Variant report

Variant	rs73497617
Chromosome Location	chr11:76909838-76909839
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:76909697-76909916	GM19239	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
2	USF1	chr11:76909615-76909863	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr11:76909647-76909895	K562	blood:	n/a	n/a
4	ZMIZ1	chr11:76909693-76909952	K562	blood:	n/a	n/a
5	SMC3	chr11:76909688-76909927	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr11:76909653-76909929	A549	lung:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
7	MAX	chr11:76909595-76909969	K562	blood:	n/a	n/a
8	CTCF	chr11:76909720-76909870	HMF	breast:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
9	CTCF	chr11:76909720-76909870	A549	lung:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
10	BHLHE40	chr11:76909610-76909945	HepG2	liver:	n/a	n/a
11	CTCF	chr11:76909760-76909910	HPF	lung:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
12	CTCF	chr11:76909760-76909910	GM12875	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
13	CTCF	chr11:76909800-76909950	HMF	breast:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
14	CTCF	chr11:76909820-76909970	WI-38	lung:	n/a	n/a
15	USF2	chr11:76909734-76909895	GM12878	blood:	n/a	n/a
16	CTCF	chr11:76909624-76910012	HepG2	liver:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
17	CTCF	chr11:76909720-76909870	GM12873	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
18	CTCF	chr11:76909760-76909910	HCPEpiC	choroid plexus:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
19	CTCF	chr11:76909751-76909883	Spleen_OC	spleen:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
20	MYC	chr11:76909607-76909948	K562	blood:	n/a	n/a
21	CTCF	chr11:76909780-76909930	AoAF	blood vessel:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
22	CTCF	chr11:76909720-76909870	Hela-S3	cervix:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
23	MAZ	chr11:76909620-76909923	K562	blood:	n/a	n/a
24	CTCF	chr11:76909760-76909910	A549	lung:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
25	CTCF	chr11:76909632-76909944	A549	lung:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
26	MAX	chr11:76909603-76909932	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr11:76909699-76909923	SK-N-SH_RA	brain:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
28	CTCF	chr11:76909740-76909890	BE2_C	brain:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
29	CTCF	chr11:76909626-76910021	K562	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
30	CTCF	chr11:76909740-76909890	WERI-Rb-1	eye:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
31	BHLHE40	chr11:76909631-76909943	GM12878	blood:	n/a	n/a
32	CTCF	chr11:76909681-76909946	GM12891	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
33	CTCF	chr11:76909720-76909870	HFF-Myc	foreskin:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
34	CTCF	chr11:76909677-76909939	GM12892	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
35	RAD21	chr11:76909591-76910014	HepG2	liver:	n/a	chr11:76909814-76909833
36	CTCF	chr11:76909740-76909890	HepG2	liver:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
37	CTCF	chr11:76909740-76909890	SAEC	small airway:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
38	RAD21	chr11:76909728-76909877	K562	blood:	n/a	chr11:76909814-76909833
39	CTCF	chr11:76909740-76909890	GM12868	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
40	CTCF	chr11:76909720-76909870	GM12875	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
41	CTCF	chr11:76909800-76909950	GM12865	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
42	CTCF	chr11:76909720-76909870	GM12871	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
43	CTCF	chr11:76909760-76909910	Caco-2	colon:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
44	MAX	chr11:76909479-76910002	H1-hESC	embryonic stem cell:	n/a	n/a
45	HCFC1	chr11:76909660-76909921	K562	blood:	n/a	n/a
46	CTCF	chr11:76909578-76910013	H1-hESC	embryonic stem cell:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
47	USF1	chr11:76909539-76909911	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr11:76909425-76910021	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:76909700-76909850	BJ	skin:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831
50	CTCF	chr11:76909740-76909890	GM12871	blood:	n/a	chr11:76909811-76909832 chr11:76909816-76909834 chr11:76909818-76909831

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76838050..76838792-chr11:76909788..76910357,2	K562	blood:
2	chr11:76907456..76910325-chr11:76914142..76917055,2	MCF-7	breast:

Variant related genes	Relation type
MYO7A	TF binding region
ENSG00000137474	Chromatin interaction

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

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

rs_ID	r²[population]
rs10466708	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11237112	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12286111	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55655554	1.00[EUR][1000 genomes]
rs55843987	0.82[EUR][1000 genomes]
rs73495787	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73497622	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs867506	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs867716	1.00[EUR][1000 genomes]
rs883742	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816632	chr11:76751285-76927014	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv897936	chr11:76900813-76935002	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76880400-76916600	Weak transcription	Right Atrium	heart
2	chr11:76890800-76918400	Weak transcription	Ovary	ovary
3	chr11:76899800-76928200	Strong transcription	Liver	Liver
4	chr11:76903600-76928000	Weak transcription	Colonic Mucosa	Colon
5	chr11:76903600-76928600	Strong transcription	Fetal Intestine Small	intestine
6	chr11:76904000-76910600	Weak transcription	HepG2	liver
7	chr11:76904200-76927600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:76904600-76913200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:76904600-76915600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:76904600-76927800	Strong transcription	Fetal Intestine Large	intestine
11	chr11:76906600-76913200	Weak transcription	Fetal Stomach	stomach
12	chr11:76906600-76915600	Weak transcription	Right Ventricle	heart
13	chr11:76907000-76911600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:76907000-76918800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:76907400-76911400	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:76908000-76910200	Strong transcription	Adipose Nuclei	Adipose
17	chr11:76908000-76912600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:76908400-76914000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:76908400-76914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:76908400-76922400	Weak transcription	Gastric	stomach
21	chr11:76908400-76928200	Strong transcription	Spleen	Spleen
22	chr11:76908600-76910000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:76909600-76910000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:76909600-76910600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:76909800-76910400	Strong transcription	Pancreas	Pancrea
26	chr11:76909800-76911400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:76909800-76913600	Strong transcription	Placenta	Placenta
28	chr11:76909800-76914400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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