Variant report

Variant	rs11231914
Chromosome Location	chr11:64739924-64739925
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:64739085-64740041	H1-hESC	embryonic stem cell:	n/a	chr11:64739130-64739140
2	MAX	chr11:64739174-64739953	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr11:64738937-64740067	H1-hESC	embryonic stem cell:	n/a	chr11:64739629-64739638 chr11:64739565-64739574 chr11:64739711-64739718 chr11:64739711-64739718 chr11:64739710-64739719 chr11:64739711-64739718 chr11:64738938-64738947 chr11:64738938-64738950
4	PAX5	chr11:64739435-64739986	GM12878	blood:	n/a	chr11:64739629-64739638 chr11:64739565-64739574
5	POLR2A	chr11:64739915-64739957	K562	blood:	n/a	n/a
6	TCF12	chr11:64739068-64739927	A549	lung:	n/a	n/a
7	E2F6	chr11:64739077-64739985	A549	lung:	n/a	chr11:64739629-64739638 chr11:64739565-64739574 chr11:64739711-64739718 chr11:64739711-64739718 chr11:64739710-64739719 chr11:64739711-64739718
8	MAX	chr11:64739040-64740055	A549	lung:	n/a	chr11:64739130-64739140
9	MTA3	chr11:64739620-64739957	GM12878	blood:	n/a	n/a
10	MAX	chr11:64739132-64739948	K562	blood:	n/a	n/a
11	JUN	chr11:64739120-64740025	K562	blood:	n/a	n/a
12	CBX3	chr11:64739210-64739926	K562	blood:	n/a	n/a
13	E2F6	chr11:64739163-64739982	H1-hESC	embryonic stem cell:	n/a	chr11:64739629-64739638 chr11:64739565-64739574 chr11:64739711-64739718 chr11:64739711-64739718 chr11:64739710-64739719 chr11:64739711-64739718
14	E2F6	chr11:64739024-64739926	K562	blood:	n/a	chr11:64739629-64739638 chr11:64739565-64739574 chr11:64739711-64739718 chr11:64739711-64739718 chr11:64739710-64739719 chr11:64739711-64739718
15	MAX	chr11:64739174-64739978	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64739428..64743212-chr11:64780553..64782608,3	K562	blood:
2	chr11:64690400..64694324-chr11:64737120..64740822,5	K562	blood:
3	chr11:64727356..64729952-chr11:64739370..64742304,2	K562	blood:

Variant related genes	Relation type
C11orf85	TF binding region
ENSG00000168070	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000213465	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11231898	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs11231909	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231924	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270141	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272785	1.00[YRI][hapmap]
rs12274449	1.00[YRI][hapmap]
rs12277345	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282348	0.85[YRI][hapmap]
rs12290575	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61741398	1.00[AMR][1000 genomes]
rs61746812	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111659	0.91[AFR][1000 genomes];1.00[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer 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	1029 gene(s)	inside rSNPs	diseases
3	nsv976460	chr11:64727780-64743097	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64739000-64740000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:64739000-64740000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr11:64739000-64740000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr11:64739000-64740000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:64739000-64740000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr11:64739000-64740000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:64739000-64740000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:64739000-64740000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:64739000-64740000	Flanking Active TSS	Colonic Mucosa	Colon
10	chr11:64739000-64740000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr11:64739000-64740000	Flanking Active TSS	Lung	lung
12	chr11:64739000-64740000	Flanking Active TSS	Pancreas	Pancrea
13	chr11:64739000-64740000	Active TSS	Psoas Muscle	Psoas
14	chr11:64739000-64740000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr11:64739000-64740000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:64739000-64740000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr11:64739000-64740000	Enhancers	Small Intestine	intestine
18	chr11:64739000-64741800	Enhancers	Fetal Brain Male	brain
19	chr11:64739200-64740000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:64739200-64740000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
21	chr11:64739200-64740000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr11:64739200-64740000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:64739200-64740000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:64739200-64740000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:64739200-64740000	Flanking Active TSS	Liver	Liver
26	chr11:64739200-64740000	Active TSS	Brain Anterior Caudate	brain
27	chr11:64739200-64740000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr11:64739200-64740000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr11:64739200-64740000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr11:64739200-64740000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr11:64739200-64740000	Flanking Active TSS	Ovary	ovary
32	chr11:64739200-64740000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr11:64739400-64740000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:64739400-64740000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:64739400-64740000	Active TSS	Fetal Kidney	kidney
36	chr11:64739400-64740000	Bivalent/Poised TSS	Fetal Lung	lung
37	chr11:64739400-64740000	Flanking Active TSS	GM12878-XiMat	blood
38	chr11:64739600-64740000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:64739600-64740000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr11:64739600-64740000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr11:64739600-64740000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr11:64739600-64740000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
43	chr11:64739600-64740000	Flanking Active TSS	Esophagus	oesophagus
44	chr11:64739600-64740000	Active TSS	Left Ventricle	heart
45	chr11:64739600-64740000	Active TSS	Rectal Smooth Muscle	rectum
46	chr11:64739600-64740000	Flanking Active TSS	Right Atrium	heart
47	chr11:64739600-64740000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr11:64739600-64740000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr11:64739600-64740000	Enhancers	HUVEC	blood vessel
50	chr11:64739600-64740200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood

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