Variant report

Variant	rs11024312
Chromosome Location	chr11:17525965-17525966
allele	A/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	chr11:17525547-17527313	SK-N-SH	brain:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
2	SMC3	chr11:17525664-17526530	Hela-S3	cervix:	n/a	chr11:17526299-17526313 chr11:17526299-17526309
3	CTCF	chr11:17525958-17526702	HCT-116	colon:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
4	RAD21	chr11:17525841-17526732	HCT-116	colon:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
5	RAD21	chr11:17525855-17526693	HCT-116	colon:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
6	CTCF	chr11:17525820-17525970	GM12868	blood:	n/a	n/a
7	RAD21	chr11:17525860-17526673	A549	lung:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
8	CTCF	chr11:17525860-17526010	GM12865	blood:	n/a	n/a
9	RAD21	chr11:17525720-17526942	SK-N-SH	brain:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
10	RAD21	chr11:17525868-17526608	ECC-1	luminal epithelium:	n/a	chr11:17526298-17526311 chr11:17526299-17526309 chr11:17526295-17526314 chr11:17526297-17526309
11	CTCF	chr11:17525793-17526724	HCT-116	colon:	n/a	chr11:17526292-17526313 chr11:17526297-17526315 chr11:17526300-17526310 chr11:17526303-17526312 chr11:17526299-17526312
12	SMC3	chr11:17525742-17526891	SK-N-SH	brain:	n/a	chr11:17526299-17526313 chr11:17526299-17526309

No.	Distal block	Cell Line	Cell type
1	chr11:17494721..17495546-chr11:17525791..17526792,4	MCF-7	breast:
2	chr11:17405017..17406217-chr11:17525833..17526983,7	K562	blood:
3	chr1:167298404..167299157-chr11:17525701..17526380,2	MCF-7	breast:
4	chr11:17433944..17434545-chr11:17525877..17526642,2	MCF-7	breast:
5	chr11:17410145..17410967-chr11:17525778..17526610,2	MCF-7	breast:
6	chr11:17404945..17405792-chr11:17525735..17526346,2	MCF-7	breast:
7	chr11:17495130..17495674-chr11:17525856..17526382,2	K562	blood:
8	chr11:17494705..17495611-chr11:17525425..17526663,5	MCF-7	breast:
9	chr11:17403459..17408423-chr11:17525899..17528813,5	K562	blood:
10	chr11:17407309..17407849-chr11:17525524..17526306,2	MCF-7	breast:
11	chr11:17407536..17408857-chr11:17525786..17526735,11	MCF-7	breast:
12	chr11:17404429..17405006-chr11:17525398..17526266,2	K562	blood:
13	chr11:17376027..17378352-chr11:17525355..17527970,2	K562	blood:
14	chr11:17251338..17252303-chr11:17525826..17526790,3	K562	blood:
15	chr11:17407872..17408796-chr11:17525866..17526775,6	MCF-7	breast:
16	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: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11024318	0.81[EUR][1000 genomes]
rs12271449	0.86[EUR][1000 genomes]
rs12287484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16934329	0.86[EUR][1000 genomes]
rs41282938	0.80[EUR][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17511200-17526000	Weak transcription	Brain Substantia Nigra	brain
2	chr11:17512600-17530000	Weak transcription	Right Atrium	heart
3	chr11:17513600-17530600	Strong transcription	Fetal Intestine Small	intestine
4	chr11:17516800-17529600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:17516800-17553000	Weak transcription	Stomach Mucosa	stomach
6	chr11:17520000-17528600	Weak transcription	Gastric	stomach
7	chr11:17520400-17526000	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:17521400-17529800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:17521800-17529800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:17522600-17531800	Weak transcription	Colonic Mucosa	Colon
11	chr11:17522800-17531200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:17523000-17527600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:17523600-17526600	Enhancers	Dnd41	blood
14	chr11:17524600-17528400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:17525000-17527600	Weak transcription	Spleen	Spleen
16	chr11:17525400-17526400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:17525400-17533600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:17525600-17526200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:17525600-17526200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:17525600-17526800	Enhancers	HSMMtube	muscle
21	chr11:17525600-17527000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:17525800-17526600	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:17525800-17526800	Enhancers	Colon Smooth Muscle	Colon
24	chr11:17525800-17527000	Enhancers	Fetal Muscle Trunk	muscle

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