Variant report

Variant	rs60055533
Chromosome Location	chr11:17570120-17570121
allele	C/T
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	SMC3	chr11:17570068-17570345	Hela-S3	cervix:	n/a	chr11:17570199-17570213
2	CTCF	chr11:17570080-17570230	GM12864	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
3	CTCF	chr11:17570080-17570230	GM12875	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
4	RAD21	chr11:17569935-17570376	H1-hESC	embryonic stem cell:	n/a	chr11:17570202-17570211
5	ZNF143	chr11:17570099-17570338	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:17570120-17570270	HAc	cerebellar:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
7	CTCF	chr11:17569992-17570382	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
8	CTCF	chr11:17570100-17570250	SK-N-SH_RA	brain:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
9	CTCF	chr11:17570100-17570250	HEK293	kidney:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
10	CTCF	chr11:17570062-17570251	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
11	CTCF	chr11:17570080-17570230	NB4	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
12	CTCF	chr11:17570020-17570170	BJ	skin:	n/a	n/a
13	CTCF	chr11:17570100-17570250	HRPEpiC	eye:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
14	CTCF	chr11:17570100-17570250	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
15	CTCF	chr11:17570100-17570250	HMF	breast:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
16	RAD21	chr11:17570097-17570254	SK-N-SH_RA	brain:	n/a	chr11:17570202-17570211
17	CTCF	chr11:17570106-17570265	H1-hESC	embryonic stem cell:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
18	CTCF	chr11:17569961-17570390	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
19	CTCF	chr11:17570120-17570270	BE2_C	brain:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
20	CTCF	chr11:17570100-17570250	HCM	heart:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
21	CTCF	chr11:17570080-17570230	HFF-Myc	foreskin:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
22	TEAD4	chr11:17570035-17570399	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:17570000-17570150	GM12864	blood:	n/a	n/a
24	CTCF	chr11:17570080-17570230	GM12869	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
25	CTCF	chr11:17570100-17570250	NHEK	skin:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
26	CTCF	chr11:17570100-17570250	HepG2	liver:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
27	CTCF	chr11:17570100-17570250	HCFaa	heart:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
28	CTCF	chr11:17570100-17570250	HCPEpiC	choroid plexus:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
29	CTCF	chr11:17570100-17570250	Hela-S3	cervix:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
30	CTCF	chr11:17570120-17570270	HBMEC	blood vessel:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
31	CTCF	chr11:17570100-17570250	HBMEC	blood vessel:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
32	CTCF	chr11:17570120-17570270	RPTEC	kidney:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
33	RAD21	chr11:17570011-17570394	H1-hESC	embryonic stem cell:	n/a	chr11:17570202-17570211
34	TEAD4	chr11:17570011-17570325	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:17570100-17570250	GM12873	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
36	CTCF	chr11:17570080-17570230	GM12878	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
37	MAFK	chr11:17570050-17570262	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr11:17570055-17570373	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
39	CTCF	chr11:17570094-17570279	HepG2	liver:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
40	CTCF	chr11:17570117-17570296	K562	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
41	CTCF	chr11:17570080-17570230	GM12865	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
42	CTCF	chr11:17570120-17570270	GM06990	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
43	CTCF	chr11:17570080-17570230	GM12873	blood:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
44	CTCF	chr11:17570107-17570276	MCF-7	breast:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
45	RAD21	chr11:17570090-17570241	K562	blood:	n/a	chr11:17570202-17570211
46	RAD21	chr11:17570057-17570280	K562	blood:	n/a	chr11:17570202-17570211
47	CTCF	chr11:17570080-17570230	HEEpiC	esophagus:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
48	CTCF	chr11:17570120-17570270	Caco-2	colon:	n/a	chr11:17570198-17570208 chr11:17570201-17570210
49	RAD21	chr11:17570059-17570355	Hela-S3	cervix:	n/a	chr11:17570202-17570211
50	CTCF	chr11:17570100-17570250	HMEC	breast:	n/a	chr11:17570198-17570208 chr11:17570201-17570210

No.	Distal block	Cell Line	Cell type
1	chr11:17567135..17572180-chr11:17576316..17581948,6	K562	blood:
2	chr11:17569821..17570438-chr11:17586271..17587120,2	MCF-7	breast:
3	chr11:17563988..17566643-chr11:17568666..17571231,2	MCF-7	breast:

Variant related genes	Relation type
USH1C	TF binding region
ENSG00000006611	Chromatin interaction
ENSG00000188162	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56189397	1.00[AMR][1000 genomes]
rs57428670	1.00[AMR][1000 genomes]
rs58189579	1.00[AMR][1000 genomes]
rs58422362	1.00[AMR][1000 genomes]
rs58448442	1.00[AMR][1000 genomes]
rs61734214	1.00[AMR][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv7693	chr11:17556788-17601771	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv553586	chr11:17559018-17599093	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3423573	chr11:17569796-17570125	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17565800-17571000	Weak transcription	Right Atrium	heart
2	chr11:17566200-17570400	Weak transcription	Pancreas	Pancrea
3	chr11:17568600-17571000	Enhancers	Fetal Intestine Small	intestine
4	chr11:17569200-17572200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:17569200-17576600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:17569400-17570200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:17569600-17571200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:17569600-17572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:17569600-17574000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:17570000-17570200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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