Variant report

Variant	rs28448648
Chromosome Location	chr22:29210154-29210155
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:99 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr22:29209549-29210406	MCF-7	breast:	n/a	n/a
2	TCF12	chr22:29209307-29210462	MCF-7	breast:	n/a	n/a
3	GATA3	chr22:29209264-29210470	MCF-7	breast:	n/a	chr22:29209283-29209294
4	TCF12	chr22:29209617-29210273	A549	lung:	n/a	n/a
5	RAD21	chr22:29209637-29210270	MCF-7	breast:	n/a	chr22:29209907-29209926
6	ZNF217	chr22:29209559-29210293	MCF-7	breast:	n/a	n/a
7	NFIC	chr22:29209531-29210218	HepG2	liver:	n/a	n/a
8	SPI1	chr22:29209757-29210296	HL-60	blood:	n/a	chr22:29210016-29210025 chr22:29210014-29210027
9	HDAC2	chr22:29209573-29210229	HepG2	liver:	n/a	n/a
10	MAX	chr22:29209539-29210263	MCF-7	breast:	n/a	n/a
11	FOXA1	chr22:29209521-29210214	HepG2	liver:	n/a	n/a
12	GATA3	chr22:29209514-29210205	T-47D	breast:	n/a	n/a
13	CEBPB	chr22:29209845-29210176	HepG2	liver:	n/a	n/a
14	ELF1	chr22:29209493-29210313	MCF-7	breast:	n/a	n/a
15	EP300	chr22:29209465-29210232	HepG2	liver:	n/a	n/a
16	FOXM1	chr22:29209436-29210454	MCF-7	breast:	n/a	n/a
17	TCF12	chr22:29209546-29210343	MCF-7	breast:	n/a	n/a
18	MYBL2	chr22:29209520-29210279	HepG2	liver:	n/a	n/a
19	NFIC	chr22:29209561-29210242	HepG2	liver:	n/a	n/a
20	ESR1	chr22:29209401-29210383	T-47D	breast:	n/a	chr22:29209881-29209896
21	MXI1	chr22:29209679-29210183	HepG2	liver:	n/a	n/a
22	FOXM1	chr22:29209439-29210437	MCF-7	breast:	n/a	n/a
23	GATA3	chr22:29209412-29210472	MCF-7	breast:	n/a	n/a
24	MYBL2	chr22:29209354-29210347	HepG2	liver:	n/a	n/a
25	CEBPB	chr22:29209785-29210192	HepG2	liver:	n/a	n/a
26	FOXA2	chr22:29209504-29210162	HepG2	liver:	n/a	n/a
27	MBD4	chr22:29209486-29210234	HepG2	liver:	n/a	n/a
28	CEBPB	chr22:29209498-29210379	MCF-7	breast:	n/a	n/a
29	EP300	chr22:29209492-29210205	T-47D	breast:	n/a	n/a
30	HNF4G	chr22:29209646-29210259	HepG2	liver:	n/a	chr22:29209921-29209929 chr22:29209943-29209955 chr22:29209771-29209783
31	TEAD4	chr22:29209314-29210304	HepG2	liver:	n/a	n/a
32	JUND	chr22:29209739-29210167	HepG2	liver:	n/a	n/a
33	TEAD4	chr22:29209549-29210273	MCF-7	breast:	n/a	n/a
34	CEBPB	chr22:29209809-29210227	A549	lung:	n/a	n/a
35	EP300	chr22:29209521-29210455	MCF-7	breast:	n/a	chr22:29210391-29210405
36	JUND	chr22:29209601-29210274	T-47D	breast:	n/a	n/a
37	CEBPB	chr22:29209534-29210384	MCF-7	breast:	n/a	n/a
38	ESR1	chr22:29209436-29210294	T-47D	breast:	n/a	chr22:29209881-29209896
39	GABPA	chr22:29209596-29210186	MCF-7	breast:	n/a	n/a
40	CEBPB	chr22:29209644-29210252	HepG2	liver:	n/a	n/a
41	HDAC2	chr22:29209544-29210187	MCF-7	breast:	n/a	n/a
42	JUND	chr22:29209604-29210267	MCF-7	breast:	n/a	n/a
43	EP300	chr22:29209686-29210236	HepG2	liver:	n/a	n/a
44	POLR2A	chr22:29209413-29210505	MCF-7	breast:	n/a	n/a
45	POLR2A	chr22:29208852-29210631	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr22:29209407-29210440	MCF-7	breast:	n/a	n/a
47	NR2F2	chr22:29209410-29210381	MCF-7	breast:	n/a	n/a
48	POLR2A	chr22:29208833-29210305	HepG2	liver:	n/a	n/a
49	NR2F2	chr22:29209427-29210286	HepG2	liver:	n/a	n/a
50	JUND	chr22:29209495-29210270	MCF-7	breast:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29209656..29210229-chr7:155442747..155443267,2	MCF-7	breast:
2	chr22:29209458..29210319-chr22:29219546..29220119,2	MCF-7	breast:
3	chr22:29209499..29210507-chr22:29218962..29220139,4	MCF-7	breast:
4	chr22:29209392..29210394-chr22:29218588..29219512,11	MCF-7	breast:
5	chr1:150541646..150543170-chr22:29209298..29211232,2	MCF-7	breast:
6	chr22:29193615..29196363-chr22:29210020..29212072,3	K562	blood:
7	chr1:59248180..59249862-chr22:29208512..29210792,2	MCF-7	breast:
8	chr22:29209417..29210370-chr22:29219538..29220345,9	MCF-7	breast:
9	chr22:29209443..29210342-chr22:29781715..29782736,4	MCF-7	breast:
10	chr22:29209503..29210255-chr22:29913378..29913909,2	MCF-7	breast:
11	chr22:29209417..29210271-chr22:29219538..29220335,5	MCF-7	breast:
12	chr22:29186451..29187232-chr22:29209500..29210286,3	MCF-7	breast:
13	chr22:29209347..29210349-chr22:29913102..29913909,6	MCF-7	breast:
14	chr22:29133437..29141650-chr22:29203240..29216422,34	MCF-7	breast:
15	chr22:29209489..29210416-chr22:29218518..29220322,7	MCF-7	breast:
16	chr22:29193866..29196363-chr22:29210020..29211891,2	K562	blood:
17	chr22:29167462..29171106-chr22:29208719..29213065,6	MCF-7	breast:
18	chr22:29209469..29210394-chr22:29218588..29219526,8	MCF-7	breast:
19	chr22:29209433..29210241-chr22:29218806..29219519,5	MCF-7	breast:
20	chr22:29209173..29211441-chr8:125985338..125987911,2	MCF-7	breast:
21	chr22:29126583..29142031-chr22:29203252..29220632,67	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226471	TF binding region
ENSG00000272858	TF binding region
ENSG00000177606	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000159873	Chromatin interaction
ENSG00000264584	Chromatin interaction
ENSG00000100209	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10427858	0.84[EUR][1000 genomes]
rs17880096	0.86[EUR][1000 genomes]
rs56119508	0.84[EUR][1000 genomes]
rs6005861	0.84[EUR][1000 genomes]
rs9306460	0.84[EUR][1000 genomes]
rs9625551	0.81[EUR][1000 genomes]
rs9625558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29197200-29214200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:29197200-29231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:29197400-29214400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr22:29197400-29220400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:29197800-29214200	Weak transcription	Right Ventricle	heart
6	chr22:29198000-29225200	Weak transcription	HSMM	muscle
7	chr22:29198200-29218600	Weak transcription	Brain Angular Gyrus	brain
8	chr22:29198400-29214000	Weak transcription	Colonic Mucosa	Colon
9	chr22:29198400-29214400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:29198400-29215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:29198400-29225200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:29198600-29210600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:29198600-29211200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:29198600-29212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:29198600-29214200	Weak transcription	Colon Smooth Muscle	Colon
16	chr22:29198600-29214400	Weak transcription	Aorta	Aorta
17	chr22:29198600-29214600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:29198600-29219400	Weak transcription	NHLF	lung
19	chr22:29198600-29225200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr22:29198600-29225200	Weak transcription	Osteobl	bone
21	chr22:29198600-29231400	Weak transcription	HSMMtube	muscle
22	chr22:29198800-29214200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr22:29198800-29214400	Weak transcription	Fetal Heart	heart
24	chr22:29198800-29230800	Weak transcription	NHEK	skin
25	chr22:29200600-29231400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:29204800-29214600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:29205000-29214200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr22:29205200-29214400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:29205200-29218800	Weak transcription	Brain Hippocampus Middle	brain
30	chr22:29205400-29217000	Weak transcription	Gastric	stomach
31	chr22:29205400-29225600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:29206200-29215600	Enhancers	Stomach Mucosa	stomach
33	chr22:29207000-29210200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr22:29207000-29213200	Enhancers	Pancreas	Pancrea
35	chr22:29207200-29210200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:29207200-29210400	Enhancers	Fetal Muscle Leg	muscle
37	chr22:29207400-29210800	Enhancers	Adipose Nuclei	Adipose
38	chr22:29207400-29212000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr22:29207400-29214200	Weak transcription	Small Intestine	intestine
40	chr22:29207400-29214400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr22:29207600-29210800	Enhancers	Primary hematopoietic stem cells	blood
42	chr22:29207600-29211200	Enhancers	Duodenum Mucosa	Duodenum
43	chr22:29207600-29211800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr22:29207800-29214400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr22:29208000-29210200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr22:29208000-29211000	Enhancers	Fetal Thymus	thymus
47	chr22:29208200-29210200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:29208200-29211000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr22:29208200-29211400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr22:29208200-29214200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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