Variant report

Variant	rs58306239
Chromosome Location	chr11:64873972-64873973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64860579..64868255-chr11:64873377..64881831,25	K562	blood:
2	chr11:64856037..64857777-chr11:64872015..64873984,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNHIT2-2	chr11:64872605-64874222	ENSG00000250832

Variant related genes	Relation type
ENSG00000187066	Chromatin interaction
ENSG00000149823	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11819994	1.00[EUR][1000 genomes]
rs11824823	1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs11826724	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828131	1.00[EUR][1000 genomes]
rs17145206	1.00[EUR][1000 genomes]
rs17146681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17882241	1.00[EUR][1000 genomes]
rs17883601	1.00[EUR][1000 genomes]
rs17884528	1.00[EUR][1000 genomes]
rs17885792	1.00[EUR][1000 genomes]
rs17886339	1.00[EUR][1000 genomes]
rs57292990	1.00[EUR][1000 genomes]
rs57895567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57983247	1.00[EUR][1000 genomes]
rs58009266	1.00[EUR][1000 genomes]
rs60034183	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60169759	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61136517	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61202604	1.00[EUR][1000 genomes]
rs61231480	1.00[EUR][1000 genomes]
rs61746813	1.00[EUR][1000 genomes]
rs73474770	1.00[EUR][1000 genomes]
rs73474771	1.00[EUR][1000 genomes]
rs73474781	1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73477209	1.00[EUR][1000 genomes]
rs73477214	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477217	1.00[AMR][1000 genomes]
rs73477223	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477224	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477233	1.00[EUR][1000 genomes]
rs73477237	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73480916	1.00[EUR][1000 genomes]
rs73480917	1.00[EUR][1000 genomes]
rs73480936	1.00[EUR][1000 genomes]
rs73480948	1.00[EUR][1000 genomes]
rs73481122	1.00[EUR][1000 genomes]
rs73495050	1.00[EUR][1000 genomes]
rs73495054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73495060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769438	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv897712	chr11:64856695-64882789	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64864200-64879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64864400-64874600	Weak transcription	Aorta	Aorta
3	chr11:64864400-64878000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64864600-64874600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:64864600-64876400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:64864800-64875000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:64864800-64875000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:64864800-64875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:64864800-64876000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:64864800-64876200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:64864800-64876400	Weak transcription	A549	lung
12	chr11:64864800-64878200	Weak transcription	NHDF-Ad	bronchial
13	chr11:64864800-64878600	Weak transcription	Small Intestine	intestine
14	chr11:64864800-64879400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:64865000-64874400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:64865000-64874400	Weak transcription	Colonic Mucosa	Colon
17	chr11:64865000-64875200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:64865000-64875600	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:64865000-64876200	Weak transcription	Fetal Lung	lung
20	chr11:64865000-64878000	Strong transcription	Fetal Intestine Small	intestine
21	chr11:64865000-64879000	Weak transcription	Fetal Kidney	kidney
22	chr11:64865200-64877800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:64865400-64877600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:64865600-64877000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr11:64866000-64877400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:64866200-64874800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:64866200-64874800	Weak transcription	Brain Germinal Matrix	brain
28	chr11:64866200-64875200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:64866200-64876200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:64866200-64877600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:64866200-64878000	Weak transcription	Fetal Brain Male	brain
32	chr11:64866200-64878000	Weak transcription	HMEC	breast
33	chr11:64866400-64877600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:64866400-64878000	Weak transcription	K562	blood
35	chr11:64866600-64874600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:64866800-64874400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:64866800-64877800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:64866800-64878000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:64866800-64878000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:64867000-64875000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:64867200-64874600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:64868200-64875400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:64868800-64874800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:64868800-64876800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:64868800-64877600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:64868800-64877600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:64869000-64877800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:64869200-64874800	Enhancers	Ovary	ovary
49	chr11:64869400-64874400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:64869400-64877800	Weak transcription	Primary B cells from cord blood	blood

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