Variant report

Variant	rs12576275
Chromosome Location	chr11:63632441-63632442
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63607750..63611534-chr11:63627673..63634127,5	MCF-7	breast:
2	chr11:63628759..63635867-chr11:63636847..63643133,8	K562	blood:
3	chr11:63628257..63633019-chr11:63633939..63639801,7	MCF-7	breast:
4	chr11:63630927..63632567-chr11:63633500..63636233,2	MCF-7	breast:
5	chr11:63631966..63634780-chr11:63636847..63639729,3	K562	blood:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10736731	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10751001	0.90[ASN][1000 genomes]
rs10792421	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792422	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792423	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10897452	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10897453	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10897454	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11231600	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11231606	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11231624	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11231628	0.92[ASN][1000 genomes]
rs11231637	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11231640	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11605500	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12277481	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1486936	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1872772	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2840079	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs320109	0.91[EUR][1000 genomes]
rs3802941	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3850943	0.90[ASN][1000 genomes]
rs4143327	0.91[EUR][1000 genomes]
rs4963433	0.90[ASN][1000 genomes]
rs4980503	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4980505	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980507	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980528	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4980529	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4980532	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4980533	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61604723	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6421686	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591825	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7102006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7105288	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7108375	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7110843	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118913	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7121067	0.85[EUR][1000 genomes]
rs72934134	0.83[AFR][1000 genomes]
rs7937314	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939351	0.85[EUR][1000 genomes]
rs7939416	0.85[ASN][1000 genomes]
rs7944519	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946503	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7948656	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs923247	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs928948	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63610200-63633200	Weak transcription	Fetal Brain Male	brain
2	chr11:63613200-63633000	Weak transcription	HSMM	muscle
3	chr11:63615800-63633200	Weak transcription	HMEC	breast
4	chr11:63615800-63634800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:63615800-63636000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:63615800-63636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:63615800-63636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:63619000-63632600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:63619400-63639400	Weak transcription	Ovary	ovary
11	chr11:63619600-63633000	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:63619600-63633000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:63619600-63634000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:63619600-63636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:63619600-63636000	Weak transcription	HSMMtube	muscle
16	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:63622800-63633000	Weak transcription	Fetal Lung	lung
18	chr11:63626400-63633000	Weak transcription	Fetal Heart	heart
19	chr11:63626400-63637800	Weak transcription	NH-A	brain
20	chr11:63626800-63632800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:63626800-63633000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:63626800-63633200	Strong transcription	Fetal Stomach	stomach
23	chr11:63626800-63636000	Weak transcription	Psoas Muscle	Psoas
24	chr11:63627000-63633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:63627200-63633000	Weak transcription	Right Atrium	heart
26	chr11:63627400-63632600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:63627400-63634400	Weak transcription	Right Ventricle	heart
28	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
29	chr11:63629000-63633200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr11:63629000-63633200	Strong transcription	Fetal Muscle Leg	muscle
31	chr11:63629600-63632600	Strong transcription	Left Ventricle	heart
32	chr11:63629600-63638800	Enhancers	Stomach Mucosa	stomach
33	chr11:63629800-63634200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr11:63629800-63635600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr11:63629800-63636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:63630000-63633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:63630000-63633200	Weak transcription	NHEK	skin
38	chr11:63630000-63633400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:63630200-63636800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:63630400-63633200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:63630600-63632800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:63630600-63633000	Weak transcription	Colonic Mucosa	Colon
44	chr11:63630600-63636000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:63630600-63636000	Weak transcription	NHDF-Ad	bronchial
46	chr11:63630600-63642200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr11:63630800-63632600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:63630800-63632600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr11:63630800-63632600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:63630800-63632600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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