Variant report

Variant	rs57971988
Chromosome Location	chr1:159796090-159796091
allele	A/G
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	RUNX3	chr1:159795920-159796764	GM12878	blood:	n/a	n/a
2	MAX	chr1:159796037-159796753	NB4	blood:	n/a	chr1:159796432-159796439 chr1:159796430-159796439 chr1:159796445-159796455

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159794122..159796114-chr1:159799555..159801580,2	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]
rs55873932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56010909	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:57 , 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	chr1:159794400-159796200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:159794600-159797200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:159794600-159801000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:159794800-159796600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:159794800-159796800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:159794800-159797200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:159794800-159798200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:159794800-159798600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:159794800-159798800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:159795000-159796200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:159795000-159798400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:159795000-159799200	Enhancers	Primary T cells from cord blood	blood
22	chr1:159795200-159796800	Enhancers	Fetal Thymus	thymus
23	chr1:159795200-159797200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:159795200-159797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:159795200-159797400	Enhancers	Small Intestine	intestine
26	chr1:159795200-159797400	Enhancers	Thymus	Thymus
27	chr1:159795200-159798200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:159795200-159800200	Enhancers	Spleen	Spleen
29	chr1:159795400-159796400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:159795400-159796600	Weak transcription	HSMMtube	muscle
31	chr1:159795400-159797400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:159795400-159797600	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:159795400-159798400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:159795400-159807200	Weak transcription	Brain Substantia Nigra	brain
35	chr1:159795600-159796200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr1:159795600-159796800	Enhancers	Dnd41	blood
37	chr1:159795600-159797600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:159795600-159798400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:159795600-159799000	Enhancers	Primary B cells from cord blood	blood
40	chr1:159795600-159799200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:159795800-159796200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr1:159795800-159796200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:159795800-159796400	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr1:159795800-159797000	Enhancers	Adipose Nuclei	Adipose
45	chr1:159795800-159798200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:159796000-159796200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:159796000-159796200	Bivalent Enhancer	Brain Hippocampus Middle	brain
48	chr1:159796000-159796200	Enhancers	Left Ventricle	heart
49	chr1:159796000-159796400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:159796000-159796400	Enhancers	Colonic Mucosa	Colon

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