Variant report

Variant	rs549461
Chromosome Location	chr11:64423032-64423033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64072922..64075153-chr11:64420349..64423675,3	MCF-7	breast:
2	chr11:64399040..64400993-chr11:64420914..64423520,3	K562	blood:
3	chr11:64403463..64406447-chr11:64420757..64423034,2	K562	blood:
4	chr11:64124331..64126810-chr11:64420687..64423364,2	K562	blood:

Variant related genes	Relation type
ENSG00000173153	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000162302	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10792443	0.85[ASN][1000 genomes]
rs11231845	0.86[ASN][1000 genomes]
rs11606370	0.85[ASN][1000 genomes]
rs11607663	0.85[ASN][1000 genomes]
rs2277311	0.86[ASN][1000 genomes]
rs2360873	0.85[ASN][1000 genomes]
rs2666559	0.85[ASN][1000 genomes]
rs35195142	0.85[ASN][1000 genomes]
rs475642	0.87[ASN][1000 genomes]
rs477138	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs492175	0.85[ASN][1000 genomes]
rs4930556	0.85[ASN][1000 genomes]
rs495130	0.85[ASN][1000 genomes]
rs504915	0.83[ASN][1000 genomes]
rs506338	0.85[ASN][1000 genomes]
rs518053	0.85[ASN][1000 genomes]
rs519090	0.85[ASN][1000 genomes]
rs526338	0.88[ASN][1000 genomes]
rs544838	0.85[ASN][1000 genomes]
rs555456	0.88[ASN][1000 genomes]
rs7102344	0.85[ASN][1000 genomes]
rs7932437	0.84[ASN][1000 genomes]
rs80841	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
9	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
11	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
13	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64411600-64427800	Weak transcription	Aorta	Aorta
2	chr11:64412400-64428200	Weak transcription	Right Atrium	heart
3	chr11:64412600-64425600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64415000-64423600	Weak transcription	NHDF-Ad	bronchial
5	chr11:64415800-64430000	Weak transcription	Gastric	stomach
6	chr11:64417000-64423400	Weak transcription	HSMMtube	muscle
7	chr11:64420200-64426200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:64420400-64423800	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:64420400-64424000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:64420400-64424800	Enhancers	Adipose Nuclei	Adipose
11	chr11:64420400-64425000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:64420400-64425200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:64420400-64427800	Enhancers	Fetal Thymus	thymus
14	chr11:64420600-64424000	Enhancers	Primary B cells from cord blood	blood
15	chr11:64420600-64426600	Weak transcription	A549	lung
16	chr11:64420800-64423800	Weak transcription	Fetal Lung	lung
17	chr11:64420800-64426400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:64421000-64423200	Weak transcription	Brain Anterior Caudate	brain
19	chr11:64421000-64423800	Weak transcription	K562	blood
20	chr11:64421000-64424000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:64421000-64424000	Weak transcription	Thymus	Thymus
22	chr11:64421000-64424800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:64421000-64425000	Weak transcription	Fetal Brain Female	brain
24	chr11:64421000-64425200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:64421000-64427200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:64421000-64434800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:64421200-64427000	Weak transcription	Brain Angular Gyrus	brain
28	chr11:64421200-64453800	Weak transcription	Fetal Brain Male	brain
29	chr11:64421400-64428600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:64421600-64423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:64421800-64424800	Enhancers	Placenta	Placenta
32	chr11:64422000-64423800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:64422000-64425000	Enhancers	Liver	Liver
34	chr11:64422200-64423200	Enhancers	GM12878-XiMat	blood
35	chr11:64422200-64423600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:64422200-64424000	Enhancers	Spleen	Spleen
37	chr11:64422200-64424400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr11:64422200-64424600	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:64422200-64424600	Enhancers	Brain Hippocampus Middle	brain
40	chr11:64422400-64424000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:64422400-64427200	Weak transcription	Brain Substantia Nigra	brain
42	chr11:64422600-64423400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:64422600-64423400	Weak transcription	HSMM	muscle
44	chr11:64422600-64424800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:64422800-64427400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:64423000-64423400	Weak transcription	Fetal Muscle Leg	muscle
47	chr11:64423000-64424400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:64423000-64424400	Enhancers	Osteobl	bone
49	chr11:64423000-64424600	Flanking Active TSS	Hela-S3	cervix
50	chr11:64423000-64430400	Strong transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links