Variant report

Variant	rs61893894
Chromosome Location	chr11:65659093-65659094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:207)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:207 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65657750-65661000	K562	blood:	n/a	n/a
2	TEAD4	chr11:65657692-65659254	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr11:65657347-65660286	HepG2	liver:	n/a	n/a
4	SIN3AK20	chr11:65657618-65659903	HCT-116	colon:	n/a	n/a
5	TAF1	chr11:65657831-65659679	K562	blood:	n/a	n/a
6	POLR2A	chr11:65657492-65660848	GM12891	blood:	n/a	n/a
7	EGR1	chr11:65659033-65659495	K562	blood:	n/a	chr11:65659149-65659162
8	POLR2A	chr11:65659023-65659727	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:65657769-65660331	K562	blood:	n/a	n/a
10	TAL1	chr11:65658096-65659620	K562	blood:	n/a	n/a
11	POLR2A	chr11:65654632-65669034	U87	brain:	n/a	n/a
12	POLR2A	chr11:65657733-65661893	SK-N-MC	brain:	n/a	n/a
13	PBX3	chr11:65657625-65660136	A549	lung:	n/a	n/a
14	UBTF	chr11:65657777-65659843	K562	blood:	n/a	n/a
15	POLR2A	chr11:65657516-65662050	K562	blood:	n/a	n/a
16	CREB1	chr11:65657568-65659759	K562	blood:	n/a	n/a
17	SIN3AK20	chr11:65658161-65659209	A549	lung:	n/a	n/a
18	POLR2A	chr11:65657936-65661092	Hela-S3	cervix:	n/a	n/a
19	TEAD4	chr11:65657676-65659626	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr11:65658960-65659110	GM12867	blood:	n/a	n/a
21	POLR2A	chr11:65655144-65662194	HUVEC	blood vessel:	n/a	n/a
22	NFIC	chr11:65657633-65659342	SK-N-SH	brain:	n/a	n/a
23	ZBTB33	chr11:65658543-65659699	K562	blood:	n/a	n/a
24	MTA3	chr11:65657413-65659809	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:65657409-65662237	HCT-116	colon:	n/a	n/a
26	MBD4	chr11:65658903-65659756	HepG2	liver:	n/a	n/a
27	PML	chr11:65657441-65661967	GM12878	blood:	n/a	n/a
28	E2F6	chr11:65657498-65659690	A549	lung:	n/a	n/a
29	PBX3	chr11:65657461-65659788	SK-N-SH	brain:	n/a	n/a
30	SIN3AK20	chr11:65657191-65661090	PANC-1	pancreas:	n/a	n/a
31	ETS1	chr11:65657668-65660023	K562	blood:	n/a	chr11:65659355-65659368 chr11:65659357-65659368 chr11:65659356-65659370
32	TEAD4	chr11:65657196-65660349	K562	blood:	n/a	n/a
33	TCF12	chr11:65657767-65659500	GM12878	blood:	n/a	n/a
34	CTCF	chr11:65658980-65659130	HAc	cerebellar:	n/a	n/a
35	TRIM28	chr11:65657673-65660126	K562	blood:	n/a	n/a
36	POLR2A	chr11:65657846-65659707	A549	lung:	n/a	n/a
37	GATA2	chr11:65657750-65659962	HUVEC	blood vessel:	n/a	chr11:65659559-65659573
38	FOSL2	chr11:65658712-65659332	A549	lung:	n/a	n/a
39	POLR2A	chr11:65658686-65659583	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:65657731-65661298	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:65657295-65662093	PFSK-1	brain:	n/a	n/a
42	HEY1	chr11:65657685-65660821	K562	blood:	n/a	n/a
43	ELF1	chr11:65657586-65659559	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:65657671-65660085	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr11:65658577-65659212	Hela-S3	cervix:	n/a	n/a
46	FOXP2	chr11:65658698-65659164	PFSK-1	brain:	n/a	n/a
47	HCFC1	chr11:65657083-65660476	Hela-S3	cervix:	n/a	n/a
48	FOSL2	chr11:65657605-65659450	SK-N-SH	brain:	n/a	chr11:65657994-65658003
49	POLR2A	chr11:65655457-65664831	A549	lung:	n/a	n/a
50	TEAD4	chr11:65657925-65659513	A549	lung:	n/a	n/a

No data

(count:38 , 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	chr11:65658665..65659179-chr11:65756310..65757056,2	MCF-7	breast:
4	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
5	chr11:65382961..65385315-chr11:65657365..65660183,3	K562	blood:
6	chr11:65658617..65659346-chr19:57117182..57118018,2	MCF-7	breast:
7	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
8	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
9	chr11:65659026..65661070-chr11:65896496..65899355,2	K562	blood:
10	chr11:65657578..65659583-chr12:120728945..120731288,2	K562	blood:
11	chr11:65658134..65659956-chr11:66102829..66104938,2	K562	blood:
12	chr11:65397014..65399250-chr11:65658274..65660177,2	K562	blood:
13	chr11:65657179..65659552-chr11:65792099..65795097,2	MCF-7	breast:
14	chr1:8929360..8931517-chr11:65656879..65659148,2	K562	blood:
15	chr11:65546319..65548897-chr11:65656816..65659739,4	K562	blood:
16	chr11:65383055..65385315-chr11:65656769..65659288,2	K562	blood:
17	chr11:65656381..65659645-chr11:65787840..65790125,3	K562	blood:
18	chr11:65658275..65660605-chr5:137804830..137807316,2	K562	blood:
19	chr11:65574802..65576504-chr11:65658689..65661475,2	K562	blood:
20	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
21	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
22	chr11:65493436..65495930-chr11:65657867..65659544,2	K562	blood:
23	chr11:65658161..65659190-chr11:65678815..65679913,5	MCF-7	breast:
24	chr11:65492420..65494936-chr11:65657867..65659851,2	K562	blood:
25	chr11:65657930..65659492-chr11:65811101..65813091,2	K562	blood:
26	chr11:65145713..65148511-chr11:65656640..65659365,2	MCF-7	breast:
27	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
28	chr11:65657243..65659691-chr11:65793625..65795769,2	K562	blood:
29	chr11:65657526..65660220-chr11:65812973..65815737,3	MCF-7	breast:
30	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
31	chr11:65567188..65568859-chr11:65658310..65660115,2	K562	blood:
32	chr11:65656060..65659299-chr11:65825283..65827500,3	K562	blood:
33	chr11:65544303..65548645-chr11:65657766..65659706,5	K562	blood:
34	chr11:62609216..62609799-chr11:65658414..65659370,2	Hela-S3	cervix:
35	chr11:65479676..65481721-chr11:65658837..65660766,2	MCF-7	breast:
36	chr1:156469829..156471624-chr11:65658653..65660354,2	K562	blood:
37	chr11:65421851..65424621-chr11:65658230..65660930,2	K562	blood:
38	chr11:65646632..65650808-chr11:65654844..65660529,6	MCF-7	breast:

No data

Variant related genes	Relation type
FIBP	TF binding region
ENSG00000175294	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000214659	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000172543	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000116604	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000162241	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000074800	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000174791	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11227335	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34484428	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34891773	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35831421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35841983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35957860	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41302417	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61893863	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61893865	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61895682	1.00[AMR][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	chr11:65657600-65659200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:65657600-65659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr11:65657800-65659200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:65657800-65659200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr11:65657800-65659200	Flanking Active TSS	Pancreas	Pancrea
17	chr11:65657800-65659400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:65657800-65659400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr11:65657800-65659400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:65657800-65659400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:65657800-65659400	Active TSS	Colon Smooth Muscle	Colon
22	chr11:65657800-65659400	Enhancers	Fetal Heart	heart
23	chr11:65657800-65659400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:65657800-65659400	Active TSS	Right Ventricle	heart
25	chr11:65657800-65659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr11:65657800-65659600	Active TSS	Brain Angular Gyrus	brain
27	chr11:65657800-65659600	Active TSS	Fetal Kidney	kidney
28	chr11:65657800-65659600	Active TSS	GM12878-XiMat	blood
29	chr11:65657800-65659800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr11:65657800-65659800	Active TSS	Left Ventricle	heart
31	chr11:65657800-65660000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr11:65657800-65661200	Active TSS	Psoas Muscle	Psoas
33	chr11:65658000-65659200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:65658000-65659200	Active TSS	Primary T cells from cord blood	blood
35	chr11:65658000-65659200	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr11:65658000-65659200	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:65658000-65659200	Active TSS	Rectal Smooth Muscle	rectum
38	chr11:65658000-65659200	Active TSS	A549	lung
39	chr11:65658000-65659400	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:65658000-65659400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:65658000-65659400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr11:65658000-65659400	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr11:65658000-65659400	Active TSS	Hela-S3	cervix
44	chr11:65658000-65659400	Active TSS	HepG2	liver
45	chr11:65658000-65659400	Active TSS	HSMM	muscle
46	chr11:65658000-65659400	Active TSS	HUVEC	blood vessel
47	chr11:65658000-65659400	Active TSS	K562	blood
48	chr11:65658000-65659600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:65658000-65659600	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr11:65658000-65659600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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