Variant report

Variant	rs61533703
Chromosome Location	chr1:192541148-192541149
allele	A/C
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	GATA3	chr1:192540710-192541525	SK-N-SH	brain:	n/a	chr1:192541049-192541056 chr1:192541312-192541321 chr1:192541042-192541063 chr1:192541310-192541323 chr1:192541045-192541061 chr1:192541309-192541319 chr1:192541312-192541319 chr1:192541049-192541056 chr1:192541048-192541056 chr1:192541049-192541056
2	GATA3	chr1:192540716-192541245	SK-N-SH	brain:	n/a	chr1:192541049-192541056 chr1:192541042-192541063 chr1:192541045-192541061 chr1:192541049-192541056 chr1:192541048-192541056 chr1:192541049-192541056

Variant related genes	Relation type
ENSG00000232498	TF binding region
RGS1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4658068	1.00[AMR][1000 genomes]
rs74130673	1.00[AMR][1000 genomes]
rs74130675	1.00[AMR][1000 genomes]
rs74130676	1.00[AMR][1000 genomes]
rs7547089	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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192529800-192542600	Weak transcription	HSMMtube	muscle
2	chr1:192531000-192541400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:192537200-192548400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:192539200-192543000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:192539600-192541400	Weak transcription	Fetal Thymus	thymus
6	chr1:192539600-192544800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:192539600-192544800	Weak transcription	Thymus	Thymus
8	chr1:192540200-192544400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:192540200-192544400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:192540200-192544600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr1:192540200-192544800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:192540200-192544800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:192540200-192544800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:192540400-192542000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:192540400-192544200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:192540600-192542000	Enhancers	Primary T cells from cord blood	blood
17	chr1:192540800-192541200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:192540800-192541400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:192540800-192541800	Flanking Active TSS	Dnd41	blood
20	chr1:192540800-192543000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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