Variant report

Variant	rs2241489
Chromosome Location	chr11:10647702-10647703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10646201..10648007-chr11:10771247..10773979,3	K562	blood:
2	chr11:10646060..10648151-chr11:10673265..10675917,2	K562	blood:

Variant related genes	Relation type
ENSG00000072952	Chromatin interaction
ENSG00000198730	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10770126	0.81[ASN][1000 genomes]
rs10840441	0.82[ASN][1000 genomes]
rs10840443	0.82[ASN][1000 genomes]
rs10840444	0.85[ASN][1000 genomes]
rs10840445	0.89[ASN][1000 genomes]
rs10840446	0.95[ASN][1000 genomes]
rs10840448	0.96[ASN][1000 genomes]
rs11042882	0.82[ASN][1000 genomes]
rs11042893	0.84[ASN][1000 genomes]
rs11042894	0.89[ASN][1000 genomes]
rs11042895	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042897	0.96[ASN][1000 genomes]
rs11042898	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11827503	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12280275	0.88[ASN][1000 genomes]
rs12288969	0.81[ASN][1000 genomes]
rs12576545	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576547	0.96[ASN][1000 genomes]
rs12576810	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2278125	0.82[ASN][1000 genomes]
rs2288236	0.83[ASN][1000 genomes]
rs2303402	0.94[ASN][1000 genomes]
rs34988160	0.96[ASN][1000 genomes]
rs3741033	0.82[ASN][1000 genomes]
rs3741034	0.82[ASN][1000 genomes]
rs3741042	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61892975	0.94[ASN][1000 genomes]
rs7114453	0.94[ASN][1000 genomes]
rs7114603	0.95[ASN][1000 genomes]
rs7115735	0.91[ASN][1000 genomes]
rs7126245	0.83[ASN][1000 genomes]
rs724723	0.94[ASN][1000 genomes]
rs749045	0.84[ASN][1000 genomes]
rs881436	0.89[ASN][1000 genomes]
rs918981	0.83[ASN][1000 genomes]
rs964425	0.94[ASN][1000 genomes]
rs964426	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10629400-10650800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:10629400-10663600	Weak transcription	Fetal Intestine Large	intestine
3	chr11:10629600-10662800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:10637800-10659200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:10639800-10661600	Weak transcription	Gastric	stomach
6	chr11:10640600-10661400	Weak transcription	Left Ventricle	heart
7	chr11:10643600-10652400	Strong transcription	NHLF	lung
8	chr11:10643600-10653400	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:10643800-10648200	Enhancers	Lung	lung
10	chr11:10644000-10659600	Weak transcription	Osteobl	bone
11	chr11:10644400-10648000	Enhancers	Adipose Nuclei	Adipose
12	chr11:10644400-10648000	Enhancers	Placenta	Placenta
13	chr11:10645000-10649200	Genic enhancers	Stomach Smooth Muscle	stomach
14	chr11:10645200-10648000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:10645200-10648000	Weak transcription	Ovary	ovary
16	chr11:10645200-10648400	Enhancers	Colon Smooth Muscle	Colon
17	chr11:10645400-10648000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:10645600-10648000	Enhancers	Brain Anterior Caudate	brain
19	chr11:10645600-10648000	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:10645800-10648000	Enhancers	Spleen	Spleen
21	chr11:10645800-10648200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:10646000-10647800	Strong transcription	Fetal Intestine Small	intestine
23	chr11:10646000-10648000	Enhancers	Psoas Muscle	Psoas
24	chr11:10646000-10649800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:10646000-10649800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:10646000-10649800	Weak transcription	Thymus	Thymus
27	chr11:10646000-10661600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:10646000-10679000	Weak transcription	Fetal Lung	lung
29	chr11:10646200-10649800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:10646200-10649800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:10646200-10649800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:10646200-10661400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:10646200-10679200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:10646400-10649400	Weak transcription	Fetal Thymus	thymus
35	chr11:10646400-10649600	Weak transcription	Primary T cells from cord blood	blood
36	chr11:10646400-10649800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:10646400-10650000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:10646400-10659400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:10646600-10648200	Genic enhancers	Fetal Stomach	stomach
40	chr11:10646600-10648400	Enhancers	Fetal Muscle Leg	muscle
41	chr11:10646600-10649800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:10646800-10649800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr11:10646800-10650400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:10646800-10667600	Weak transcription	Right Atrium	heart
45	chr11:10647000-10647800	Genic enhancers	Aorta	Aorta
46	chr11:10647000-10648000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:10647000-10648400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:10647200-10648000	Weak transcription	Brain Substantia Nigra	brain
49	chr11:10647200-10648200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:10647200-10653000	Weak transcription	Esophagus	oesophagus

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