Variant report

Variant	rs28744434
Chromosome Location	chr6:130896913-130896914
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	EBF1	chr6:130896900-130897779	GM12878	blood:	n/a	chr6:130897603-130897616 chr6:130897605-130897614
2	RUNX3	chr6:130896794-130897591	GM12878	blood:	n/a	n/a
3	CHD2	chr6:130896888-130897590	GM12878	blood:	n/a	n/a
4	TBP	chr6:130896901-130897584	GM12878	blood:	n/a	n/a
5	EP300	chr6:130896887-130897606	GM12878	blood:	n/a	chr6:130897402-130897416
6	ZNF143	chr6:130896888-130897429	GM12878	blood:	n/a	n/a
7	RELA	chr6:130896872-130897559	GM19099	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000202438	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9483144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9492650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv427767	chr6:130875056-131008620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv5475	chr6:130880169-130924850	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:130894200-130897200	Enhancers	Primary T cells from cord blood	blood
2	chr6:130894200-130899000	Enhancers	Fetal Thymus	thymus
3	chr6:130894400-130897000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:130894400-130897200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr6:130894600-130897000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr6:130895000-130897000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr6:130895200-130900000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:130895400-130898000	Enhancers	Thymus	Thymus
9	chr6:130895600-130897000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:130895800-130899400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr6:130896000-130898000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:130896000-130899400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:130896000-130899800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:130896400-130897400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:130896400-130898800	Enhancers	Primary hematopoietic stem cells	blood
16	chr6:130896400-130899000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:130896400-130899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:130896600-130898400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr6:130896600-130899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:130896800-130897000	Flanking Active TSS	Dnd41	blood
21	chr6:130896800-130897200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr6:130896800-130897200	Enhancers	GM12878-XiMat	blood
23	chr6:130896800-130897600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:130896800-130897800	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:130896800-130897800	Enhancers	Liver	Liver
26	chr6:130896800-130897800	Enhancers	HepG2	liver

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