Variant report

Variant	rs57225106
Chromosome Location	chr11:65659389-65659390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:421)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:65659253-65659711	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:65657750-65661000	K562	blood:	n/a	n/a
3	CTCF	chr11:65659320-65659470	GM12872	blood:	n/a	chr11:65659357-65659370
4	POLR2A	chr11:65657347-65660286	HepG2	liver:	n/a	n/a
5	SIN3AK20	chr11:65657618-65659903	HCT-116	colon:	n/a	n/a
6	CTCF	chr11:65659360-65659510	GM12866	blood:	n/a	n/a
7	TAF1	chr11:65657831-65659679	K562	blood:	n/a	n/a
8	POLR2A	chr11:65657492-65660848	GM12891	blood:	n/a	n/a
9	SMC3	chr11:65659260-65659620	K562	blood:	n/a	n/a
10	YY1	chr11:65659119-65659558	GM12892	blood:	n/a	n/a
11	TCF3	chr11:65659169-65659583	GM12878	blood:	n/a	chr11:65659362-65659372 chr11:65659357-65659370 chr11:65659362-65659371
12	CTCF	chr11:65659328-65659555	K562	blood:	n/a	chr11:65659357-65659370
13	EGR1	chr11:65659033-65659495	K562	blood:	n/a	chr11:65659149-65659162
14	CTCF	chr11:65659340-65659490	Hela-S3	cervix:	n/a	chr11:65659357-65659370
15	POU2F2	chr11:65659176-65660722	GM12878	blood:	n/a	n/a
16	CTCF	chr11:65659304-65659572	GM19238	blood:	n/a	chr11:65659357-65659370
17	MAX	chr11:65659287-65659562	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:65659023-65659727	GM12878	blood:	n/a	n/a
19	MYC	chr11:65659259-65659437	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:65657769-65660331	K562	blood:	n/a	n/a
21	RCOR1	chr11:65659255-65659468	Hela-S3	cervix:	n/a	n/a
22	TAL1	chr11:65658096-65659620	K562	blood:	n/a	n/a
23	HDAC2	chr11:65659235-65659561	K562	blood:	n/a	n/a
24	POLR2A	chr11:65654632-65669034	U87	brain:	n/a	n/a
25	POLR2A	chr11:65657733-65661893	SK-N-MC	brain:	n/a	n/a
26	PBX3	chr11:65657625-65660136	A549	lung:	n/a	n/a
27	UBTF	chr11:65657777-65659843	K562	blood:	n/a	n/a
28	CTCF	chr11:65659360-65659510	HL-60	blood:	n/a	n/a
29	REST	chr11:65659275-65659761	A549	lung:	n/a	n/a
30	POLR2A	chr11:65657516-65662050	K562	blood:	n/a	n/a
31	CTCF	chr11:65659170-65659704	K562	blood:	n/a	chr11:65659357-65659370
32	CTCF	chr11:65659360-65659510	GM12864	blood:	n/a	n/a
33	CREB1	chr11:65657568-65659759	K562	blood:	n/a	n/a
34	TBL1XR1	chr11:65659386-65659700	K562	blood:	n/a	n/a
35	POLR2A	chr11:65657936-65661092	Hela-S3	cervix:	n/a	n/a
36	NFATC1	chr11:65659263-65659686	GM12878	blood:	n/a	n/a
37	TEAD4	chr11:65657676-65659626	SK-N-SH	brain:	n/a	n/a
38	GABPA	chr11:65659106-65659610	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr11:65659340-65659490	GM06990	blood:	n/a	chr11:65659357-65659370
40	ELF1	chr11:65659239-65659585	HepG2	liver:	n/a	n/a
41	CTCF	chr11:65659360-65659510	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr11:65659320-65659470	HFF	foreskin:	n/a	chr11:65659357-65659370
43	POLR2A	chr11:65655144-65662194	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr11:65659320-65659470	HepG2	liver:	n/a	chr11:65659357-65659370
45	CTCF	chr11:65659340-65659490	BJ	skin:	n/a	chr11:65659357-65659370
46	CTCF	chr11:65659291-65659566	GM12891	blood:	n/a	chr11:65659357-65659370
47	SIN3AK20	chr11:65659121-65659594	K562	blood:	n/a	n/a
48	ZBTB33	chr11:65658543-65659699	K562	blood:	n/a	n/a
49	MTA3	chr11:65657413-65659809	GM12878	blood:	n/a	n/a
50	JUND	chr11:65659297-65659650	K562	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65190823..65192325-chr11:65659028..65661799,2	K562	blood:
2	chr11:65657107..65659864-chr11:66036057..66038289,3	MCF-7	breast:
3	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
4	chr11:65382961..65385315-chr11:65657365..65660183,3	K562	blood:
5	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
6	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
7	chr11:65659026..65661070-chr11:65896496..65899355,2	K562	blood:
8	chr11:65657578..65659583-chr12:120728945..120731288,2	K562	blood:
9	chr11:65658134..65659956-chr11:66102829..66104938,2	K562	blood:
10	chr11:65397014..65399250-chr11:65658274..65660177,2	K562	blood:
11	chr11:65657179..65659552-chr11:65792099..65795097,2	MCF-7	breast:
12	chr11:65546319..65548897-chr11:65656816..65659739,4	K562	blood:
13	chr11:65656381..65659645-chr11:65787840..65790125,3	K562	blood:
14	chr11:65658275..65660605-chr5:137804830..137807316,2	K562	blood:
15	chr11:65574802..65576504-chr11:65658689..65661475,2	K562	blood:
16	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
17	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
18	chr11:65493436..65495930-chr11:65657867..65659544,2	K562	blood:
19	chr11:65492420..65494936-chr11:65657867..65659851,2	K562	blood:
20	chr11:65657930..65659492-chr11:65811101..65813091,2	K562	blood:
21	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
22	chr11:65657243..65659691-chr11:65793625..65795769,2	K562	blood:
23	chr11:65657526..65660220-chr11:65812973..65815737,3	MCF-7	breast:
24	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
25	chr11:65567188..65568859-chr11:65658310..65660115,2	K562	blood:
26	chr11:65544303..65548645-chr11:65657766..65659706,5	K562	blood:
27	chr11:65479676..65481721-chr11:65658837..65660766,2	MCF-7	breast:
28	chr1:156469829..156471624-chr11:65658653..65660354,2	K562	blood:
29	chr11:65421851..65424621-chr11:65658230..65660930,2	K562	blood:
30	chr11:65646632..65650808-chr11:65654844..65660529,6	MCF-7	breast:

No data

Variant related genes	Relation type
FIBP	TF binding region
ENSG00000214659	Chromatin interaction
ENSG00000116604	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000172543	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000174791	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7103516	1.00[EUR][1000 genomes]
rs7119832	1.00[EUR][1000 genomes]
rs7128298	1.00[EUR][1000 genomes]
rs7946742	1.00[EUR][1000 genomes]
rs9919545	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv530622	chr11:65649068-65661361	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65655000-65660200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:65655000-65662200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:65656200-65659600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr11:65656200-65659600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr11:65656200-65659600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr11:65656200-65659800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:65656200-65660000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:65656200-65660200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:65656200-65660200	Flanking Active TSS	Dnd41	blood
10	chr11:65656200-65660800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr11:65656200-65662200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr11:65657600-65659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:65657800-65659400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:65657800-65659400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:65657800-65659400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:65657800-65659400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:65657800-65659400	Active TSS	Colon Smooth Muscle	Colon
18	chr11:65657800-65659400	Enhancers	Fetal Heart	heart
19	chr11:65657800-65659400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:65657800-65659400	Active TSS	Right Ventricle	heart
21	chr11:65657800-65659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:65657800-65659600	Active TSS	Brain Angular Gyrus	brain
23	chr11:65657800-65659600	Active TSS	Fetal Kidney	kidney
24	chr11:65657800-65659600	Active TSS	GM12878-XiMat	blood
25	chr11:65657800-65659800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:65657800-65659800	Active TSS	Left Ventricle	heart
27	chr11:65657800-65660000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr11:65657800-65661200	Active TSS	Psoas Muscle	Psoas
29	chr11:65658000-65659400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:65658000-65659400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr11:65658000-65659400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr11:65658000-65659400	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr11:65658000-65659400	Active TSS	Hela-S3	cervix
34	chr11:65658000-65659400	Active TSS	HepG2	liver
35	chr11:65658000-65659400	Active TSS	HSMM	muscle
36	chr11:65658000-65659400	Active TSS	HUVEC	blood vessel
37	chr11:65658000-65659400	Active TSS	K562	blood
38	chr11:65658000-65659600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:65658000-65659600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:65658000-65659600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:65658000-65659600	Active TSS	NHDF-Ad	bronchial
42	chr11:65658000-65659800	Active TSS	Lung	lung
43	chr11:65658000-65659800	Active TSS	HSMMtube	muscle
44	chr11:65658000-65660000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:65658200-65659400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:65658200-65659600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:65658200-65659600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr11:65658200-65659600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:65658200-65659600	Flanking Active TSS	Colonic Mucosa	Colon
50	chr11:65658200-65659600	Active TSS	Ovary	ovary

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