Variant report

Variant	rs3802743
Chromosome Location	chr11:66627483-66627484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66626403..66628670-chr11:67229720..67232252,2	K562	blood:
2	chr11:66627328..66627831-chr4:153457574..153458265,2	Hela-S3	cervix:
3	chr11:66623687..66627715-chr11:66700423..66703089,3	K562	blood:

Variant related genes	Relation type
ENSG00000266423	Chromatin interaction
ENSG00000268471	Chromatin interaction
ENSG00000270169	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1127145	1.00[ASN][1000 genomes]
rs11828542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147932	1.00[ASN][1000 genomes]
rs2380757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2380758	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500496	1.00[ASN][1000 genomes]
rs56803995	1.00[ASN][1000 genomes]
rs57240313	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57410747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57466874	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58800112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59431265	1.00[ASN][1000 genomes]
rs59538303	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59550560	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59566349	1.00[ASN][1000 genomes]
rs59932755	1.00[ASN][1000 genomes]
rs60651024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61634527	1.00[ASN][1000 genomes]
rs7952232	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription 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 target site	70 gene(s)	inside rSNPs	diseases
3	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66624200-66645000	Weak transcription	Fetal Kidney	kidney
2	chr11:66624400-66627600	Weak transcription	Brain Substantia Nigra	brain
3	chr11:66624400-66630800	Weak transcription	NHEK	skin
4	chr11:66624400-66636000	Weak transcription	Primary T cells from cord blood	blood
5	chr11:66624400-66637400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:66624400-66640200	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:66624600-66628200	Weak transcription	Pancreas	Pancrea
8	chr11:66624800-66637400	Weak transcription	Aorta	Aorta
9	chr11:66625000-66627600	Enhancers	Fetal Brain Male	brain
10	chr11:66625000-66631200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:66625000-66636200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:66625000-66648800	Weak transcription	Right Atrium	heart
13	chr11:66625200-66627800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:66625200-66628400	Weak transcription	NHDF-Ad	bronchial
15	chr11:66625200-66628800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:66625200-66631200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:66625400-66627600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:66625400-66628200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:66625400-66628200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:66625400-66628200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:66625400-66628200	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr11:66625400-66628400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:66625400-66628400	Genic enhancers	Adipose Nuclei	Adipose
24	chr11:66625400-66629400	Weak transcription	Brain Angular Gyrus	brain
25	chr11:66625400-66629600	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:66625400-66630800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:66625400-66631200	Weak transcription	Brain Anterior Caudate	brain
28	chr11:66625400-66631600	Weak transcription	HSMMtube	muscle
29	chr11:66625400-66632000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:66625400-66632200	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:66625400-66632800	Weak transcription	HepG2	liver
32	chr11:66625400-66634600	Strong transcription	Fetal Stomach	stomach
33	chr11:66625400-66636000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:66625400-66636000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:66625400-66642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:66625400-66642200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:66625400-66645400	Weak transcription	Fetal Lung	lung
38	chr11:66625400-66645800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:66625400-66648000	Weak transcription	Left Ventricle	heart
40	chr11:66625400-66650600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:66625600-66627600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:66625600-66627600	Weak transcription	Placenta	Placenta
43	chr11:66625600-66628000	Strong transcription	Right Ventricle	heart
44	chr11:66625600-66628200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:66625600-66628200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:66625600-66628800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:66625600-66628800	Strong transcription	Thymus	Thymus
48	chr11:66625600-66629000	Genic enhancers	Fetal Muscle Leg	muscle
49	chr11:66625600-66630200	Strong transcription	NHLF	lung
50	chr11:66625600-66631800	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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