Variant report

Variant	rs73494128
Chromosome Location	chr11:63656195-63656196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63580299..63582440-chr11:63655697..63658299,3	K562	blood:
2	chr11:63655390..63658583-chr11:63705235..63708313,3	K562	blood:
3	chr11:63654599..63657425-chr11:63952225..63954812,2	K562	blood:
4	chr11:63655513..63657526-chr11:63661698..63663347,2	MCF-7	breast:
5	chr11:63655788..63657631-chr11:63684271..63685886,2	K562	blood:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11825727	1.00[AMR][1000 genomes]
rs57058815	1.00[AMR][1000 genomes]
rs58822345	1.00[AMR][1000 genomes]
rs59054123	1.00[AMR][1000 genomes]
rs59146342	1.00[AMR][1000 genomes]
rs60725842	1.00[AMR][1000 genomes]
rs61184552	1.00[AMR][1000 genomes]
rs7125886	1.00[AMR][1000 genomes]
rs73492260	1.00[AMR][1000 genomes]
rs73492262	1.00[AMR][1000 genomes]
rs73492266	1.00[AMR][1000 genomes]
rs73492273	1.00[AMR][1000 genomes]
rs73492274	1.00[AMR][1000 genomes]
rs73492287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494126	1.00[AMR][1000 genomes]
rs73494144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494160	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494167	1.00[AMR][1000 genomes]
rs73494181	1.00[AMR][1000 genomes]
rs73496034	1.00[AMR][1000 genomes]
rs73496075	1.00[AMR][1000 genomes]
rs73496090	1.00[AMR][1000 genomes]
rs73496096	1.00[AMR][1000 genomes]
rs73496099	1.00[AMR][1000 genomes]
rs73496100	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63650800-63657600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:63652000-63659600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:63652200-63659400	Weak transcription	Fetal Brain Female	brain
4	chr11:63654200-63656400	Enhancers	A549	lung
5	chr11:63654200-63658000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:63654200-63658400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:63654400-63656200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:63654400-63656200	Enhancers	Primary hematopoietic stem cells	blood
9	chr11:63654400-63656200	Enhancers	Spleen	Spleen
10	chr11:63654400-63656400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:63654400-63656600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr11:63654400-63656800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:63654400-63656800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:63654400-63656800	Enhancers	Psoas Muscle	Psoas
15	chr11:63654400-63657200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:63654400-63657200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:63654400-63657200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr11:63654400-63657800	Enhancers	Brain Substantia Nigra	brain
19	chr11:63654400-63658200	Enhancers	Lung	lung
20	chr11:63654400-63659000	Enhancers	Brain Angular Gyrus	brain
21	chr11:63654600-63656800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:63654600-63657600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:63654800-63656200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:63654800-63656200	Enhancers	NHLF	lung
25	chr11:63654800-63656400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:63654800-63656400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:63654800-63656600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:63654800-63656800	Enhancers	Fetal Lung	lung
29	chr11:63654800-63657200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr11:63654800-63664000	Weak transcription	Fetal Brain Male	brain
31	chr11:63655000-63656200	Enhancers	Hela-S3	cervix
32	chr11:63655000-63656200	Enhancers	NH-A	brain
33	chr11:63655000-63656400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr11:63655000-63656400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:63655000-63656400	Flanking Active TSS	GM12878-XiMat	blood
36	chr11:63655000-63656400	Flanking Active TSS	Osteobl	bone
37	chr11:63655000-63656800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr11:63655000-63656800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:63655000-63657800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr11:63655200-63656200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:63655200-63656400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:63655200-63656400	Enhancers	HUVEC	blood vessel
43	chr11:63655200-63656600	Flanking Active TSS	Thymus	Thymus
44	chr11:63655200-63656800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr11:63655200-63656800	Flanking Active TSS	Dnd41	blood
46	chr11:63655200-63657000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:63655200-63657600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr11:63655200-63657800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr11:63655400-63658000	Active TSS	Rectal Smooth Muscle	rectum
50	chr11:63655600-63656200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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