Variant report

Variant	rs11603727
Chromosome Location	chr11:77703350-77703351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77701991..77703904-chr11:77704276..77705898,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149262	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11237326	0.89[EUR][1000 genomes]
rs11237328	0.93[EUR][1000 genomes]
rs11237329	0.93[EUR][1000 genomes]
rs11237333	0.82[EUR][1000 genomes]
rs11237335	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11237338	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11237341	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11237347	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11501934	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11605955	0.82[EUR][1000 genomes]
rs11606909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606971	0.88[EUR][1000 genomes]
rs11607479	0.83[EUR][1000 genomes]
rs11607512	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12273552	0.87[EUR][1000 genomes]
rs12279880	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12284929	0.89[EUR][1000 genomes]
rs12289316	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12292039	0.91[EUR][1000 genomes]
rs12293597	0.89[EUR][1000 genomes]
rs12799701	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13377546	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17752458	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17825404	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1823507	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2305317	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4123593	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4123595	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55878159	0.90[EUR][1000 genomes]
rs57055061	0.85[EUR][1000 genomes]
rs7115801	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7119720	0.83[EUR][1000 genomes]
rs7131359	0.83[EUR][1000 genomes]
rs72939500	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72941332	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72941339	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72941353	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9630225	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11603727	INTS4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77661400-77704400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:77664200-77704000	Weak transcription	NHEK	skin
3	chr11:77665800-77704200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:77666000-77704400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:77667600-77704200	Weak transcription	NHLF	lung
6	chr11:77671200-77704200	Weak transcription	NHDF-Ad	bronchial
7	chr11:77672000-77703800	Weak transcription	Fetal Brain Male	brain
8	chr11:77679000-77704200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:77681000-77704200	Weak transcription	HSMMtube	muscle
10	chr11:77688200-77704800	Weak transcription	Stomach Mucosa	stomach
11	chr11:77688800-77703400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:77688800-77703400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:77688800-77703800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:77689000-77704800	Weak transcription	Fetal Heart	heart
15	chr11:77689200-77704800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:77690400-77704200	Weak transcription	HMEC	breast
17	chr11:77690600-77703800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:77690600-77704000	Weak transcription	Brain Anterior Caudate	brain
19	chr11:77690600-77704000	Weak transcription	Brain Substantia Nigra	brain
20	chr11:77690600-77704200	Weak transcription	Gastric	stomach
21	chr11:77690600-77704200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:77690600-77704400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:77690800-77704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:77690800-77704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:77690800-77704200	Weak transcription	Small Intestine	intestine
26	chr11:77691400-77704000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:77691400-77704800	Weak transcription	Colonic Mucosa	Colon
28	chr11:77692000-77704000	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:77692600-77704000	Weak transcription	A549	lung
30	chr11:77692600-77704200	Weak transcription	HUVEC	blood vessel
31	chr11:77696200-77703400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:77696400-77704400	Weak transcription	Fetal Kidney	kidney
33	chr11:77696800-77703400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:77697800-77703400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:77698200-77703400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:77698600-77703400	Strong transcription	Thymus	Thymus
37	chr11:77698800-77703400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:77699000-77704000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:77699000-77704000	Weak transcription	Brain Germinal Matrix	brain
40	chr11:77699000-77704000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr11:77700000-77703400	Strong transcription	Fetal Brain Female	brain
42	chr11:77700000-77704000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:77700200-77703400	Strong transcription	Fetal Intestine Small	intestine
44	chr11:77700200-77704200	Strong transcription	Fetal Stomach	stomach
45	chr11:77700800-77703400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:77701200-77704200	Weak transcription	Psoas Muscle	Psoas
47	chr11:77701400-77704000	Weak transcription	Fetal Lung	lung
48	chr11:77701400-77704200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:77701400-77704400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:77701400-77704400	Weak transcription	Esophagus	oesophagus

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