Variant report

Variant	rs7120462
Chromosome Location	chr11:19175230-19175231
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:19173396..19176209-chr11:19178466..19181065,2	K562	blood:
2	chr11:19162993..19165619-chr11:19174765..19176365,2	K562	blood:
3	chr11:19164352..19166068-chr11:19175004..19177125,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10500841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10500842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10741761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10766528	0.98[ASN][1000 genomes]
rs10833064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10833065	0.98[ASN][1000 genomes]
rs11025021	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11025025	0.97[ASN][1000 genomes]
rs11025026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11025037	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs11607797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12270581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs1393954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1393955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1503506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1503507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1875724	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2134622	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2271001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28891775	0.89[ASN][1000 genomes]
rs3758875	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3802796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3802797	0.98[ASN][1000 genomes]
rs4326774	0.83[ASN][1000 genomes]
rs4757757	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4757758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs4757759	0.98[ASN][1000 genomes]
rs4757760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs59393175	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7103110	0.96[ASN][1000 genomes]
rs7111105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7111919	0.89[AMR][1000 genomes]
rs7129212	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7129326	0.98[ASN][1000 genomes]
rs7934179	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7950603	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7950788	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19140000-19186400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:19140800-19186800	Weak transcription	Colonic Mucosa	Colon
3	chr11:19143400-19185800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:19143400-19186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:19143400-19201600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:19143600-19197400	Weak transcription	Small Intestine	intestine
7	chr11:19153200-19186600	Weak transcription	Aorta	Aorta
8	chr11:19154800-19177200	Weak transcription	NHEK	skin
9	chr11:19156400-19175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:19156600-19193200	Weak transcription	Fetal Stomach	stomach
11	chr11:19156800-19193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:19156800-19194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:19157200-19186200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:19161600-19194400	Weak transcription	HSMM	muscle
15	chr11:19162200-19176200	Weak transcription	Gastric	stomach
16	chr11:19162800-19203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:19163400-19178000	Weak transcription	Fetal Brain Female	brain
18	chr11:19164000-19200400	Weak transcription	Fetal Brain Male	brain
19	chr11:19164600-19177600	Weak transcription	Fetal Lung	lung
20	chr11:19166200-19186200	Weak transcription	Brain Anterior Caudate	brain
21	chr11:19166400-19203000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:19166800-19186400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:19167000-19194200	Weak transcription	Fetal Kidney	kidney
24	chr11:19167400-19176600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:19167400-19184800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:19167400-19186600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:19167400-19194200	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:19167600-19184200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:19167800-19176600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:19167800-19177000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr11:19167800-19181600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:19167800-19181800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:19167800-19199400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:19168000-19201600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:19168400-19176600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:19168400-19181400	Strong transcription	Dnd41	blood
37	chr11:19168400-19182200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:19168400-19184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:19168800-19185200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:19169000-19186800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:19169000-19189000	Weak transcription	Fetal Intestine Small	intestine
42	chr11:19169000-19194600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:19169200-19181600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:19169200-19185200	Weak transcription	K562	blood
45	chr11:19169400-19178600	Weak transcription	Liver	Liver
46	chr11:19169400-19197800	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:19169400-19200400	Weak transcription	Brain Angular Gyrus	brain
48	chr11:19169600-19186200	Weak transcription	HepG2	liver
49	chr11:19170000-19186200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:19170000-19200200	Strong transcription	Primary B cells from cord blood	blood

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