Variant report

Variant	rs57864399
Chromosome Location	chr11:63717194-63717195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63711504..63713608-chr11:63716901..63718545,3	MCF-7	breast:
2	chr11:63715459..63718256-chr11:63725234..63727442,2	MCF-7	breast:
3	chr11:63709857..63711597-chr11:63715784..63718526,2	K562	blood:
4	chr11:63706660..63708213-chr11:63716775..63718492,2	K562	blood:
5	chr11:63714375..63717341-chr11:63743522..63745649,2	K562	blood:

Variant related genes	Relation type
ENSG00000110583	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10897460	1.00[EUR][1000 genomes]
rs11231632	1.00[EUR][1000 genomes]
rs11231634	1.00[EUR][1000 genomes]
rs11231665	1.00[AMR][1000 genomes]
rs11231673	1.00[AMR][1000 genomes]
rs11494059	0.83[AMR][1000 genomes]
rs12099085	1.00[EUR][1000 genomes]
rs12271959	1.00[EUR][1000 genomes]
rs12277386	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285283	1.00[AMR][1000 genomes]
rs12288290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291042	1.00[EUR][1000 genomes]
rs12295918	1.00[EUR][1000 genomes]
rs13377315	1.00[EUR][1000 genomes]
rs17403349	1.00[AMR][1000 genomes]
rs320110	1.00[EUR][1000 genomes]
rs34689425	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56217591	1.00[AMR][1000 genomes]
rs57219930	1.00[EUR][1000 genomes]
rs57868637	1.00[AMR][1000 genomes]
rs58678024	1.00[EUR][1000 genomes]
rs59423787	1.00[EUR][1000 genomes]
rs59502039	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59642000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60107756	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61475860	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61653882	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110433	1.00[EUR][1000 genomes]
rs7929867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7933899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938631	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948681	1.00[EUR][1000 genomes]
rs7952003	1.00[EUR][1000 genomes]
rs9326430	1.00[AMR][1000 genomes]
rs9630214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9630215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9888136	1.00[EUR][1000 genomes]
rs9888177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63707200-63724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63707400-63719600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:63707400-63721400	Weak transcription	Small Intestine	intestine
4	chr11:63707600-63719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:63707600-63720200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:63707800-63719200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:63707800-63719600	Weak transcription	Lung	lung
8	chr11:63708000-63718200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:63708200-63723400	Weak transcription	NH-A	brain
10	chr11:63709000-63719200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:63709400-63718800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:63709600-63719600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:63709800-63718200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:63712400-63717600	Strong transcription	Dnd41	blood
15	chr11:63713000-63717200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:63713200-63718400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:63713200-63719800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:63713200-63719800	Weak transcription	Aorta	Aorta
19	chr11:63713200-63725400	Weak transcription	Psoas Muscle	Psoas
20	chr11:63713200-63725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:63713400-63717200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:63713400-63718400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:63713400-63718400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:63713400-63719400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:63713400-63719600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:63713400-63719600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:63713400-63719800	Weak transcription	Brain Substantia Nigra	brain
28	chr11:63713400-63721200	Weak transcription	Stomach Mucosa	stomach
29	chr11:63713400-63721600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:63713400-63721600	Weak transcription	Ovary	ovary
31	chr11:63713400-63724200	Strong transcription	K562	blood
32	chr11:63713400-63725200	Strong transcription	Fetal Intestine Small	intestine
33	chr11:63713400-63725400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:63713400-63725800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:63713400-63726200	Strong transcription	Fetal Stomach	stomach
36	chr11:63713400-63726800	Weak transcription	Fetal Brain Male	brain
37	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
38	chr11:63713600-63717200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:63713600-63717400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:63713600-63717800	Weak transcription	HSMMtube	muscle
41	chr11:63713600-63718000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:63713600-63718200	Strong transcription	Fetal Thymus	thymus
43	chr11:63713600-63718600	Strong transcription	Fetal Intestine Large	intestine
44	chr11:63713600-63718600	Strong transcription	Placenta	Placenta
45	chr11:63713600-63719600	Weak transcription	Colonic Mucosa	Colon
46	chr11:63713600-63719600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:63713600-63719800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:63713600-63719800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:63713600-63719800	Weak transcription	HSMM	muscle
50	chr11:63713600-63723000	Weak transcription	Fetal Heart	heart

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