Variant report

Variant	rs60040900
Chromosome Location	chr17:34098026-34098027
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	CEBPB	chr17:34097956-34098147	K562	blood:	n/a	chr17:34098022-34098033
2	STAT3	chr17:34097949-34098096	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr17:34097970-34098112	HepG2	liver:	n/a	chr17:34098022-34098033
4	CEBPB	chr17:34097940-34098126	A549	lung:	n/a	chr17:34098022-34098033

No.	Distal block	Cell Line	Cell type
1	chr17:34093517..34095983-chr17:34096987..34099575,2	MCF-7	breast:
2	chr17:34091596..34094138-chr17:34096970..34098893,2	K562	blood:
3	chr17:34092617..34094138-chr17:34096970..34099054,2	K562	blood:

Variant related genes	Relation type
MMP28	TF binding region
ENSG00000129270	Chromatin interaction

rs_ID	r²[population]
rs10451309	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4251700	0.87[ASN][1000 genomes]
rs4251704	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4251710	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4251744	0.80[EUR][1000 genomes]
rs55792948	0.92[ASN][1000 genomes]
rs56170514	0.92[ASN][1000 genomes]
rs56262662	0.92[ASN][1000 genomes]
rs56347933	0.84[ASN][1000 genomes]
rs56382694	0.87[ASN][1000 genomes]
rs7209512	0.80[EUR][1000 genomes]
rs8073456	0.80[EUR][1000 genomes]
rs9896368	0.91[EUR][1000 genomes]
rs9901469	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9907320	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34091800-34099400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:34091800-34101800	Weak transcription	Aorta	Aorta
3	chr17:34091800-34103600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:34092000-34099400	Weak transcription	Right Ventricle	heart
5	chr17:34092000-34100000	Weak transcription	Right Atrium	heart
6	chr17:34092000-34100400	Weak transcription	Lung	lung
7	chr17:34092000-34100800	Weak transcription	Fetal Brain Female	brain
8	chr17:34092000-34101800	Weak transcription	HMEC	breast
9	chr17:34092200-34100200	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:34092400-34100400	Weak transcription	Stomach Mucosa	stomach
11	chr17:34092400-34101000	Weak transcription	Brain Substantia Nigra	brain
12	chr17:34092400-34101200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr17:34092400-34114200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr17:34092600-34100800	Weak transcription	Colonic Mucosa	Colon
15	chr17:34093200-34098800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:34093200-34100000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr17:34093200-34100600	Weak transcription	Fetal Intestine Large	intestine
18	chr17:34093400-34098800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:34093400-34098800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr17:34093400-34100200	Weak transcription	Brain Germinal Matrix	brain
21	chr17:34093800-34098800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:34093800-34100600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:34094000-34099000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:34094000-34100000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:34094000-34100600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:34094400-34098800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:34094400-34099600	Weak transcription	Adipose Nuclei	Adipose
28	chr17:34094600-34099000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr17:34094800-34100800	Weak transcription	Hela-S3	cervix
30	chr17:34096600-34100600	Weak transcription	Fetal Intestine Small	intestine
31	chr17:34097400-34100000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:34097600-34099200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:34097600-34102800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr17:34098000-34098200	Enhancers	Duodenum Mucosa	Duodenum
35	chr17:34098000-34100200	Weak transcription	Rectal Mucosa Donor 31	rectum

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