Variant report

Variant	rs28921372
Chromosome Location	chr8:107670090-107670091
allele	G/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	POLR2A	chr8:107669981-107670788	ECC-1	luminal epithelium:	n/a	n/a
2	TBP	chr8:107669578-107670350	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:107669931-107670293	U87	brain:	n/a	n/a
4	TAF1	chr8:107669892-107670406	H1-hESC	embryonic stem cell:	n/a	n/a
5	PAX5	chr8:107669940-107670523	GM12892	blood:	n/a	n/a
6	TAF1	chr8:107669473-107670396	MCF-7	breast:	n/a	n/a
7	POLR2A	chr8:107669921-107670301	GM12878	blood:	n/a	n/a
8	EP300	chr8:107669491-107670905	ECC-1	luminal epithelium:	n/a	chr8:107670556-107670565 chr8:107669556-107669565 chr8:107669549-107669563 chr8:107669555-107669569
9	RCOR1	chr8:107669637-107670261	Hela-S3	cervix:	n/a	n/a
10	SP1	chr8:107669675-107670144	GM12878	blood:	n/a	chr8:107669797-107669809 chr8:107669792-107669804 chr8:107669799-107669813 chr8:107669794-107669808 chr8:107669793-107669802 chr8:107669797-107669809 chr8:107669794-107669803 chr8:107670069-107670083 chr8:107670077-107670086 chr8:107669798-107669807 chr8:107669799-107669808 chr8:107669794-107669803 chr8:107669732-107669746 chr8:107670066-107670080
11	FOXA1	chr8:107669717-107670092	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr8:107669557-107670715	NB4	blood:	n/a	n/a
13	POLR2A	chr8:107669508-107670286	PANC-1	pancreas:	n/a	n/a
14	SIN3AK20	chr8:107669969-107670322	K562	blood:	n/a	n/a
15	POLR2A	chr8:107669387-107671001	MCF-7	breast:	n/a	n/a
16	IRF1	chr8:107669605-107670256	K562	blood:	n/a	chr8:107669792-107669806
17	IRF1	chr8:107669286-107670232	K562	blood:	n/a	chr8:107669287-107669296 chr8:107669792-107669806
18	MTA3	chr8:107669280-107671306	GM12878	blood:	n/a	n/a
19	RFX5	chr8:107669899-107670252	HepG2	liver:	n/a	n/a
20	MAX	chr8:107669586-107670814	H1-hESC	embryonic stem cell:	n/a	chr8:107670065-107670075
21	MAX	chr8:107669606-107671144	K562	blood:	n/a	chr8:107670065-107670075
22	SIN3AK20	chr8:107670077-107670790	PANC-1	pancreas:	n/a	n/a
23	CHD2	chr8:107669720-107670186	GM12878	blood:	n/a	chr8:107669794-107669804
24	GTF2F1	chr8:107669984-107670259	K562	blood:	n/a	n/a
25	MYC	chr8:107669678-107670734	MCF-7	breast:	n/a	chr8:107670065-107670075
26	HEY1	chr8:107669507-107670399	HepG2	liver:	n/a	n/a
27	CHD1	chr8:107669321-107670189	H1-hESC	embryonic stem cell:	n/a	chr8:107669794-107669804
28	EP300	chr8:107669398-107670185	K562	blood:	n/a	chr8:107669556-107669565 chr8:107669549-107669563 chr8:107669555-107669569
29	TCF7L2	chr8:107669889-107670139	PANC-1	pancreas:	n/a	n/a
30	TCF7L2	chr8:107669601-107670230	Hela-S3	cervix:	n/a	n/a
31	CTBP2	chr8:107669586-107670623	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:107669971-107670296	GM12891	blood:	n/a	n/a
33	POLR2A	chr8:107669509-107670275	SK-N-MC	brain:	n/a	n/a
34	HDAC2	chr8:107669420-107670391	MCF-7	breast:	n/a	chr8:107669549-107669563 chr8:107669550-107669564 chr8:107669544-107669558 chr8:107669545-107669559 chr8:107669554-107669568
35	TBL1XR1	chr8:107669583-107670175	GM12878	blood:	n/a	n/a
36	CHD1	chr8:107669064-107671535	IMR90	lung:	n/a	chr8:107669794-107669804
37	TAF1	chr8:107669514-107670818	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr8:107669543-107670371	HEK293	kidney:	n/a	n/a
39	MAX	chr8:107669521-107671199	GM12878	blood:	n/a	chr8:107670065-107670075
40	GATA3	chr8:107669506-107670307	A549	lung:	n/a	n/a
41	MAX	chr8:107669546-107670872	HepG2	liver:	n/a	chr8:107670065-107670075
42	TEAD4	chr8:107669740-107670114	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr8:107669568-107670308	K562	blood:	n/a	n/a
44	CHD2	chr8:107669558-107670284	Hela-S3	cervix:	n/a	chr8:107669794-107669804
45	MAX	chr8:107669378-107671172	NB4	blood:	n/a	chr8:107670065-107670075
46	EP300	chr8:107669550-107670267	H1-hESC	embryonic stem cell:	n/a	chr8:107669556-107669565 chr8:107669555-107669569
47	POLR2A	chr8:107669508-107671420	GM18505	blood:	n/a	n/a
48	TAF1	chr8:107669969-107670184	GM12892	blood:	n/a	n/a
49	POLR2A	chr8:107669509-107671155	GM19099	blood:	n/a	n/a
50	SP1	chr8:107669526-107670207	H1-hESC	embryonic stem cell:	n/a	chr8:107669797-107669809 chr8:107669792-107669804 chr8:107669799-107669813 chr8:107669794-107669808 chr8:107669793-107669802 chr8:107669797-107669809 chr8:107669794-107669803 chr8:107670069-107670083 chr8:107670077-107670086 chr8:107669798-107669807 chr8:107669799-107669808 chr8:107669794-107669803 chr8:107669732-107669746 chr8:107670066-107670080

No.	Distal block	Cell Line	Cell type
1	chr8:107628700..107633249-chr8:107668680..107671616,7	MCF-7	breast:
2	chr8:107628207..107632288-chr8:107667853..107671892,6	MCF-7	breast:
3	chr7:56119419..56122353-chr8:107669214..107670843,2	MCF-7	breast:
4	chr8:107670007..107671645-chr8:107694032..107695827,2	K562	blood:

Variant related genes	Relation type
OXR1	TF binding region
ENSG00000253582	TF binding region
ENSG00000164830	Chromatin interaction
ENSG00000146731	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10087077	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10089890	0.85[EUR][1000 genomes]
rs10090534	0.80[EUR][1000 genomes]
rs10091611	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10092665	0.86[EUR][1000 genomes]
rs10099361	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10100839	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10101102	0.82[EUR][1000 genomes]
rs10102112	0.84[EUR][1000 genomes]
rs10106834	0.80[EUR][1000 genomes]
rs12544138	0.86[EUR][1000 genomes]
rs12548149	0.82[EUR][1000 genomes]
rs13254031	0.86[EUR][1000 genomes]
rs13255878	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16875002	0.86[EUR][1000 genomes]
rs28808577	0.81[EUR][1000 genomes]
rs28921395	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35499727	0.82[EUR][1000 genomes]
rs36011510	0.86[EUR][1000 genomes]
rs3779996	0.80[EUR][1000 genomes]
rs9297385	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107667000-107671400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:107668600-107670800	Active TSS	Fetal Kidney	kidney
3	chr8:107668600-107672200	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:107668800-107670800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:107668800-107671000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:107668800-107671000	Active TSS	NHDF-Ad	bronchial
7	chr8:107668800-107671200	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr8:107668800-107672000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:107669000-107670600	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr8:107669000-107671000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:107669000-107671000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:107669000-107671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:107669000-107671000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:107669000-107671000	Active TSS	HMEC	breast
15	chr8:107669000-107671200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:107669000-107671600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:107669000-107671800	Active TSS	Right Atrium	heart
18	chr8:107669000-107671800	Active TSS	K562	blood
19	chr8:107669200-107670200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:107669200-107670200	Active TSS	Colonic Mucosa	Colon
21	chr8:107669200-107670400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr8:107669200-107670800	Active TSS	Thymus	Thymus
23	chr8:107669200-107670800	Active TSS	NH-A	brain
24	chr8:107669200-107671000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr8:107669200-107671000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:107669200-107671000	Active TSS	Placenta Amnion	Placenta Amnion
27	chr8:107669200-107671000	Active TSS	A549	lung
28	chr8:107669200-107671200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:107669200-107671200	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr8:107669200-107671200	Active TSS	Primary T cells fromperipheralblood	blood
31	chr8:107669200-107671200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:107669200-107671200	Active TSS	Brain Hippocampus Middle	brain
33	chr8:107669200-107671200	Active TSS	Fetal Intestine Small	intestine
34	chr8:107669200-107671200	Active TSS	Fetal Lung	lung
35	chr8:107669200-107671200	Active TSS	Fetal Muscle Trunk	muscle
36	chr8:107669200-107671200	Active TSS	Fetal Muscle Leg	muscle
37	chr8:107669200-107671200	Active TSS	Fetal Thymus	thymus
38	chr8:107669200-107671200	Active TSS	Stomach Mucosa	stomach
39	chr8:107669200-107671400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:107669200-107671400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:107669200-107671400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:107669200-107671400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:107669200-107671400	Active TSS	Ovary	ovary
44	chr8:107669200-107671400	Active TSS	Stomach Smooth Muscle	stomach
45	chr8:107669200-107671400	Active TSS	GM12878-XiMat	blood
46	chr8:107669200-107671600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr8:107669200-107671600	Active TSS	Psoas Muscle	Psoas
48	chr8:107669200-107672000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr8:107669200-107672000	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr8:107669200-107672000	Active TSS	Right Ventricle	heart

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