Variant report

Variant	rs11738269
Chromosome Location	chr5:179209059-179209060
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179206337..179209276-chr5:179211151..179214245,3	K562	blood:
2	chr5:179207473..179209466-chr5:179245089..179247994,2	MCF-7	breast:
3	chr5:179208821..179211974-chr5:179218731..179221222,3	MCF-7	breast:
4	chr5:179207715..179210288-chr5:179217795..179219761,2	MCF-7	breast:
5	chr5:179201375..179203959-chr5:179207512..179210271,2	MCF-7	breast:
6	chr5:179207543..179209811-chr5:179227923..179230897,2	MCF-7	breast:
7	chr5:179207814..179210287-chr5:179215624..179217168,2	MCF-7	breast:
8	chr5:179208668..179210975-chr5:179221347..179223375,2	MCF-7	breast:
9	chr5:179208245..179209901-chr5:179214926..179216675,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161011	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000161013	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11738720	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11739042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740569	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11741570	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743232	0.84[ASN][1000 genomes]
rs11744616	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746924	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11747496	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12522263	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1469020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1469021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17617068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17617710	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34057110	0.88[ASN][1000 genomes]
rs3756614	0.94[ASN][1000 genomes]
rs3797762	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41458244	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4700838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700840	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55654737	0.97[ASN][1000 genomes]
rs55827522	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55975622	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56309143	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56335144	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58386410	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62404347	0.86[ASN][1000 genomes]
rs62406176	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62406177	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62406178	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62406181	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62406187	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406219	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62406223	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62406228	0.82[AMR][1000 genomes]
rs6601067	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6601072	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6639	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6860716	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6887507	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893300	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6895902	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807339	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs730012	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7444006	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7447159	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7704520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709723	0.81[CHB][hapmap];0.93[CHD][hapmap]
rs7715356	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs7734102	1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7735702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv518964	chr5:179193598-179227286	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
7	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 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	chr5:179191200-179210400	Strong transcription	Thymus	Thymus
2	chr5:179192200-179210400	Strong transcription	Brain Germinal Matrix	brain
3	chr5:179192600-179209800	Strong transcription	Primary T cells from cord blood	blood
4	chr5:179192800-179209800	Strong transcription	Fetal Brain Female	brain
5	chr5:179193000-179210400	Strong transcription	Fetal Stomach	stomach
6	chr5:179193600-179209600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:179193800-179209400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:179193800-179209600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:179194600-179210400	Strong transcription	Fetal Intestine Small	intestine
10	chr5:179196000-179209800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:179196000-179210400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:179199800-179214000	Weak transcription	Fetal Brain Male	brain
13	chr5:179201400-179210400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:179201600-179209200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:179202000-179221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:179203400-179209200	Weak transcription	Hela-S3	cervix
17	chr5:179203400-179209400	Weak transcription	NHEK	skin
18	chr5:179203400-179211800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:179203400-179213400	Weak transcription	Psoas Muscle	Psoas
20	chr5:179203400-179218200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:179203400-179221600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:179203600-179209400	Weak transcription	K562	blood
23	chr5:179203600-179211600	Weak transcription	NHDF-Ad	bronchial
24	chr5:179203600-179219600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:179203600-179220400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:179203600-179222000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:179204000-179221200	Weak transcription	Small Intestine	intestine
28	chr5:179204600-179210400	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:179205000-179218800	Weak transcription	Right Atrium	heart
30	chr5:179205200-179210400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:179205200-179220600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:179205200-179221800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:179205400-179209400	Weak transcription	HUVEC	blood vessel
34	chr5:179205600-179209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:179206000-179210200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:179206000-179210400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:179206000-179211600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:179206000-179220200	Weak transcription	Ovary	ovary
39	chr5:179206200-179209600	Weak transcription	Fetal Kidney	kidney
40	chr5:179206400-179214600	Weak transcription	HepG2	liver
41	chr5:179206400-179219200	Weak transcription	Gastric	stomach
42	chr5:179207000-179210400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:179207000-179220200	Weak transcription	GM12878-XiMat	blood
44	chr5:179207200-179209200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr5:179207200-179209400	Weak transcription	Spleen	Spleen
46	chr5:179207200-179209600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:179207200-179210000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:179207200-179210800	Weak transcription	NHLF	lung
49	chr5:179207200-179215200	Weak transcription	HSMMtube	muscle
50	chr5:179207200-179218600	Weak transcription	Fetal Muscle Leg	muscle

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