Variant report

Variant	rs57219930
Chromosome Location	chr11:63653525-63653526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63644143..63645756-chr11:63650897..63653554,2	MCF-7	breast:
2	chr11:63639315..63642041-chr11:63653506..63655587,2	K562	blood:
3	chr11:63653210..63656003-chr11:63665435..63667701,2	MCF-7	breast:
4	chr11:63651375..63653899-chr11:63656306..63658749,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10897460	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231632	1.00[EUR][1000 genomes]
rs11231634	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271959	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277386	1.00[EUR][1000 genomes]
rs12277838	1.00[EUR][1000 genomes]
rs12288290	1.00[EUR][1000 genomes]
rs12291042	1.00[EUR][1000 genomes]
rs12295918	1.00[EUR][1000 genomes]
rs13377315	1.00[EUR][1000 genomes]
rs1392118	0.91[ASN][1000 genomes]
rs320110	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs320115	1.00[ASN][1000 genomes]
rs57864399	1.00[EUR][1000 genomes]
rs58678024	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59423787	1.00[EUR][1000 genomes]
rs59642000	1.00[EUR][1000 genomes]
rs60107756	1.00[EUR][1000 genomes]
rs60791209	0.91[ASN][1000 genomes]
rs61141225	0.91[ASN][1000 genomes]
rs61475860	1.00[EUR][1000 genomes]
rs7110433	1.00[EUR][1000 genomes]
rs73494120	1.00[ASN][1000 genomes]
rs7929867	1.00[EUR][1000 genomes]
rs7933899	1.00[EUR][1000 genomes]
rs7948681	1.00[EUR][1000 genomes]
rs7952003	1.00[EUR][1000 genomes]
rs9630214	1.00[EUR][1000 genomes]
rs9630215	1.00[EUR][1000 genomes]
rs9888136	1.00[EUR][1000 genomes]
rs9888177	1.00[EUR][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63641000-63654800	Weak transcription	HepG2	liver
2	chr11:63642200-63654800	Weak transcription	Fetal Lung	lung
3	chr11:63642400-63654400	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:63642400-63655000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:63643600-63655800	Weak transcription	Aorta	Aorta
6	chr11:63644600-63655200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:63645800-63654600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:63647600-63654200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:63647600-63654400	Weak transcription	Liver	Liver
10	chr11:63648000-63654200	Weak transcription	A549	lung
11	chr11:63648000-63654400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:63648200-63653800	Weak transcription	K562	blood
13	chr11:63648200-63654400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:63648200-63654600	Weak transcription	HMEC	breast
15	chr11:63648200-63654800	Weak transcription	NHEK	skin
16	chr11:63648400-63654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:63648400-63654400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:63648400-63654400	Weak transcription	Small Intestine	intestine
19	chr11:63648400-63654600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:63648400-63654600	Weak transcription	Osteobl	bone
21	chr11:63648400-63654800	Weak transcription	HSMM	muscle
22	chr11:63648400-63655000	Weak transcription	Hela-S3	cervix
23	chr11:63648400-63655000	Weak transcription	NH-A	brain
24	chr11:63648400-63655200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:63648600-63655000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:63649200-63654400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:63650400-63653800	Strong transcription	Fetal Stomach	stomach
28	chr11:63650600-63654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:63650600-63655600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:63650800-63653800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:63650800-63653800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:63650800-63654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:63650800-63654400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:63650800-63654600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:63650800-63654600	Weak transcription	Gastric	stomach
36	chr11:63650800-63654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:63650800-63654800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:63650800-63654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:63650800-63654800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:63650800-63655000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:63650800-63656000	Weak transcription	Brain Germinal Matrix	brain
42	chr11:63650800-63657600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:63651000-63654400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:63651000-63654400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:63651000-63654400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:63651200-63654800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:63651200-63655600	Genic enhancers	Fetal Intestine Small	intestine
48	chr11:63651600-63653800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:63651600-63654400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:63651600-63654400	Weak transcription	Spleen	Spleen

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