Variant report

Variant	rs11237348
Chromosome Location	chr11:77704592-77704593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77529037..77533619-chr11:77704156..77707997,11	MCF-7	breast:
2	chr11:77530218..77533723-chr11:77703658..77708132,10	MCF-7	breast:
3	chr11:77703909..77705487-chr11:77851104..77854100,2	K562	blood:

Variant related genes	Relation type
ENSG00000048649	Chromatin interaction
ENSG00000087884	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1783546	0.89[ASW][hapmap];0.81[CHD][hapmap]
rs1790246	0.89[ASW][hapmap]
rs1793343	0.81[CHD][hapmap]
rs1823508	0.80[YRI][hapmap]
rs2034499	0.88[ASW][hapmap];0.81[CHD][hapmap];0.88[LWK][hapmap];0.88[YRI][hapmap]
rs6592756	0.81[AFR][1000 genomes]
rs7110670	0.84[CHD][hapmap]
rs7938133	0.83[CHD][hapmap]
rs7938648	1.00[YRI][hapmap]
rs9988883	0.89[ASW][hapmap]

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	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11237348	AQP11	cis	parietal	SCAN
rs11237348	PAK1	cis	cerebellum	SCAN
rs11237348	NEU3	cis	parietal	SCAN
rs11237348	INTS4	cis	cerebellum	SCAN
rs11237348	INTS4	cis	parietal	SCAN
rs11237348	INTS4	Cis_1M	lymphoblastoid	RTeQTL
rs11237348	AQP11	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77688200-77704800	Weak transcription	Stomach Mucosa	stomach
2	chr11:77689000-77704800	Weak transcription	Fetal Heart	heart
3	chr11:77689200-77704800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:77691400-77704800	Weak transcription	Colonic Mucosa	Colon
5	chr11:77701600-77704800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:77701600-77704800	Weak transcription	Lung	lung
7	chr11:77701800-77704800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:77702400-77704600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:77702400-77704800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:77702600-77704600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:77702800-77705000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:77702800-77705400	Enhancers	Spleen	Spleen
13	chr11:77703000-77704800	Weak transcription	Aorta	Aorta
14	chr11:77703000-77704800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:77703000-77705000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:77703200-77704800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr11:77703600-77705000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr11:77703800-77704600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:77703800-77704800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:77704000-77704600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:77704000-77704600	Enhancers	A549	lung
22	chr11:77704000-77704600	Flanking Active TSS	GM12878-XiMat	blood
23	chr11:77704000-77704800	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:77704000-77704800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr11:77704000-77704800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:77704000-77704800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:77704000-77704800	Enhancers	Brain Angular Gyrus	brain
28	chr11:77704000-77704800	Enhancers	Brain Substantia Nigra	brain
29	chr11:77704000-77704800	Enhancers	Colon Smooth Muscle	Colon
30	chr11:77704000-77704800	Enhancers	Fetal Intestine Small	intestine
31	chr11:77704000-77704800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:77704000-77704800	Enhancers	Fetal Muscle Leg	muscle
33	chr11:77704000-77705000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr11:77704000-77705000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr11:77704000-77705000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr11:77704000-77705000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:77704000-77705000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:77704000-77705200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:77704200-77704600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:77704200-77704600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:77704200-77704600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:77704200-77704600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:77704200-77704600	Flanking Active TSS	Fetal Brain Male	brain
44	chr11:77704200-77704600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr11:77704200-77704600	Flanking Active TSS	Fetal Lung	lung
46	chr11:77704200-77704600	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr11:77704200-77704600	Flanking Active TSS	HepG2	liver
48	chr11:77704200-77704600	Enhancers	HUVEC	blood vessel
49	chr11:77704200-77704600	Flanking Active TSS	K562	blood
50	chr11:77704200-77704800	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links