Variant report

Variant	rs11951564
Chromosome Location	chr5:94904247-94904248
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	chr5:94889255..94892254-chr5:94902983..94905843,2	K562	blood:

Variant related genes	Relation type
ENSG00000198677	Chromatin interaction
ENSG00000164291	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11949777	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11951853	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11953259	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11958573	1.00[AMR][1000 genomes]
rs17084844	0.89[AFR][1000 genomes]
rs17084888	0.94[AFR][1000 genomes]
rs17084908	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084925	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2881774	1.00[YRI][hapmap]
rs4645348	1.00[YRI][hapmap]
rs56742088	0.83[AFR][1000 genomes]
rs57414975	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57520226	0.83[AFR][1000 genomes]
rs57901676	1.00[AMR][1000 genomes]
rs58364348	0.83[AFR][1000 genomes]
rs59601824	0.83[AFR][1000 genomes]
rs59728284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147905	0.83[AFR][1000 genomes]
rs73147915	0.83[AFR][1000 genomes]
rs73147917	0.83[AFR][1000 genomes]
rs73147919	0.83[AFR][1000 genomes]
rs73147929	0.83[AFR][1000 genomes]
rs73147967	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147970	0.83[AFR][1000 genomes]
rs7703196	1.00[AMR][1000 genomes]
rs7708692	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830408	chr5:94894032-94915995	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94892000-94906200	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:94892200-94904400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:94892200-94904400	Weak transcription	Aorta	Aorta
4	chr5:94892200-94906000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:94892200-94906800	Weak transcription	Fetal Kidney	kidney
6	chr5:94892200-94907200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:94892200-94907400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:94892200-94934400	Weak transcription	Fetal Stomach	stomach
9	chr5:94892200-94936600	Weak transcription	Fetal Lung	lung
10	chr5:94892400-94904400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:94892400-94904400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:94892400-94905600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:94892400-94905800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:94892400-94906000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:94892400-94906600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:94892400-94907600	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:94892400-94908800	Weak transcription	HepG2	liver
18	chr5:94892400-94910200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:94892400-94911200	Weak transcription	HMEC	breast
20	chr5:94892400-94921000	Weak transcription	Psoas Muscle	Psoas
21	chr5:94892400-94922400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:94892400-94926000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:94892400-94926200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:94892400-94926200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:94892400-94926200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:94892400-94926600	Weak transcription	NH-A	brain
27	chr5:94892400-94937200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:94892600-94907800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:94893000-94904400	Weak transcription	Dnd41	blood
30	chr5:94894000-94908400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:94894000-94919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:94898200-94926000	Weak transcription	Thymus	Thymus
33	chr5:94898400-94906600	Weak transcription	Brain Angular Gyrus	brain
34	chr5:94900200-94908000	Weak transcription	Placenta	Placenta
35	chr5:94900400-94910200	Weak transcription	Spleen	Spleen
36	chr5:94900400-94942400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:94900600-94904400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:94900600-94906400	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:94900600-94913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:94900600-94919600	Weak transcription	K562	blood
41	chr5:94900600-94921200	Weak transcription	Pancreas	Pancrea
42	chr5:94901000-94916400	Weak transcription	Fetal Brain Male	brain
43	chr5:94901400-94904400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:94901400-94906200	Strong transcription	Primary T cells from cord blood	blood
45	chr5:94901400-94910200	Weak transcription	HSMM	muscle
46	chr5:94901600-94904400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:94901600-94926400	Weak transcription	HUVEC	blood vessel
48	chr5:94901800-94909600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:94902000-94904800	Strong transcription	Liver	Liver
50	chr5:94902000-94905000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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