Variant report

Variant	rs7932625
Chromosome Location	chr11:17526133-17526134
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	RAD21	chr11:17526068-17526529	H1-hESC	embryonic stem cell:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
2	NFATC1	chr11:17526044-17526465	GM12878	blood:	n/a	n/a
3	CTCF	chr11:17526043-17526459	H1-hESC	embryonic stem cell:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
4	CTCF	chr11:17526117-17526479	ECC-1	luminal epithelium:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
5	RAD21	chr11:17526075-17526490	HepG2	liver:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
6	CTCF	chr11:17526091-17526479	T-47D	breast:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
7	CTCF	chr11:17525547-17527313	SK-N-SH	brain:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
8	FOXM1	chr11:17526041-17526503	GM12878	blood:	n/a	n/a
9	SMC3	chr11:17525664-17526530	Hela-S3	cervix:	n/a	chr11:17526299-17526313 chr11:17526299-17526309
10	RAD21	chr11:17526007-17526507	Hela-S3	cervix:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
11	ZNF384	chr11:17526061-17526480	K562	blood:	n/a	n/a
12	CTCF	chr11:17525958-17526702	HCT-116	colon:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
13	RUNX3	chr11:17526066-17526431	GM12878	blood:	n/a	n/a
14	CTCF	chr11:17526059-17526499	A549	lung:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
15	RAD21	chr11:17525841-17526732	HCT-116	colon:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
16	RAD21	chr11:17526113-17526442	GM12878	blood:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
17	RCOR1	chr11:17526119-17526461	Hela-S3	cervix:	n/a	n/a
18	RAD21	chr11:17526031-17526592	A549	lung:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
19	RAD21	chr11:17525855-17526693	HCT-116	colon:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
20	CTCF	chr11:17526058-17526528	H1-hESC	embryonic stem cell:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
21	NFATC1	chr11:17526077-17526374	GM12878	blood:	n/a	n/a
22	ZNF143	chr11:17526122-17526479	GM12878	blood:	n/a	n/a
23	RAD21	chr11:17526121-17526438	K562	blood:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
24	RAD21	chr11:17526058-17526557	H1-hESC	embryonic stem cell:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
25	YY1	chr11:17526121-17526477	GM12878	blood:	n/a	chr11:17526335-17526346
26	RAD21	chr11:17525991-17526519	IMR90	lung:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
27	RAD21	chr11:17526114-17526399	GM12878	blood:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
28	RAD21	chr11:17526039-17526616	MCF-7	breast:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
29	CTCF	chr11:17526004-17526644	A549	lung:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
30	CTCF	chr11:17526093-17526521	IMR90	lung:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
31	JUN	chr11:17526125-17526374	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr11:17526094-17526488	A549	lung:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
33	RAD21	chr11:17525860-17526673	A549	lung:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
34	RAD21	chr11:17525972-17526583	SK-N-SH_RA	brain:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
35	CTCF	chr11:17526080-17526426	ECC-1	luminal epithelium:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
36	RAD21	chr11:17526057-17526514	SK-N-SH_RA	brain:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
37	RAD21	chr11:17526021-17526548	ECC-1	luminal epithelium:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
38	RAD21	chr11:17525720-17526942	SK-N-SH	brain:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
39	RFX5	chr11:17526132-17526547	Hela-S3	cervix:	n/a	n/a
40	RAD21	chr11:17525978-17526554	H1-hESC	embryonic stem cell:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
41	CTCF	chr11:17526005-17526524	MCF-7	breast:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
42	CTCF	chr11:17526026-17526592	K562	blood:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
43	CTCF	chr11:17526031-17526612	MCF-7	breast:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
44	RAD21	chr11:17525971-17526515	HepG2	liver:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
45	ZNF143	chr11:17526125-17526462	K562	blood:	n/a	n/a
46	RAD21	chr11:17526005-17526591	MCF-7	breast:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
47	RAD21	chr11:17525868-17526608	ECC-1	luminal epithelium:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
48	CTCF	chr11:17526122-17526401	HepG2	liver:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
49	ZNF384	chr11:17526049-17526490	GM12878	blood:	n/a	n/a
50	YY1	chr11:17526068-17526468	H1-hESC	embryonic stem cell:	n/a	chr11:17526335-17526346

No.	Distal block	Cell Line	Cell type
1	chr11:17494721..17495546-chr11:17525791..17526792,4	MCF-7	breast:
2	chr11:17403459..17406167-chr11:17526057..17528257,2	K562	blood:
3	chr11:17405017..17406217-chr11:17525833..17526983,7	K562	blood:
4	chr1:167298404..167299157-chr11:17525701..17526380,2	MCF-7	breast:
5	chr11:17433944..17434545-chr11:17525877..17526642,2	MCF-7	breast:
6	chr11:17410145..17410967-chr11:17525778..17526610,2	MCF-7	breast:
7	chr11:17404945..17405792-chr11:17525735..17526346,2	MCF-7	breast:
8	chr11:17495130..17495674-chr11:17525856..17526382,2	K562	blood:
9	chr11:17494705..17495611-chr11:17525425..17526663,5	MCF-7	breast:
10	chr11:17403459..17408423-chr11:17525899..17528813,5	K562	blood:
11	chr11:17407309..17407849-chr11:17525524..17526306,2	MCF-7	breast:
12	chr11:17407536..17408857-chr11:17525786..17526735,11	MCF-7	breast:
13	chr11:17404429..17405006-chr11:17525398..17526266,2	K562	blood:
14	chr11:17376027..17378352-chr11:17525355..17527970,2	K562	blood:
15	chr11:17251338..17252303-chr11:17525826..17526790,3	K562	blood:
16	chr11:17407872..17408796-chr11:17525866..17526775,6	MCF-7	breast:
17	chr11:17405126..17405972-chr11:17525824..17526796,7	MCF-7	breast:

Variant related genes	Relation type
USH1C	TF binding region
ENSG00000187486	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16914878	1.00[AMR][1000 genomes]
rs16934140	1.00[AMR][1000 genomes]
rs2057662	1.00[AMR][1000 genomes]
rs55843567	1.00[AMR][1000 genomes]
rs55976946	1.00[AMR][1000 genomes]
rs7114610	1.00[AMR][1000 genomes]
rs7130364	1.00[AMR][1000 genomes]
rs7934333	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17512600-17530000	Weak transcription	Right Atrium	heart
2	chr11:17513600-17530600	Strong transcription	Fetal Intestine Small	intestine
3	chr11:17516800-17529600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:17516800-17553000	Weak transcription	Stomach Mucosa	stomach
5	chr11:17520000-17528600	Weak transcription	Gastric	stomach
6	chr11:17521400-17529800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:17521800-17529800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:17522600-17531800	Weak transcription	Colonic Mucosa	Colon
9	chr11:17522800-17531200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:17523000-17527600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:17523600-17526600	Enhancers	Dnd41	blood
12	chr11:17524600-17528400	Weak transcription	Fetal Intestine Large	intestine
13	chr11:17525000-17527600	Weak transcription	Spleen	Spleen
14	chr11:17525400-17526400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:17525400-17533600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:17525600-17526200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:17525600-17526200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:17525600-17526800	Enhancers	HSMMtube	muscle
19	chr11:17525600-17527000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:17525800-17526600	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:17525800-17526800	Enhancers	Colon Smooth Muscle	Colon
22	chr11:17525800-17527000	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:17526000-17526200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:17526000-17526200	Enhancers	Pancreas	Pancrea
25	chr11:17526000-17526600	Enhancers	Brain Angular Gyrus	brain
26	chr11:17526000-17526600	Enhancers	Brain Hippocampus Middle	brain
27	chr11:17526000-17526600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr11:17526000-17526600	Enhancers	Brain Substantia Nigra	brain
29	chr11:17526000-17527000	Enhancers	Fetal Heart	heart
30	chr11:17526000-17527200	Enhancers	Fetal Muscle Leg	muscle

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