Variant report

Variant	rs55873932
Chromosome Location	chr1:159797474-159797475
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	ZNF384	chr1:159797425-159797799	GM12878	blood:	n/a	n/a
2	MEF2A	chr1:159797432-159797716	GM12878	blood:	n/a	n/a
3	RUNX3	chr1:159797321-159797678	GM12878	blood:	n/a	n/a
4	MAX	chr1:159797369-159797674	GM12878	blood:	n/a	n/a

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
SLAMF8	TF binding region
ENSG00000158714	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16842675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56010909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57971988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59322471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60602471	1.00[AMR][1000 genomes]
rs60975039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124719	1.00[AMR][1000 genomes]
rs74124720	1.00[AMR][1000 genomes]
rs74124724	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: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	chr1:159794600-159801000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:159794800-159798200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:159794800-159798600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:159794800-159798800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:159795000-159798400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:159795000-159799200	Enhancers	Primary T cells from cord blood	blood
12	chr1:159795200-159798200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:159795200-159800200	Enhancers	Spleen	Spleen
14	chr1:159795400-159797600	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:159795400-159798400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:159795400-159807200	Weak transcription	Brain Substantia Nigra	brain
17	chr1:159795600-159797600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:159795600-159798400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:159795600-159799000	Enhancers	Primary B cells from cord blood	blood
20	chr1:159795600-159799200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:159795800-159798200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:159796000-159799600	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:159796200-159799200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:159796200-159805000	Weak transcription	Left Ventricle	heart
25	chr1:159796400-159804600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:159796600-159798000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:159796600-159798000	Enhancers	GM12878-XiMat	blood
28	chr1:159796600-159799400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:159796600-159799600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:159796600-159803000	Enhancers	HSMMtube	muscle
31	chr1:159796800-159798000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:159796800-159798000	Weak transcription	HSMM	muscle
33	chr1:159796800-159798200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:159796800-159798200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:159796800-159799200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:159796800-159799800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:159797000-159799800	Weak transcription	NH-A	brain
38	chr1:159797200-159797600	Weak transcription	Brain Anterior Caudate	brain
39	chr1:159797200-159798000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:159797200-159798200	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:159797200-159798600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:159797200-159799000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:159797200-159799600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:159797200-159800400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:159797200-159813400	Weak transcription	Right Atrium	heart
46	chr1:159797200-159824000	Weak transcription	Gastric	stomach
47	chr1:159797400-159797600	Active TSS	Brain Hippocampus Middle	brain
48	chr1:159797400-159797600	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:159797400-159797800	Enhancers	Fetal Thymus	thymus
50	chr1:159797400-159798000	Weak transcription	Fetal Muscle Trunk	muscle

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