Variant report

Variant	rs2377591
Chromosome Location	chr12:8973275-8973276
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	HA-E2F1	chr12:8973260-8973561	MCF-7	breast:	n/a	n/a
2	NR2F2	chr12:8973248-8973646	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8849321..8851641-chr12:8972402..8975328,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-M6PR-2	chr12:8973182-8973309	ENSG00000256904.1

Variant related genes	Relation type
A2ML1	TF binding region
ENSG00000166532	Chromatin interaction

rs_ID	r²[population]
rs10161484	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10842334	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10842335	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12296768	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8966800-8975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:8967000-8975000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:8967800-8974000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:8969800-8975600	Enhancers	Placenta	Placenta
5	chr12:8970200-8975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:8970600-8973600	Weak transcription	Esophagus	oesophagus
7	chr12:8970800-8975600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:8970800-8975800	Weak transcription	K562	blood
9	chr12:8971400-8974000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:8971800-8974400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:8972000-8975200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:8972400-8973600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:8972600-8974800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:8972600-8975000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:8972600-8975000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:8972800-8974000	Weak transcription	NHEK	skin
17	chr12:8972800-8974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:8972800-8974200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:8972800-8975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:8972800-8975200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:8973000-8973400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:8973000-8973400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:8973000-8975000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:8973000-8975000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:8973200-8973600	Weak transcription	Placenta Amnion	Placenta Amnion

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