Variant report

Variant	rs59319338
Chromosome Location	chr11:46376953-46376954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46376547..46378130-chr11:46558435..46561051,3	K562	blood:
2	chr11:46339591..46341538-chr11:46374275..46376969,2	K562	blood:
3	chr11:46376342..46379240-chr11:46384456..46386929,2	MCF-7	breast:
4	chr11:46375320..46378130-chr11:46558435..46561051,3	K562	blood:
5	chr11:46367270..46371299-chr11:46374022..46379881,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10160701	0.92[EUR][1000 genomes]
rs10838602	0.93[EUR][1000 genomes]
rs11038864	0.82[AFR][1000 genomes]
rs11038897	0.95[EUR][1000 genomes]
rs11038900	0.94[EUR][1000 genomes]
rs11038906	0.93[EUR][1000 genomes]
rs11038914	0.92[EUR][1000 genomes]
rs11038919	0.93[EUR][1000 genomes]
rs11038927	0.91[EUR][1000 genomes]
rs11819869	0.92[EUR][1000 genomes]
rs12272795	0.89[EUR][1000 genomes]
rs12283172	0.97[EUR][1000 genomes]
rs12292425	0.89[EUR][1000 genomes]
rs12295266	0.90[EUR][1000 genomes]
rs12573978	0.97[EUR][1000 genomes]
rs12574250	0.94[EUR][1000 genomes]
rs12574668	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12575519	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576115	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576317	0.97[EUR][1000 genomes]
rs12576359	0.93[EUR][1000 genomes]
rs12577142	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578042	0.94[EUR][1000 genomes]
rs1472001	0.95[EUR][1000 genomes]
rs1489192	0.94[EUR][1000 genomes]
rs16938506	0.95[EUR][1000 genomes]
rs2046768	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067482	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2171667	0.95[EUR][1000 genomes]
rs2171668	0.95[EUR][1000 genomes]
rs2279465	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291487	0.97[EUR][1000 genomes]
rs2864072	0.97[EUR][1000 genomes]
rs2864076	0.95[EUR][1000 genomes]
rs2902858	0.94[EUR][1000 genomes]
rs34406563	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35324223	0.83[EUR][1000 genomes]
rs35623865	0.88[EUR][1000 genomes]
rs3740974	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740977	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802888	0.94[EUR][1000 genomes]
rs3809047	0.97[ASN][1000 genomes]
rs55657382	0.88[EUR][1000 genomes]
rs55661562	0.88[EUR][1000 genomes]
rs57535407	0.97[EUR][1000 genomes]
rs58147945	0.94[EUR][1000 genomes]
rs60722866	0.86[EUR][1000 genomes]
rs60932698	0.86[EUR][1000 genomes]
rs61882674	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61882678	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882682	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882683	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882691	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61882701	0.97[EUR][1000 genomes]
rs61882702	0.97[EUR][1000 genomes]
rs61882706	0.96[EUR][1000 genomes]
rs61882709	0.95[EUR][1000 genomes]
rs61882710	0.97[EUR][1000 genomes]
rs61882711	0.97[EUR][1000 genomes]
rs61882712	0.95[EUR][1000 genomes]
rs61882720	0.93[EUR][1000 genomes]
rs61882743	0.91[EUR][1000 genomes]
rs61882746	0.94[EUR][1000 genomes]
rs61882748	0.97[EUR][1000 genomes]
rs61882750	0.94[EUR][1000 genomes]
rs61882756	0.88[EUR][1000 genomes]
rs61882757	0.90[EUR][1000 genomes]
rs61882758	0.90[EUR][1000 genomes]
rs61884262	0.82[EUR][1000 genomes]
rs61884264	0.88[EUR][1000 genomes]
rs61884271	0.86[EUR][1000 genomes]
rs6485682	0.95[EUR][1000 genomes]
rs6485685	0.88[EUR][1000 genomes]
rs7108770	0.86[EUR][1000 genomes]
rs7112229	0.95[EUR][1000 genomes]
rs7122039	0.89[EUR][1000 genomes]
rs7125907	0.89[EUR][1000 genomes]
rs7127529	0.94[EUR][1000 genomes]
rs7128092	0.84[EUR][1000 genomes]
rs7130141	0.94[EUR][1000 genomes]
rs73449983	0.90[EUR][1000 genomes]
rs7481312	0.92[EUR][1000 genomes]
rs7484002	0.88[EUR][1000 genomes]
rs7924401	0.89[EUR][1000 genomes]
rs7930103	0.95[EUR][1000 genomes]
rs7932866	0.83[EUR][1000 genomes]
rs7936413	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946705	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7951579	0.95[EUR][1000 genomes]
rs7951870	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs876701	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46370000-46384000	Weak transcription	Fetal Kidney	kidney
2	chr11:46370000-46395800	Weak transcription	Aorta	Aorta
3	chr11:46370400-46382400	Weak transcription	Psoas Muscle	Psoas
4	chr11:46370400-46384000	Weak transcription	A549	lung
5	chr11:46370600-46382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:46370800-46378200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:46370800-46382400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:46370800-46382600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:46370800-46382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:46371000-46378400	Genic enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:46371000-46382400	Weak transcription	HSMMtube	muscle
12	chr11:46371000-46382400	Weak transcription	HUVEC	blood vessel
13	chr11:46371200-46377800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:46371200-46378200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:46371400-46380200	Genic enhancers	Fetal Thymus	thymus
16	chr11:46371400-46382400	Weak transcription	NH-A	brain
17	chr11:46372600-46378400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:46372600-46381600	Weak transcription	Hela-S3	cervix
19	chr11:46372800-46377200	Genic enhancers	Fetal Stomach	stomach
20	chr11:46373400-46378600	Weak transcription	Small Intestine	intestine
21	chr11:46373800-46378200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:46373800-46382600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:46374000-46382400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:46374000-46382400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:46374200-46378000	Weak transcription	Primary B cells from cord blood	blood
26	chr11:46374200-46378000	Weak transcription	NHDF-Ad	bronchial
27	chr11:46374200-46378600	Weak transcription	Colonic Mucosa	Colon
28	chr11:46374200-46382600	Weak transcription	Fetal Intestine Large	intestine
29	chr11:46374200-46384400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:46374400-46377600	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:46374400-46377600	Weak transcription	Placenta	Placenta
32	chr11:46374400-46377800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr11:46374400-46377800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:46374400-46379200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:46374400-46379600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:46374400-46389600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:46374400-46389600	Weak transcription	Fetal Brain Female	brain
38	chr11:46374600-46377800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:46374600-46378200	Weak transcription	Stomach Mucosa	stomach
40	chr11:46374600-46378800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:46374600-46379000	Weak transcription	Right Atrium	heart
42	chr11:46374600-46379000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:46374600-46380000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:46374600-46382400	Weak transcription	Liver	Liver
45	chr11:46374600-46382600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:46374800-46377800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr11:46374800-46380000	Genic enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:46375000-46377400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:46375000-46377800	Weak transcription	K562	blood
50	chr11:46375000-46382400	Weak transcription	Fetal Heart	heart

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