Variant report

Variant	rs2244373
Chromosome Location	chr15:57622887-57622888
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	POLR2A	chr15:57622877-57623460	K562	blood:	n/a	n/a
2	TBP	chr15:57622828-57623208	K562	blood:	n/a	n/a
3	EP300	chr15:57622862-57622952	K562	blood:	n/a	n/a
4	TAF7	chr15:57622886-57623203	K562	blood:	n/a	n/a
5	TBP	chr15:57622814-57623207	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57600919..57606103-chr15:57620754..57624822,5	K562	blood:
2	chr15:57616601..57618515-chr15:57622221..57625785,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260870	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12905158	0.81[JPT][hapmap]
rs2244636	0.93[ASW][hapmap];0.91[LWK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs2544132	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv569579	chr15:57622600-57775806	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1045656	chr15:57622685-57748473	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv542395	chr15:57622685-57748473	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr15:57613000-57626800	Weak transcription	Right Atrium	heart
2	chr15:57613000-57635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:57616200-57624600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:57616200-57624800	Weak transcription	Lung	lung
5	chr15:57617600-57624800	Enhancers	Fetal Muscle Leg	muscle
6	chr15:57617600-57625800	Weak transcription	A549	lung
7	chr15:57618600-57632000	Weak transcription	Spleen	Spleen
8	chr15:57619000-57623400	Enhancers	HSMM	muscle
9	chr15:57620600-57626200	Weak transcription	Fetal Intestine Small	intestine
10	chr15:57620800-57623000	Enhancers	Fetal Muscle Trunk	muscle
11	chr15:57620800-57625800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:57621000-57623400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr15:57621000-57624400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:57621000-57626600	Weak transcription	Fetal Lung	lung
15	chr15:57621400-57623200	Enhancers	K562	blood
16	chr15:57621800-57623000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr15:57622000-57623200	Enhancers	HSMMtube	muscle
18	chr15:57622200-57623000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:57622400-57623400	Enhancers	Osteobl	bone
20	chr15:57622600-57623000	Weak transcription	NHLF	lung
21	chr15:57622600-57623600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:57622800-57623000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr15:57622800-57623000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:57622800-57624400	Enhancers	Hela-S3	cervix
25	chr15:57622800-57625600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:57622800-57629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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