Variant report

Variant	rs12901431
Chromosome Location	chr15:44962599-44962600
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	SPI1	chr15:44962527-44963245	GM12878	blood:	n/a	chr15:44962976-44962989 chr15:44962978-44962987 chr15:44962977-44962990

No.	Distal block	Cell Line	Cell type
1	chr15:44953555..44957056-chr15:44962144..44964299,4	K562	blood:
2	chr15:44962435..44966243-chr15:45002253..45005199,5	MCF-7	breast:
3	chr15:44953988..44959855-chr15:44961562..44971881,15	K562	blood:
4	chr15:44952188..44965604-chr15:45001074..45012963,51	K562	blood:

Variant related genes	Relation type
PATL2	TF binding region
ENSG00000104133	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000229474	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1901529	1.00[ASN][1000 genomes]
rs2556568	1.00[ASN][1000 genomes]
rs4099	0.86[EUR][1000 genomes]
rs8037416	1.00[ASN][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	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44956200-44962800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:44956200-44968800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:44958400-44964800	Enhancers	Fetal Thymus	thymus
4	chr15:44959400-44963200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:44959400-44964000	Enhancers	Primary B cells from peripheral blood	blood
6	chr15:44959400-44967200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr15:44959400-44967200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr15:44959400-44967400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr15:44959400-44974600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr15:44959600-44963000	Weak transcription	K562	blood
11	chr15:44959600-44967400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:44959600-44968600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:44959600-44969000	Enhancers	Primary T cells from cord blood	blood
14	chr15:44959600-44971400	Enhancers	Primary B cells from cord blood	blood
15	chr15:44959800-44963400	Weak transcription	Right Ventricle	heart
16	chr15:44959800-44968200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr15:44959800-44968400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:44960200-44963400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:44960400-44962600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:44960400-44967200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr15:44960600-44963200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr15:44961400-44963400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:44961600-44963200	Enhancers	Thymus	Thymus
24	chr15:44961600-44967400	Weak transcription	Spleen	Spleen
25	chr15:44962000-44967200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr15:44962000-44967200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr15:44962200-44962600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:44962200-44962600	Weak transcription	GM12878-XiMat	blood
29	chr15:44962200-44963800	Enhancers	Placenta	Placenta
30	chr15:44962200-44969000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:44962400-44962800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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