Variant report

Variant	rs2494519
Chromosome Location	chr1:159797073-159797074
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	chr1:159796615..159798686-chr1:159801453..159803054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158714	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11265282	0.81[EUR][1000 genomes]
rs11585836	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11590961	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2494495	0.82[EUR][1000 genomes]
rs2501343	0.85[EUR][1000 genomes]
rs4443889	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4656851	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55650803	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57198275	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58024147	0.81[EUR][1000 genomes]
rs58240276	0.92[EUR][1000 genomes]
rs6656168	0.85[EUR][1000 genomes]
rs6656979	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6657365	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6659704	0.81[EUR][1000 genomes]
rs6672434	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6692290	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159793000-159799000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:159793400-159799800	Weak transcription	Lung	lung
3	chr1:159793800-159798800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:159794000-159807400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:159794200-159804600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:159794600-159797200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:159794600-159801000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:159794800-159797200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:159794800-159798200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:159794800-159798600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:159794800-159798800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:159795000-159798400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:159795000-159799200	Enhancers	Primary T cells from cord blood	blood
14	chr1:159795200-159797200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:159795200-159797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:159795200-159797400	Enhancers	Small Intestine	intestine
17	chr1:159795200-159797400	Enhancers	Thymus	Thymus
18	chr1:159795200-159798200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:159795200-159800200	Enhancers	Spleen	Spleen
20	chr1:159795400-159797400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:159795400-159797600	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:159795400-159798400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:159795400-159807200	Weak transcription	Brain Substantia Nigra	brain
24	chr1:159795600-159797600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:159795600-159798400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:159795600-159799000	Enhancers	Primary B cells from cord blood	blood
27	chr1:159795600-159799200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:159795800-159798200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:159796000-159797200	Enhancers	Fetal Muscle Leg	muscle
30	chr1:159796000-159797200	Enhancers	Right Atrium	heart
31	chr1:159796000-159797400	Enhancers	Esophagus	oesophagus
32	chr1:159796000-159799600	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:159796200-159797400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:159796200-159799200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:159796200-159805000	Weak transcription	Left Ventricle	heart
36	chr1:159796400-159804600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:159796600-159797200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:159796600-159797400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr1:159796600-159797400	Active TSS	Colonic Mucosa	Colon
40	chr1:159796600-159797400	Enhancers	Fetal Muscle Trunk	muscle
41	chr1:159796600-159797400	Flanking Active TSS	Placenta	Placenta
42	chr1:159796600-159798000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:159796600-159798000	Enhancers	GM12878-XiMat	blood
44	chr1:159796600-159799400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:159796600-159799600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:159796600-159803000	Enhancers	HSMMtube	muscle
47	chr1:159796800-159797200	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:159796800-159797400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr1:159796800-159797400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr1:159796800-159798000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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