Variant report

Variant	rs2494511
Chromosome Location	chr1:159796512-159796513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr1:159796335-159796617	GM12878	blood:	n/a	n/a
2	MTA3	chr1:159796118-159796820	GM12878	blood:	n/a	n/a
3	MXI1	chr1:159796277-159796590	GM12878	blood:	n/a	n/a
4	NFIC	chr1:159796214-159796640	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:159796146-159796654	HL-60	blood:	n/a	n/a
6	RCOR1	chr1:159796251-159796541	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:159796258-159796740	GM12878	blood:	n/a	n/a
8	EP300	chr1:159796250-159796585	GM12878	blood:	n/a	n/a
9	RELA	chr1:159796235-159796712	GM18505	blood:	n/a	chr1:159796587-159796596 chr1:159796587-159796596
10	MYC	chr1:159796224-159796789	NB4	blood:	n/a	chr1:159796432-159796439 chr1:159796430-159796439 chr1:159796445-159796455
11	BATF	chr1:159796333-159796703	GM12878	blood:	n/a	chr1:159796555-159796566 chr1:159796556-159796566
12	RUNX3	chr1:159795920-159796764	GM12878	blood:	n/a	n/a
13	RUNX3	chr1:159796184-159796596	GM12878	blood:	n/a	n/a
14	EP300	chr1:159796207-159796655	GM12878	blood:	n/a	n/a
15	IKZF1	chr1:159796259-159796710	GM12878	blood:	n/a	n/a
16	ETS1	chr1:159796275-159796598	GM12878	blood:	n/a	chr1:159796545-159796560 chr1:159796400-159796411 chr1:159796399-159796413
17	MAX	chr1:159796224-159796620	K562	blood:	n/a	chr1:159796432-159796439 chr1:159796430-159796439 chr1:159796445-159796455
18	MAX	chr1:159796037-159796753	NB4	blood:	n/a	chr1:159796432-159796439 chr1:159796430-159796439 chr1:159796445-159796455
19	MAX	chr1:159796195-159796619	GM12878	blood:	n/a	chr1:159796432-159796439 chr1:159796430-159796439 chr1:159796445-159796455
20	RELA	chr1:159796255-159796742	GM12891	blood:	n/a	chr1:159796587-159796596 chr1:159796587-159796596
21	MAX	chr1:159796244-159796718	GM12878	blood:	n/a	chr1:159796432-159796439 chr1:159796430-159796439 chr1:159796445-159796455

Variant related genes	Relation type
SLAMF8	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2494514	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159791000-159796600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:159792400-159796600	Enhancers	Placenta	Placenta
3	chr1:159793000-159799000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr1:159793400-159799800	Weak transcription	Lung	lung
5	chr1:159793600-159797000	Weak transcription	Gastric	stomach
6	chr1:159793800-159796800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:159793800-159798800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:159794000-159807400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:159794200-159804600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:159794600-159797200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:159794600-159801000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:159794800-159796600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr1:159794800-159796800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:159794800-159797200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:159794800-159798200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:159794800-159798600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:159794800-159798800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:159795000-159798400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:159795000-159799200	Enhancers	Primary T cells from cord blood	blood
20	chr1:159795200-159796800	Enhancers	Fetal Thymus	thymus
21	chr1:159795200-159797200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:159795200-159797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:159795200-159797400	Enhancers	Small Intestine	intestine
24	chr1:159795200-159797400	Enhancers	Thymus	Thymus
25	chr1:159795200-159798200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:159795200-159800200	Enhancers	Spleen	Spleen
27	chr1:159795400-159796600	Weak transcription	HSMMtube	muscle
28	chr1:159795400-159797400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:159795400-159797600	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:159795400-159798400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:159795400-159807200	Weak transcription	Brain Substantia Nigra	brain
32	chr1:159795600-159796800	Enhancers	Dnd41	blood
33	chr1:159795600-159797600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:159795600-159798400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:159795600-159799000	Enhancers	Primary B cells from cord blood	blood
36	chr1:159795600-159799200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:159795800-159797000	Enhancers	Adipose Nuclei	Adipose
38	chr1:159795800-159798200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr1:159796000-159796600	Flanking Active TSS	GM12878-XiMat	blood
40	chr1:159796000-159796800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr1:159796000-159797200	Enhancers	Fetal Muscle Leg	muscle
42	chr1:159796000-159797200	Enhancers	Right Atrium	heart
43	chr1:159796000-159797400	Enhancers	Esophagus	oesophagus
44	chr1:159796000-159799600	Enhancers	Primary B cells from peripheral blood	blood
45	chr1:159796200-159796600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr1:159796200-159796600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr1:159796200-159796800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:159796200-159796800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:159796200-159797400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:159796200-159799200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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