Variant report

Variant	rs7114610
Chromosome Location	chr11:17527126-17527127
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	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

No.	Distal block	Cell Line	Cell type
1	chr11:17403459..17406167-chr11:17526057..17528257,2	K562	blood:
2	chr11:17403459..17408423-chr11:17525899..17528813,5	K562	blood:
3	chr11:17405209..17406183-chr11:17527113..17528432,4	MCF-7	breast:
4	chr11:17426028..17428651-chr11:17526756..17528624,2	MCF-7	breast:
5	chr11:17376027..17378352-chr11:17525355..17527970,2	K562	blood:

Variant related genes	Relation type
USH1C	TF binding region
ENSG00000187486	Chromatin interaction
ENSG00000006071	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]
rs7130364	1.00[AMR][1000 genomes]
rs7932625	1.00[AMR][1000 genomes]
rs7934333	0.82[AFR][1000 genomes];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:23 , 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	chr11:17524600-17528400	Weak transcription	Fetal Intestine Large	intestine
12	chr11:17525000-17527600	Weak transcription	Spleen	Spleen
13	chr11:17525400-17533600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:17526000-17527200	Enhancers	Fetal Muscle Leg	muscle
15	chr11:17526200-17539400	Weak transcription	Pancreas	Pancrea
16	chr11:17526600-17536600	Weak transcription	Brain Substantia Nigra	brain
17	chr11:17526600-17537200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:17526800-17529800	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:17526800-17529800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:17526800-17529800	Weak transcription	HSMMtube	muscle
21	chr11:17527000-17527200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr11:17527000-17528600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:17527000-17529200	Weak transcription	Fetal Heart	heart

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