Variant report

Variant	rs11949777
Chromosome Location	chr5:94923642-94923643
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94889284..94894325-chr5:94922703..94926825,4	K562	blood:

Variant related genes	Relation type
ENSG00000164291	Chromatin interaction
ENSG00000198677	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11951564	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];1.00[AMR][1000 genomes]
rs11958573	1.00[AMR][1000 genomes]
rs17084844	0.89[AFR][1000 genomes]
rs17084856	0.84[AFR][1000 genomes]
rs17084871	0.84[AFR][1000 genomes]
rs17084888	0.83[AFR][1000 genomes]
rs17084908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084925	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2881774	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4645348	1.00[YRI][hapmap]
rs56742088	0.83[AFR][1000 genomes]
rs57414975	1.00[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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60632886	0.89[AFR][1000 genomes]
rs73147905	0.94[AFR][1000 genomes]
rs73147915	0.94[AFR][1000 genomes]
rs73147917	0.94[AFR][1000 genomes]
rs73147919	0.94[AFR][1000 genomes]
rs73147928	0.84[AFR][1000 genomes]
rs73147929	0.94[AFR][1000 genomes]
rs73147938	0.89[AFR][1000 genomes]
rs73147967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147968	0.89[AFR][1000 genomes]
rs73147970	0.83[AFR][1000 genomes]
rs7703196	1.00[AMR][1000 genomes]
rs7708692	0.94[AFR][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	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	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94892200-94934400	Weak transcription	Fetal Stomach	stomach
2	chr5:94892200-94936600	Weak transcription	Fetal Lung	lung
3	chr5:94892400-94926000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:94892400-94926200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:94892400-94926200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:94892400-94926200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:94892400-94926600	Weak transcription	NH-A	brain
8	chr5:94892400-94937200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:94898200-94926000	Weak transcription	Thymus	Thymus
10	chr5:94900400-94942400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:94901600-94926400	Weak transcription	HUVEC	blood vessel
12	chr5:94902000-94925800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:94902000-94936600	Weak transcription	HSMMtube	muscle
14	chr5:94903600-94925800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:94904000-94926800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:94904600-94926200	Weak transcription	GM12878-XiMat	blood
17	chr5:94904600-94936600	Weak transcription	Adipose Nuclei	Adipose
18	chr5:94904600-94939400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:94904800-94926400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr5:94904800-94926600	Weak transcription	Left Ventricle	heart
21	chr5:94904800-94931600	Weak transcription	Liver	Liver
22	chr5:94905000-94925800	Weak transcription	Dnd41	blood
23	chr5:94905000-94926000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:94905000-94936600	Weak transcription	Fetal Intestine Large	intestine
25	chr5:94905000-94936600	Weak transcription	Ovary	ovary
26	chr5:94905000-94936800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:94905000-94936800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:94905000-94939200	Weak transcription	Aorta	Aorta
29	chr5:94905000-94940600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:94905200-94926400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:94905400-94925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:94905400-94926400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:94905600-94925800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:94906200-94926000	Weak transcription	Fetal Thymus	thymus
35	chr5:94906400-94936800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:94908200-94925800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:94908200-94926000	Weak transcription	Osteobl	bone
38	chr5:94908800-94926000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:94909800-94935800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:94911000-94927200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:94912800-94926200	Weak transcription	Primary T cells from cord blood	blood
42	chr5:94912800-94943400	Weak transcription	Fetal Intestine Small	intestine
43	chr5:94915000-94939000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:94917400-94940800	Weak transcription	Fetal Brain Male	brain
45	chr5:94918600-94926600	Weak transcription	HSMM	muscle
46	chr5:94919200-94926400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:94920000-94931600	Weak transcription	Fetal Heart	heart
48	chr5:94920200-94926400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:94920200-94926400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:94920200-94927400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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