak transcription	GM12878-XiMat	blood
28	chr11:72505800-72519400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:72505800-72519800	Weak transcription	Fetal Intestine Small	intestine
30	chr11:72505800-72520200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:72505800-72523000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:72505800-72523600	Weak transcription	Stomach Mucosa	stomach
33	chr11:72506000-72506400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:72506000-72506600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:72506000-72506600	Enhancers	Dnd41	blood
36	chr11:72506000-72506800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:72506000-72506800	Enhancers	Hela-S3	cervix
38	chr11:72506000-72508000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr11:72506000-72508800	Weak transcription	Adipose Nuclei	Adipose
40	chr11:72506000-72509400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:72506000-72509400	Weak transcription	A549	lung
42	chr11:72506000-72509800	Weak transcription	Brain Germinal Matrix	brain
43	chr11:72506000-72516400	Weak transcription	Primary B cells from cord blood	blood
44	chr11:72506000-72518800	Weak transcription	Fetal Stomach	stomach
45	chr11:72506000-72519400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:72506000-72519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:72506000-72519400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:72506000-72519400	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:72506000-72519600	Weak transcription	HMEC	breast
50	chr11:72506000-72520000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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