Variant report

Variant	rs2725810
Chromosome Location	chr11:77121628-77121629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77120352..77122369-chr11:77122949..77125194,2	K562	blood:
2	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149269	Chromatin interaction
ENSG00000268635	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10793246	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs10899363	1.00[YRI][hapmap]
rs10899364	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs10899365	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs10899369	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs10899376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899378	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899379	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs11237145	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs11237146	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs11237147	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs11237173	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11237189	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11237193	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11237195	0.94[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11237196	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11237199	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12271542	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12274255	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs12287216	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs12287680	0.83[JPT][hapmap]
rs1377470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1377471	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1453343	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1613357	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs1618188	0.83[JPT][hapmap]
rs1620915	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs1670451	0.83[JPT][hapmap]
rs1670452	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs1670453	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs1670460	1.00[YRI][hapmap]
rs17135625	0.91[ASN][1000 genomes]
rs1793466	1.00[YRI][hapmap]
rs1793488	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs1840151	0.97[EUR][1000 genomes]
rs1894214	0.83[JPT][hapmap]
rs1946005	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs2250639	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2250647	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2298793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602458	0.97[EUR][1000 genomes]
rs2602459	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602463	0.86[EUR][1000 genomes]
rs2602464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602465	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs2602468	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602469	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602470	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2602472	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs2602477	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602479	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602488	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602489	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2725815	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2725816	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2725826	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2725827	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2725830	0.97[EUR][1000 genomes]
rs2725831	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2725832	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2729747	0.94[EUR][1000 genomes]
rs2729753	0.82[EUR][1000 genomes]
rs2729762	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2729764	0.82[ASN][1000 genomes]
rs2729769	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2729771	0.86[EUR][1000 genomes]
rs2844328	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844332	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844333	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2844334	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844336	0.88[EUR][1000 genomes]
rs2844337	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2852384	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2852385	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2852392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2852394	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2853086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2853088	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853090	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2853096	1.00[YRI][hapmap]
rs2853103	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3018424	0.85[ASN][1000 genomes]
rs4590893	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56015509	1.00[AFR][1000 genomes]
rs7104166	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs7104295	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs7109645	0.80[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7119033	0.96[EUR][1000 genomes]
rs7121483	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs7938075	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs7943778	0.82[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9634031	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77103800-77122000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:77113800-77122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:77117200-77121800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:77117200-77122000	Weak transcription	Brain Anterior Caudate	brain
5	chr11:77117400-77122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:77117800-77122200	Weak transcription	Lung	lung
7	chr11:77118800-77122200	Weak transcription	Psoas Muscle	Psoas
8	chr11:77118800-77122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:77118800-77123600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:77119000-77122200	Weak transcription	Pancreas	Pancrea
11	chr11:77119200-77122000	Weak transcription	Fetal Lung	lung
12	chr11:77119200-77122000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:77119200-77122000	Weak transcription	HSMM	muscle
14	chr11:77119200-77122200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:77119200-77122200	Weak transcription	HSMMtube	muscle
16	chr11:77119200-77122400	Weak transcription	Ovary	ovary
17	chr11:77119200-77122400	Weak transcription	Right Atrium	heart
18	chr11:77119400-77122000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:77119400-77122000	Weak transcription	Fetal Kidney	kidney
20	chr11:77119400-77122000	Weak transcription	Stomach Mucosa	stomach
21	chr11:77119400-77122200	Weak transcription	Fetal Intestine Large	intestine
22	chr11:77119600-77121800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:77119600-77122000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:77119600-77122200	Weak transcription	Liver	Liver
25	chr11:77119800-77122200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:77120600-77122000	Enhancers	Adipose Nuclei	Adipose
27	chr11:77120800-77122400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr11:77120800-77123400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr11:77121000-77121800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:77121000-77122000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:77121000-77122000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr11:77121000-77122000	Enhancers	Fetal Thymus	thymus
33	chr11:77121000-77122200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:77121000-77122200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:77121000-77122200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr11:77121000-77122200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:77121000-77122200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:77121000-77122400	Enhancers	Gastric	stomach
39	chr11:77121000-77122600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr11:77121000-77122600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:77121000-77122600	Flanking Active TSS	Dnd41	blood
42	chr11:77121000-77123400	Active TSS	Brain Angular Gyrus	brain
43	chr11:77121200-77121800	Enhancers	Fetal Muscle Leg	muscle
44	chr11:77121200-77121800	Enhancers	Placenta	Placenta
45	chr11:77121200-77121800	Enhancers	NH-A	brain
46	chr11:77121200-77122000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:77121200-77122000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:77121200-77122000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr11:77121200-77122000	Enhancers	Colon Smooth Muscle	Colon
50	chr11:77121200-77122000	Enhancers	Fetal Brain Male	brain

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