Variant report

Variant	rs684372
Chromosome Location	chr11:65620313-65620314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65618205-65621374	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:65618176-65621604	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr11:65619231-65621699	ProgFib	skin:	n/a	n/a
4	POLR2A	chr11:65617874-65621688	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:65617944-65626197	K562	blood:	n/a	n/a
6	JUND	chr11:65619387-65621718	A549	lung:	n/a	n/a
7	POLR2A	chr11:65617092-65633870	K562	blood:	n/a	n/a
8	POLR2A	chr11:65617861-65622588	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:65619922-65620318	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:65617610-65622326	U87	brain:	n/a	n/a
11	STAT5A	chr11:65617594-65621817	GM12878	blood:	n/a	chr11:65621189-65621201 chr11:65620481-65620493 chr11:65620300-65620312 chr11:65619537-65619549
12	BCL3	chr11:65619738-65620699	K562	blood:	n/a	chr11:65620513-65620527
13	POLR2A	chr11:65619865-65620569	HCT-116	colon:	n/a	n/a
14	POLR2A	chr11:65619291-65621340	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:65620128-65620719	SK-N-MC	brain:	n/a	n/a
16	PBX3	chr11:65618265-65621198	A549	lung:	n/a	n/a
17	BCL3	chr11:65619520-65621767	K562	blood:	n/a	chr11:65620513-65620527
18	POLR2A	chr11:65616755-65639999	U87	brain:	n/a	n/a
19	BCLAF1	chr11:65617809-65621274	GM12878	blood:	n/a	chr11:65619383-65619392 chr11:65620513-65620527
20	PBX3	chr11:65620178-65620363	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:65617198-65628973	PANC-1	pancreas:	n/a	n/a
22	POU2F2	chr11:65617565-65621436	GM12891	blood:	n/a	chr11:65618184-65618196
23	MTA3	chr11:65617490-65622077	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:65619310-65621416	GM18505	blood:	n/a	n/a
25	POLR2A	chr11:65616680-65621992	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr11:65617082-65622141	SK-N-SH	brain:	n/a	n/a
27	ELF1	chr11:65619954-65620393	K562	blood:	n/a	n/a
28	POLR2A	chr11:65619124-65621430	A549	lung:	n/a	n/a
29	POLR2A	chr11:65618517-65622566	PFSK-1	brain:	n/a	n/a
30	ATF2	chr11:65619871-65620580	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:65618005-65623075	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr11:65617909-65621687	K562	blood:	n/a	n/a
33	POU2F2	chr11:65619951-65620386	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:65616526-65621240	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr11:65617784-65622663	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr11:65617323-65622533	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:65617465-65622308	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr11:65617215-65622257	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:65617118-65622730	Hela-S3	cervix:	n/a	n/a
40	NFATC1	chr11:65617496-65621690	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:65617531-65622640	HUVEC	blood vessel:	n/a	n/a
42	SIN3AK20	chr11:65619427-65621138	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr11:65618467-65622327	HL-60	blood:	n/a	n/a
44	POLR2A	chr11:65616422-65629961	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr11:65616827-65622249	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:65617007-65628594	GM12891	blood:	n/a	n/a
47	POLR2A	chr11:65617073-65630131	GM12892	blood:	n/a	n/a
48	POLR2A	chr11:65620076-65621267	GM19099	blood:	n/a	n/a
49	POLR2A	chr11:65617574-65622131	ECC-1	luminal epithelium:	n/a	n/a
50	POU2F2	chr11:65617816-65621346	GM12891	blood:	n/a	chr11:65618184-65618196

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
2	chr11:65575640..65578882-chr11:65620145..65623092,3	K562	blood:
3	chr11:65619003..65621233-chr17:57969313..57971399,2	MCF-7	breast:
4	chr11:65546212..65549876-chr11:65617046..65620737,6	K562	blood:
5	chr11:65487937..65492016-chr11:65617562..65620782,3	K562	blood:
6	chr11:65420138..65422811-chr11:65618925..65621188,2	MCF-7	breast:
7	chr11:65546025..65550310-chr11:65619401..65621382,3	MCF-7	breast:
8	chr11:65478418..65480569-chr11:65618889..65621389,2	MCF-7	breast:
9	chr11:65458517..65461171-chr11:65617929..65620482,3	K562	blood:
10	chr11:65483513..65485450-chr11:65617961..65620505,2	K562	blood:
11	chr11:65413383..65416233-chr11:65619379..65620963,2	K562	blood:
12	chr11:65433762..65436512-chr11:65619664..65621687,2	K562	blood:
13	chr11:65611275..65613283-chr11:65617372..65621418,7	MCF-7	breast:
14	chr11:65618700..65620627-chr16:1827740..1830544,2	K562	blood:
15	chr11:65397945..65399959-chr11:65620228..65622246,2	K562	blood:
16	chr11:65534494..65538893-chr11:65617709..65620478,3	K562	blood:
17	chr11:65428851..65430818-chr11:65617793..65620383,2	K562	blood:
18	chr11:65583886..65587148-chr11:65616110..65620547,4	K562	blood:
19	chr11:65458517..65460598-chr11:65618982..65621135,2	K562	blood:
20	chr11:65616798..65622478-chr11:65727555..65733013,6	MCF-7	breast:
21	chr11:65619884..65621814-chr11:65847924..65850674,2	K562	blood:
22	chr11:65517753..65520612-chr11:65618673..65621120,3	K562	blood:
23	chr11:65417859..65419451-chr11:65619864..65621650,2	K562	blood:
24	chr11:65486395..65489048-chr11:65619139..65622077,3	MCF-7	breast:
25	chr11:65619783..65621491-chr7:142573464..142574983,3	K562	blood:
26	chr11:65419749..65421544-chr11:65619429..65621051,2	K562	blood:
27	chr11:65581685..65583304-chr11:65617806..65620424,2	K562	blood:
28	chr11:65478964..65482539-chr11:65616975..65622123,6	K562	blood:
29	chr11:65619455..65621376-chr7:142573464..142574964,2	K562	blood:
30	chr11:65551772..65558003-chr11:65616174..65621833,7	K562	blood:
31	chr11:65484120..65486209-chr11:65619696..65622078,2	MCF-7	breast:
32	chr11:65581685..65586123-chr11:65617566..65620999,8	K562	blood:
33	chr11:65551772..65554521-chr11:65617605..65621085,3	K562	blood:
34	chr11:65340642..65343423-chr11:65617979..65623594,4	K562	blood:
35	chr11:65608334..65610951-chr11:65618623..65621580,2	MCF-7	breast:
36	chr11:65430893..65432531-chr11:65618937..65620451,2	K562	blood:

No data

Variant related genes	Relation type
MUS81	TF binding region
ENSG00000175827	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000255120	Chromatin interaction
ENSG00000224970	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000165125	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000172818	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11227385	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs575085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61740577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv897763	chr11:65613348-65644027	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65602200-65623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:65604400-65621200	Weak transcription	HSMMtube	muscle
3	chr11:65616800-65625000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:65617000-65620400	Weak transcription	HUVEC	blood vessel
5	chr11:65617000-65622000	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:65617200-65621600	Weak transcription	Fetal Kidney	kidney
7	chr11:65617600-65620800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:65617600-65620800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:65618000-65621000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:65618000-65621000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:65618000-65621000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr11:65618000-65621400	Strong transcription	A549	lung
13	chr11:65618000-65621600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:65618000-65621600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:65618000-65624000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:65618000-65624600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:65618200-65621000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:65618200-65621200	ZNF genes & repeats	Thymus	Thymus
19	chr11:65618200-65622000	Strong transcription	NHLF	lung
20	chr11:65618200-65622400	Strong transcription	Primary B cells from cord blood	blood
21	chr11:65618200-65623200	Strong transcription	Right Ventricle	heart
22	chr11:65618200-65623800	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr11:65618400-65620800	Strong transcription	Rectal Smooth Muscle	rectum
24	chr11:65618400-65621000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:65618400-65621200	ZNF genes & repeats	GM12878-XiMat	blood
26	chr11:65618400-65621800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:65618400-65622400	Weak transcription	Fetal Brain Male	brain
28	chr11:65618400-65622600	Strong transcription	Primary T cells from cord blood	blood
29	chr11:65618400-65623000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:65618600-65620400	ZNF genes & repeats	Fetal Thymus	thymus
31	chr11:65618600-65620600	Weak transcription	Brain Substantia Nigra	brain
32	chr11:65618600-65620800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:65618600-65620800	Weak transcription	HepG2	liver
34	chr11:65618600-65621200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:65618600-65622800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:65618600-65623000	Strong transcription	Brain Hippocampus Middle	brain
37	chr11:65618600-65623000	Strong transcription	Pancreas	Pancrea
38	chr11:65618600-65623200	Strong transcription	Osteobl	bone
39	chr11:65618600-65623400	Strong transcription	Brain Angular Gyrus	brain
40	chr11:65618800-65620600	Strong transcription	Brain Anterior Caudate	brain
41	chr11:65618800-65620600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:65618800-65620800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:65618800-65621600	Weak transcription	Psoas Muscle	Psoas
44	chr11:65618800-65622400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr11:65618800-65622800	Genic enhancers	Fetal Intestine Large	intestine
46	chr11:65618800-65623000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:65618800-65623000	Strong transcription	Left Ventricle	heart
48	chr11:65619000-65620400	Genic enhancers	Rectal Mucosa Donor 31	rectum
49	chr11:65619000-65620600	Genic enhancers	Rectal Mucosa Donor 29	rectum
50	chr11:65619000-65620800	Strong transcription	Primary B cells from peripheral blood	blood

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