Variant report

Variant	rs12806363
Chromosome Location	chr11:64138447-64138448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64126994..64130294-chr11:64137012..64139109,4	MCF-7	breast:
2	chr11:64122785..64130803-chr11:64136171..64143726,15	K562	blood:
3	chr11:64136140..64139047-chr11:64144668..64147875,3	MCF-7	breast:
4	chr11:64121829..64128526-chr11:64138236..64143726,11	K562	blood:

Variant related genes	Relation type
ENSG00000162302	Chromatin interaction
ENSG00000168071	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11231769	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11231775	0.81[AFR][1000 genomes]
rs3782101	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6591843	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
2	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
4	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
5	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
6	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
7	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
9	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
10	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
11	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv897689	chr11:64109118-64148420	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12806363	AP003774.1	cis	Whole Blood	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64127400-64140000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:64127400-64144400	Weak transcription	Psoas Muscle	Psoas
3	chr11:64127600-64139600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:64127800-64139800	Strong transcription	Fetal Intestine Small	intestine
5	chr11:64127800-64146800	Weak transcription	Fetal Heart	heart
6	chr11:64128000-64138800	Strong transcription	Ovary	ovary
7	chr11:64128000-64139000	Strong transcription	Primary T cells from cord blood	blood
8	chr11:64128000-64139000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:64128000-64140000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:64128200-64138800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:64128200-64138800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr11:64128200-64139400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:64128200-64139600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:64128200-64139600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:64128200-64139800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:64128200-64140000	Strong transcription	Lung	lung
17	chr11:64128400-64139000	Strong transcription	Adipose Nuclei	Adipose
18	chr11:64128400-64139400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:64128400-64139600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:64128400-64140400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:64128600-64139200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:64128800-64139800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:64129000-64139600	Strong transcription	Gastric	stomach
24	chr11:64129000-64140200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:64129200-64138800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:64129200-64139800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:64129400-64140200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:64130000-64138600	Strong transcription	Fetal Thymus	thymus
29	chr11:64130000-64140000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:64130000-64142400	Weak transcription	Stomach Mucosa	stomach
31	chr11:64130200-64140000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:64131000-64140600	Weak transcription	HepG2	liver
33	chr11:64132800-64139200	Strong transcription	Small Intestine	intestine
34	chr11:64132800-64140400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:64133000-64138600	Weak transcription	Primary B cells from cord blood	blood
36	chr11:64133000-64139200	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:64133200-64139600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:64133200-64140400	Weak transcription	HUVEC	blood vessel
39	chr11:64134000-64139000	Strong transcription	Right Ventricle	heart
40	chr11:64134400-64138600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:64134400-64138600	Weak transcription	NHDF-Ad	bronchial
42	chr11:64134400-64139800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:64134400-64140200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:64134400-64140600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:64134400-64140800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:64134400-64150200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:64134400-64158400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:64134600-64140800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:64134600-64140800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:64134800-64138800	Strong transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links