Variant report

Variant	rs59621450
Chromosome Location	chr11:73537413-73537414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73531866..73534738-chr11:73536953..73538910,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11821823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822264	1.00[EUR][1000 genomes]
rs11822655	1.00[EUR][1000 genomes]
rs11822794	1.00[EUR][1000 genomes]
rs11823400	1.00[EUR][1000 genomes]
rs11824937	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826017	1.00[EUR][1000 genomes]
rs11827951	1.00[EUR][1000 genomes]
rs11828393	1.00[EUR][1000 genomes]
rs11829005	1.00[EUR][1000 genomes]
rs11829012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295455	1.00[EUR][1000 genomes]
rs17132260	1.00[EUR][1000 genomes]
rs17132408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132422	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132488	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132555	1.00[EUR][1000 genomes]
rs2462620	1.00[EUR][1000 genomes]
rs2512635	1.00[EUR][1000 genomes]
rs45476292	1.00[EUR][1000 genomes]
rs45570334	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55840703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893487	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939206	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117405	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168571	0.87[AMR][1000 genomes]
rs56237750	1.00[EUR][1000 genomes]
rs56340309	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378817	1.00[EUR][1000 genomes]
rs56723437	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56767203	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579114	1.00[EUR][1000 genomes]
rs58792356	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59610227	1.00[EUR][1000 genomes]
rs60093210	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60520592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60924318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085412	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61581672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61616797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61701946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs645579	1.00[EUR][1000 genomes]
rs675838	1.00[EUR][1000 genomes]
rs676346	1.00[EUR][1000 genomes]
rs7110607	1.00[EUR][1000 genomes]
rs73543094	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
3	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
4	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
6	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
7	chr11:73500600-73538800	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:73500600-73549200	Weak transcription	Osteobl	bone
9	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
10	chr11:73500800-73558800	Weak transcription	NHEK	skin
11	chr11:73503600-73541200	Weak transcription	GM12878-XiMat	blood
12	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
13	chr11:73508800-73538200	Weak transcription	Placenta	Placenta
14	chr11:73508800-73538200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:73508800-73541400	Weak transcription	Esophagus	oesophagus
16	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
18	chr11:73508800-73575400	Weak transcription	Gastric	stomach
19	chr11:73509000-73539400	Weak transcription	Ovary	ovary
20	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
22	chr11:73509000-73553200	Weak transcription	Lung	lung
23	chr11:73509200-73538400	Weak transcription	Brain Anterior Caudate	brain
24	chr11:73509600-73538200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:73509600-73541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:73516000-73553200	Weak transcription	HepG2	liver
27	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:73517400-73538200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:73517600-73549400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:73518200-73537600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:73518200-73541000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:73518400-73541000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
35	chr11:73518600-73538000	Weak transcription	Primary B cells from cord blood	blood
36	chr11:73519400-73540400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:73519600-73537600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:73519600-73538400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:73519600-73538600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:73519800-73538200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:73520200-73537600	Weak transcription	Thymus	Thymus
42	chr11:73521000-73538200	Weak transcription	Primary T cells from cord blood	blood
43	chr11:73521000-73538400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:73522000-73538600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:73522400-73537600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:73522400-73549400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:73522400-73549400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:73523800-73538800	Weak transcription	K562	blood
49	chr11:73525600-73549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:73529800-73538600	Weak transcription	Left Ventricle	heart

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