Variant report

Variant	rs17146417
Chromosome Location	chr11:64644765-64644766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:64644208-64644826	Hela-S3	cervix:	n/a	n/a
2	RFX5	chr11:64644279-64644866	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr11:64644382-64644828	Hela-S3	cervix:	n/a	n/a
4	WRNIP1	chr11:64643992-64646466	GM12878	blood:	n/a	n/a
5	RCOR1	chr11:64644050-64647190	IMR90	lung:	n/a	n/a
6	USF2	chr11:64644378-64644830	Hela-S3	cervix:	n/a	n/a
7	NFIC	chr11:64644072-64644811	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr11:64644337-64645053	Hela-S3	cervix:	n/a	n/a
9	ZBTB7A	chr11:64644214-64646294	ECC-1	luminal epithelium:	n/a	chr11:64646077-64646086
10	POLR2A	chr11:64644259-64646897	ProgFib	skin:	n/a	n/a
11	MAZ	chr11:64644361-64645154	Hela-S3	cervix:	n/a	n/a
12	ESR1	chr11:64644166-64644834	ECC-1	luminal epithelium:	n/a	chr11:64644436-64644453 chr11:64644437-64644452 chr11:64644437-64644454
13	TFAP2A	chr11:64644190-64645315	Hela-S3	cervix:	n/a	chr11:64645179-64645191 chr11:64644909-64644920 chr11:64644908-64644920 chr11:64644908-64644920 chr11:64644908-64644920 chr11:64644627-64644638
14	MXI1	chr11:64644376-64647063	GM12878	blood:	n/a	n/a
15	ESR1	chr11:64644141-64644845	ECC-1	luminal epithelium:	n/a	chr11:64644436-64644453 chr11:64644437-64644452 chr11:64644437-64644454
16	TCF7L2	chr11:64644181-64645017	Hela-S3	cervix:	n/a	n/a
17	ESR1	chr11:64644229-64644816	ECC-1	luminal epithelium:	n/a	chr11:64644436-64644453 chr11:64644437-64644452 chr11:64644437-64644454
18	POLR2A	chr11:64643014-64646953	GM12878	blood:	n/a	n/a
19	EP300	chr11:64644115-64644855	MCF-7	breast:	n/a	n/a
20	MTA3	chr11:64642909-64647630	GM12878	blood:	n/a	n/a
21	MXI1	chr11:64642996-64647031	IMR90	lung:	n/a	n/a
22	POLR2A	chr11:64644306-64647272	GM19193	blood:	n/a	n/a
23	FOXA1	chr11:64644183-64644846	T-47D	breast:	n/a	n/a
24	POLR2A	chr11:64644153-64646668	Hela-S3	cervix:	n/a	n/a
25	MAZ	chr11:64643035-64647566	IMR90	lung:	n/a	n/a
26	CHD1	chr11:64641789-64647512	IMR90	lung:	n/a	n/a
27	BHLHE40	chr11:64644658-64645216	GM12878	blood:	n/a	n/a
28	HDAC2	chr11:64644280-64645010	MCF-7	breast:	n/a	n/a
29	EP300	chr11:64644101-64645070	ECC-1	luminal epithelium:	n/a	n/a
30	TCF12	chr11:64644021-64644954	ECC-1	luminal epithelium:	n/a	n/a
31	FOXM1	chr11:64644762-64645342	GM12878	blood:	n/a	n/a
32	MXI1	chr11:64644051-64647757	SK-N-SH	brain:	n/a	n/a
33	RUNX3	chr11:64644254-64647285	GM12878	blood:	n/a	n/a
34	FOXM1	chr11:64644683-64645272	GM12878	blood:	n/a	n/a
35	YY1	chr11:64644714-64645145	GM12878	blood:	n/a	n/a
36	ESR1	chr11:64644157-64644844	ECC-1	luminal epithelium:	n/a	chr11:64644436-64644453 chr11:64644437-64644452 chr11:64644437-64644454
37	POLR2A	chr11:64643880-64645392	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:64644325-64647208	GM12892	blood:	n/a	n/a
39	POLR2A	chr11:64644227-64644876	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:64642961-64647533	GM12878	blood:	n/a	n/a
41	EBF1	chr11:64644657-64645296	GM12878	blood:	n/a	chr11:64645049-64645060 chr11:64645050-64645059 chr11:64645050-64645060
42	POLR2A	chr11:64644592-64645201	U87	brain:	n/a	n/a
43	SRF	chr11:64644033-64644803	MCF-7	breast:	n/a	n/a
44	POLR2A	chr11:64642979-64647281	GM12891	blood:	n/a	n/a
45	POLR2A	chr11:64644201-64644969	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:64644709-64647244	PBDE	blood:	n/a	n/a
47	POLR2A	chr11:64644539-64645357	GM12892	blood:	n/a	n/a
48	TCF12	chr11:64644041-64644943	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr11:64644498-64645112	K562	blood:	n/a	n/a
50	TBP	chr11:64644729-64645319	GM12878	blood:	n/a	n/a

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64644496..64646920-chr11:64764507..64767051,3	K562	blood:
2	chr11:64576838..64579724-chr11:64644602..64648695,4	K562	blood:
3	chr11:64643787..64646984-chr11:64875593..64882466,11	MCF-7	breast:
4	chr11:64644179..64646943-chr11:64683100..64687957,8	MCF-7	breast:
5	chr11:64566980..64568493-chr11:64644627..64647594,2	MCF-7	breast:
6	chr11:64489296..64491902-chr11:64644473..64646300,2	MCF-7	breast:
7	chr11:64643589..64645871-chr11:64883152..64885290,3	K562	blood:
8	chr11:64642728..64645310-chr11:64936212..64940521,3	K562	blood:
9	chr11:64644621..64647085-chr11:64869842..64873650,4	MCF-7	breast:
10	chr11:64643788..64647961-chr11:64848883..64851896,4	K562	blood:
11	chr11:64643878..64648186-chr11:64793107..64797470,5	K562	blood:
12	chr11:64644520..64646273-chr11:64683342..64685362,3	MCF-7	breast:
13	chr11:64598378..64602131-chr11:64643786..64647178,3	K562	blood:
14	chr11:64568225..64570801-chr11:64644714..64647592,2	MCF-7	breast:
15	chr11:64544833..64546350-chr11:64643462..64646283,2	K562	blood:
16	chr11:64578009..64579724-chr11:64644602..64647037,2	K562	blood:
17	chr11:64643590..64647956-chr11:64883297..64887661,6	MCF-7	breast:
18	chr11:64643435..64646351-chr11:64890486..64893627,3	K562	blood:
19	chr11:64644503..64648099-chr11:64683052..64686363,9	K562	blood:
20	chr11:64644475..64647391-chr11:64946794..64949864,4	K562	blood:
21	chr11:64575575..64578460-chr11:64644399..64646025,3	MCF-7	breast:
22	chr11:64644648..64646149-chr11:64852476..64854664,2	K562	blood:
23	chr11:64643973..64646390-chr11:64783747..64786510,2	MCF-7	breast:
24	chr11:64644499..64647040-chr17:57916781..57919732,2	MCF-7	breast:
25	chr11:64642261..64647543-chr11:64882719..64886329,5	MCF-7	breast:
26	chr11:64642970..64646207-chr11:64900095..64903878,3	K562	blood:
27	chr11:64644520..64646761-chr11:64879281..64881959,2	K562	blood:
28	chr11:64568638..64571349-chr11:64644530..64646635,3	MCF-7	breast:
29	chr11:64644663..64647408-chr11:64807363..64809566,4	MCF-7	breast:
30	chr11:64644628..64647764-chr11:64688767..64693294,4	K562	blood:
31	chr11:64644760..64647431-chr11:64850066..64853139,4	K562	blood:
32	chr11:64644764..64647368-chr11:64690531..64692792,2	K562	blood:
33	chr11:64642873..64648975-chr11:64779425..64783727,9	MCF-7	breast:
34	chr11:64644462..64647222-chr11:64847025..64851524,4	MCF-7	breast:

No data

Variant related genes	Relation type
EHD1	TF binding region
ENSG00000230835	TF binding region
ENSG00000149809	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000199004	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11231863	1.00[EUR][1000 genomes]
rs12271728	1.00[EUR][1000 genomes]
rs12278771	1.00[EUR][1000 genomes]
rs12280878	1.00[EUR][1000 genomes]
rs12285502	1.00[EUR][1000 genomes]
rs2959658	1.00[AMR][1000 genomes]
rs7127422	1.00[AMR][1000 genomes]
rs71526475	1.00[EUR][1000 genomes]
rs71579856	1.00[EUR][1000 genomes]
rs71579878	1.00[EUR][1000 genomes]
rs71581787	1.00[EUR][1000 genomes]
rs71583703	1.00[EUR][1000 genomes]
rs7927181	1.00[EUR][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	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv360	chr11:64632395-64659636	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1003 gene(s)	inside rSNPs	diseases
10	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64626400-64644800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:64641800-64645000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
3	chr11:64641800-64645000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:64641800-64645400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr11:64641800-64645400	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr11:64641800-64646000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:64641800-64646000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
8	chr11:64642000-64644800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:64642000-64645400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr11:64642000-64646000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
11	chr11:64642200-64644800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:64642200-64645800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:64642400-64645400	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:64642400-64645600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr11:64642400-64646000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr11:64642600-64645200	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:64642600-64646400	Active TSS	HSMMtube	muscle
18	chr11:64642600-64646800	Active TSS	GM12878-XiMat	blood
19	chr11:64642800-64645400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr11:64642800-64645600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr11:64643000-64644800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:64643000-64645000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:64643000-64645000	Flanking Active TSS	Colonic Mucosa	Colon
24	chr11:64643000-64645000	Flanking Active TSS	HUVEC	blood vessel
25	chr11:64643000-64645000	Flanking Active TSS	Osteobl	bone
26	chr11:64643000-64645200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:64643000-64645200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:64643000-64645200	Flanking Active TSS	Psoas Muscle	Psoas
29	chr11:64643000-64645200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:64643000-64645200	Flanking Active TSS	Hela-S3	cervix
31	chr11:64643000-64645400	Flanking Active TSS	Fetal Brain Female	brain
32	chr11:64643000-64645600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr11:64643000-64645800	Flanking Active TSS	Liver	Liver
34	chr11:64643200-64644800	Flanking Active TSS	Left Ventricle	heart
35	chr11:64643200-64645000	Flanking Active TSS	Right Ventricle	heart
36	chr11:64643200-64645000	Flanking Active TSS	NH-A	brain
37	chr11:64643200-64645200	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr11:64643200-64645400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:64643200-64645400	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr11:64643200-64645400	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr11:64643200-64645400	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr11:64643200-64645800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr11:64643400-64644800	Flanking Active TSS	Fetal Heart	heart
44	chr11:64643400-64645200	Flanking Active TSS	Fetal Brain Male	brain
45	chr11:64643400-64645400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr11:64643400-64645400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr11:64643400-64645800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:64643400-64646000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:64643400-64647000	Active TSS	Aorta	Aorta
50	chr11:64643600-64645600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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