Variant report

Variant	rs11266744
Chromosome Location	chr3:46449978-46449979
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	POLR2A	chr3:46448132-46450759	PBDE	blood:	n/a	n/a
2	JUN	chr3:46447534-46450045	K562	blood:	n/a	chr3:46448150-46448161 chr3:46448153-46448164 chr3:46448607-46448616 chr3:46448154-46448163

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46447015..46450131-chr3:46450692..46453311,4	K562	blood:

Variant related genes	Relation type
CCRL2	TF binding region
ENSG00000223552	TF binding region
ENSG00000121797	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11575815	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11575816	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1800023	0.82[EUR][1000 genomes]
rs1800874	0.81[EUR][1000 genomes]
rs2187674	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2254089	0.82[EUR][1000 genomes]
rs2734225	0.82[EUR][1000 genomes]
rs2734648	0.82[EUR][1000 genomes]
rs2856764	0.82[EUR][1000 genomes]
rs2856765	0.82[EUR][1000 genomes]
rs3087252	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3181039	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3204849	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34682274	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4560336	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683220	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4683222	0.85[ASN][1000 genomes]
rs4683223	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66484806	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs916091	0.82[EUR][1000 genomes];0.86[ASN][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:46445000-46450000	Enhancers	Spleen	Spleen
3	chr3:46446200-46450200	Enhancers	Fetal Lung	lung
4	chr3:46446800-46450600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:46448000-46450000	Enhancers	Brain Substantia Nigra	brain
6	chr3:46448000-46450000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr3:46448200-46450200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr3:46448200-46452000	Enhancers	Dnd41	blood
9	chr3:46448400-46450000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:46448400-46450000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr3:46448400-46450000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr3:46448400-46450200	Flanking Active TSS	HSMM	muscle
13	chr3:46448400-46450200	Flanking Active TSS	Osteobl	bone
14	chr3:46448400-46450400	Enhancers	Fetal Heart	heart
15	chr3:46448600-46450000	Active TSS	Colonic Mucosa	Colon
16	chr3:46448600-46450200	Flanking Active TSS	HUVEC	blood vessel
17	chr3:46448600-46460000	Weak transcription	Gastric	stomach
18	chr3:46448800-46450400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:46449200-46450000	Enhancers	Primary B cells from peripheral blood	blood
20	chr3:46449200-46450000	Enhancers	Brain Cingulate Gyrus	brain
21	chr3:46449200-46450000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr3:46449200-46450000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr3:46449200-46450400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:46449200-46451400	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:46449200-46451800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:46449400-46450000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr3:46449400-46450000	Enhancers	GM12878-XiMat	blood
28	chr3:46449400-46450200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr3:46449400-46450200	Enhancers	Fetal Stomach	stomach
30	chr3:46449400-46450200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr3:46449400-46450200	Enhancers	NHLF	lung
32	chr3:46449400-46450400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:46449400-46450400	Enhancers	Fetal Muscle Leg	muscle
34	chr3:46449400-46450600	Enhancers	Left Ventricle	heart
35	chr3:46449400-46450600	Enhancers	NH-A	brain
36	chr3:46449400-46450800	Enhancers	Psoas Muscle	Psoas
37	chr3:46449400-46453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:46449600-46450000	Enhancers	Brain Anterior Caudate	brain
39	chr3:46449600-46450000	Enhancers	Stomach Mucosa	stomach
40	chr3:46449600-46450200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr3:46449600-46450200	Enhancers	Fetal Intestine Large	intestine
42	chr3:46449600-46450200	Enhancers	Right Atrium	heart
43	chr3:46449600-46450200	Enhancers	Right Ventricle	heart
44	chr3:46449600-46450200	Enhancers	HSMMtube	muscle
45	chr3:46449600-46450400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr3:46449600-46450800	Genic enhancers	Primary T cells from cord blood	blood
47	chr3:46449600-46451000	Genic enhancers	Fetal Intestine Small	intestine
48	chr3:46449600-46451200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:46449600-46451200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:46449600-46452000	Enhancers	K562	blood

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