Variant report

Variant	rs41282940
Chromosome Location	chr11:17548507-17548508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17404201..17406453-chr11:17548482..17550709,2	K562	blood:
2	chr11:17538690..17542408-chr11:17546927..17550590,3	MCF-7	breast:
3	chr11:17401047..17402845-chr11:17547923..17549749,2	MCF-7	breast:
4	chr11:17408865..17412169-chr11:17547784..17549963,3	K562	blood:

Variant related genes	Relation type
ENSG00000260196	Chromatin interaction
ENSG00000187486	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12270598	0.83[AMR][1000 genomes]
rs12273896	0.83[AMR][1000 genomes]
rs12275068	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2355021	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7112757	0.83[AMR][1000 genomes]
rs72870320	0.81[ASN][1000 genomes]
rs72870321	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72870323	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72870330	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs733126	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs878545	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs886817	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv33415	chr11:17532596-17549436	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv934119	chr11:17542691-17548601	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17516800-17553000	Weak transcription	Stomach Mucosa	stomach
2	chr11:17527600-17549200	Strong transcription	Duodenum Mucosa	Duodenum
3	chr11:17529800-17548600	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr11:17531800-17552400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:17538400-17562200	Weak transcription	Small Intestine	intestine
6	chr11:17539600-17550000	Weak transcription	Spleen	Spleen
7	chr11:17540800-17552400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:17541000-17552600	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr11:17541400-17552400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:17541600-17549600	Weak transcription	Brain Anterior Caudate	brain
11	chr11:17541600-17550000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:17541600-17551600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:17541600-17555800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:17542600-17549400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:17542600-17550000	Weak transcription	Brain Substantia Nigra	brain
16	chr11:17544000-17549800	Strong transcription	Colonic Mucosa	Colon
17	chr11:17545400-17553000	Weak transcription	Gastric	stomach
18	chr11:17545800-17550000	Weak transcription	Right Atrium	heart
19	chr11:17546800-17550000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:17547200-17550400	Genic enhancers	Fetal Intestine Large	intestine
21	chr11:17547200-17563200	Genic enhancers	Fetal Intestine Small	intestine
22	chr11:17547800-17548600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr11:17548000-17550000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:17548000-17550200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:17548200-17549000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:17548200-17549200	Weak transcription	HSMMtube	muscle
27	chr11:17548400-17549000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:17548400-17549400	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:17548400-17549600	Weak transcription	Brain Inferior Temporal Lobe	brain

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