Variant report

Variant	rs17084908
Chromosome Location	chr5:94907350-94907351
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	chr5:94907342..94909603-chr5:94913208..94915224,2	K562	blood:
2	chr5:94890271..94892404-chr5:94906433..94908089,2	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:31)

rs_ID	r²[population]
rs11949777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11951564	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11951853	0.83[AFR][1000 genomes]
rs11953259	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]
rs17084925	0.83[AFR][1000 genomes]
rs2881774	0.89[AFR][1000 genomes]
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: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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94892200-94907400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:94892200-94934400	Weak transcription	Fetal Stomach	stomach
3	chr5:94892200-94936600	Weak transcription	Fetal Lung	lung
4	chr5:94892400-94907600	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:94892400-94908800	Weak transcription	HepG2	liver
6	chr5:94892400-94910200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:94892400-94911200	Weak transcription	HMEC	breast
8	chr5:94892400-94921000	Weak transcription	Psoas Muscle	Psoas
9	chr5:94892400-94922400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:94892400-94926000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:94892400-94926200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:94892400-94926200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:94892400-94926200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:94892400-94926600	Weak transcription	NH-A	brain
15	chr5:94892400-94937200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:94892600-94907800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:94894000-94908400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:94894000-94919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:94898200-94926000	Weak transcription	Thymus	Thymus
20	chr5:94900200-94908000	Weak transcription	Placenta	Placenta
21	chr5:94900400-94910200	Weak transcription	Spleen	Spleen
22	chr5:94900400-94942400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:94900600-94913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:94900600-94919600	Weak transcription	K562	blood
25	chr5:94900600-94921200	Weak transcription	Pancreas	Pancrea
26	chr5:94901000-94916400	Weak transcription	Fetal Brain Male	brain
27	chr5:94901400-94910200	Weak transcription	HSMM	muscle
28	chr5:94901600-94926400	Weak transcription	HUVEC	blood vessel
29	chr5:94901800-94909600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:94902000-94925800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:94902000-94936600	Weak transcription	HSMMtube	muscle
32	chr5:94903200-94911800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:94903600-94908000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:94903600-94909400	Weak transcription	NHLF	lung
35	chr5:94903600-94925800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:94903800-94910000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:94904000-94926800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:94904200-94911800	Weak transcription	Fetal Intestine Small	intestine
39	chr5:94904200-94919600	Weak transcription	Fetal Heart	heart
40	chr5:94904600-94907600	Weak transcription	Osteobl	bone
41	chr5:94904600-94926200	Weak transcription	GM12878-XiMat	blood
42	chr5:94904600-94936600	Weak transcription	Adipose Nuclei	Adipose
43	chr5:94904600-94939400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:94904800-94908400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:94904800-94926400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:94904800-94926600	Weak transcription	Left Ventricle	heart
47	chr5:94904800-94931600	Weak transcription	Liver	Liver
48	chr5:94905000-94907400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:94905000-94908200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr5:94905000-94912600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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