Variant report

Variant	rs56223609
Chromosome Location	chr11:66246863-66246864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr11:66246347-66246879	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:66246468-66248264	ProgFib	skin:	n/a	n/a
3	ELF1	chr11:66246828-66248381	GM12878	blood:	n/a	chr11:66247156-66247168 chr11:66247892-66247901 chr11:66247718-66247730 chr11:66247666-66247678
4	MAX	chr11:66246506-66248398	K562	blood:	n/a	chr11:66248151-66248161
5	POLR2A	chr11:66246443-66248405	HL-60	blood:	n/a	n/a
6	ZBTB7A	chr11:66246351-66247036	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr11:66246786-66248381	Hela-S3	cervix:	n/a	n/a
8	MTA3	chr11:66246132-66248652	GM12878	blood:	n/a	n/a
9	TEAD4	chr11:66246114-66247293	K562	blood:	n/a	n/a
10	RAD21	chr11:66246184-66246863	H1-hESC	embryonic stem cell:	n/a	chr11:66246573-66246586 chr11:66246570-66246589 chr11:66246574-66246588 chr11:66246587-66246599 chr11:66246574-66246584
11	BCL3	chr11:66245908-66248550	A549	lung:	n/a	chr11:66247900-66247909 chr11:66247719-66247732 chr11:66248228-66248237 chr11:66247761-66247774
12	STAT5A	chr11:66246679-66248538	GM12878	blood:	n/a	n/a
13	STAT3	chr11:66246425-66246896	GM12878	blood:	n/a	n/a
14	KAP1	chr11:66246147-66248106	HEK293	kidney:	n/a	n/a
15	NR2F2	chr11:66246811-66248397	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:66246747-66248361	GM18505	blood:	n/a	n/a
17	MAX	chr11:66246330-66248565	A549	lung:	n/a	chr11:66248151-66248161
18	RCOR1	chr11:66245859-66248698	IMR90	lung:	n/a	n/a
19	POLR2A	chr11:66245718-66248327	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr11:66246001-66248451	PBDE	blood:	n/a	n/a
21	WRNIP1	chr11:66246399-66246891	GM12878	blood:	n/a	n/a
22	CTCF	chr11:66246860-66247010	GM06990	blood:	n/a	n/a
23	MAX	chr11:66246446-66248377	Hela-S3	cervix:	n/a	chr11:66248151-66248161
24	POLR2A	chr11:66246844-66248273	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:66246766-66248439	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:66246409-66248454	HL-60	blood:	n/a	n/a
27	POLR2A	chr11:66245145-66248294	HepG2	liver:	n/a	n/a
28	CTCF	chr11:66246830-66246879	Medullo	brain:	n/a	n/a
29	ZEB1	chr11:66246442-66246912	GM12878	blood:	n/a	chr11:66246606-66246618 chr11:66246627-66246636
30	POLR2A	chr11:66245951-66248460	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:66246454-66248645	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:66246813-66248163	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:66246026-66248268	Hela-S3	cervix:	n/a	n/a
34	SMARCB1	chr11:66246802-66248240	Hela-S3	cervix:	n/a	n/a
35	ATF2	chr11:66246169-66247029	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr11:66246857-66248290	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr11:66246445-66246909	HUVEC	blood vessel:	n/a	chr11:66246572-66246590 chr11:66246574-66246587 chr11:66246578-66246587 chr11:66246567-66246588
38	POLR2A	chr11:66246527-66248322	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr11:66246376-66248383	MCF-7	breast:	n/a	chr11:66248151-66248161
40	POLR2A	chr11:66246745-66248249	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr11:66243520-66248581	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr11:66245327-66248437	SK-N-SH	brain:	n/a	n/a
43	NFIC	chr11:66246773-66248412	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr11:66246188-66248302	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:66245084-66248443	U87	brain:	n/a	n/a
46	CTCF	chr11:66246836-66246922	GM10248	blood:	n/a	n/a
47	POLR2A	chr11:66246855-66248217	MCF-7	breast:	n/a	n/a
48	POLR2A	chr11:66246614-66248400	U87	brain:	n/a	n/a
49	ELF1	chr11:66246816-66247281	K562	blood:	n/a	chr11:66247156-66247168
50	POLR2A	chr11:66246078-66248449	HepG2	liver:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66206171..66206992-chr11:66246238..66247018,2	MCF-7	breast:
2	chr11:66246639..66249369-chr11:66359117..66362318,3	K562	blood:
3	chr11:66246687..66248934-chr11:66312384..66314818,3	MCF-7	breast:
4	chr11:66172930..66174467-chr11:66245243..66247350,2	K562	blood:
5	chr11:66246401..66248932-chr11:66382883..66386321,3	MCF-7	breast:
6	chr11:66245214..66247869-chr20:57470356..57473154,2	K562	blood:
7	chr11:66245898..66247692-chr11:66270786..66272292,2	MCF-7	breast:
8	chr11:66243721..66249369-chr11:66258892..66263387,7	MCF-7	breast:
9	chr11:66244873..66247008-chr11:66305651..66307290,2	K562	blood:
10	chr11:66246350..66248077-chr11:66269423..66272131,2	MCF-7	breast:
11	chr11:66204242..66206577-chr11:66245912..66248466,3	MCF-7	breast:
12	chr11:66245337..66248539-chr11:66443366..66447095,4	MCF-7	breast:
13	chr11:66176391..66179593-chr11:66244055..66247322,3	K562	blood:
14	chr11:66246466..66249447-chr11:66272733..66277215,5	MCF-7	breast:
15	chr11:66244175..66248389-chr11:66381997..66386853,5	MCF-7	breast:
16	chr11:66199319..66202048-chr11:66246044..66248401,2	MCF-7	breast:
17	chr11:66246010..66248115-chr21:9824220..9827166,2	MCF-7	breast:
18	chr11:66244850..66249884-chr11:66274125..66278778,6	MCF-7	breast:
19	chr11:66175572..66176782-chr11:66246086..66247068,8	K562	blood:
20	chr11:66246144..66249538-chr11:66312277..66316497,5	MCF-7	breast:
21	chr11:66206396..66207155-chr11:66246290..66246907,2	MCF-7	breast:
22	chr11:66204459..66208139-chr11:66244186..66247891,5	MCF-7	breast:
23	chr11:66183845..66188748-chr11:66244741..66247932,5	MCF-7	breast:
24	chr11:66175540..66176515-chr11:66246071..66247001,9	MCF-7	breast:
25	chr11:66246184..66249203-chr11:66383546..66385423,4	K562	blood:
26	chr11:66175946..66178663-chr11:66245836..66248085,2	MCF-7	breast:
27	chr11:66245983..66252638-chr11:66253022..66262739,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255517	TF binding region
DPP3	TF binding region
ENSG00000256349	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000174483	Chromatin interaction
ENSG00000254510	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000201733	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000087460	Chromatin interaction
ENSG00000174576	Chromatin interaction
ENSG00000173992	Chromatin interaction
ENSG00000264063	Chromatin interaction
ENSG00000182791	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000264462	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12807979	1.00[ASN][1000 genomes]
rs34775878	1.00[ASN][1000 genomes]
rs61890360	1.00[ASN][1000 genomes]
rs61890364	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890399	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic 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	37 gene(s)	inside rSNPs	diseases
8	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 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	chr11:66246000-66247000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:66246200-66247200	Flanking Active TSS	Dnd41	blood
3	chr11:66246400-66247000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:66246400-66247000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:66246400-66247000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr11:66246400-66247000	Flanking Active TSS	A549	lung
7	chr11:66246400-66247000	Flanking Active TSS	GM12878-XiMat	blood
8	chr11:66246400-66247000	Flanking Active TSS	HepG2	liver
9	chr11:66246400-66247200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:66246400-66247200	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr11:66246400-66247200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr11:66246400-66247200	Flanking Active TSS	Fetal Brain Female	brain
13	chr11:66246400-66247200	Flanking Active TSS	Osteobl	bone
14	chr11:66246400-66247400	Flanking Active TSS	HUVEC	blood vessel
15	chr11:66246400-66247600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr11:66246400-66247600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr11:66246400-66248200	Active TSS	NHDF-Ad	bronchial
18	chr11:66246400-66248400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:66246600-66247000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:66246600-66247000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:66246600-66247000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:66246600-66247000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:66246600-66247000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:66246600-66247000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:66246600-66247000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:66246600-66247000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:66246600-66247000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:66246600-66247000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:66246600-66247000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:66246600-66247000	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr11:66246600-66247000	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr11:66246600-66247000	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr11:66246600-66247000	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr11:66246600-66247000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr11:66246600-66247000	Flanking Active TSS	Fetal Heart	heart
36	chr11:66246600-66247000	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr11:66246600-66247000	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr11:66246600-66247000	Flanking Active TSS	Fetal Kidney	kidney
39	chr11:66246600-66247000	Flanking Active TSS	Fetal Lung	lung
40	chr11:66246600-66247000	Flanking Active TSS	Right Atrium	heart
41	chr11:66246600-66247000	Flanking Active TSS	Stomach Mucosa	stomach
42	chr11:66246600-66247000	Enhancers	Spleen	Spleen
43	chr11:66246600-66247000	Flanking Active TSS	HMEC	breast
44	chr11:66246600-66247000	Flanking Active TSS	HSMMtube	muscle
45	chr11:66246600-66247000	Flanking Active TSS	NHEK	skin
46	chr11:66246600-66247000	Flanking Active TSS	NHLF	lung
47	chr11:66246600-66247200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr11:66246600-66247200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:66246600-66247200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr11:66246600-66247200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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