Variant report

Variant	rs60433518
Chromosome Location	chr11:10344910-10344911
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9779639..9780676-chr11:10344303..10345229,4	K562	blood:
2	chr11:9778947..9781538-chr11:10344388..10346239,2	K562	blood:
3	chr11:10328246..10329978-chr11:10344544..10346317,2	MCF-7	breast:
4	chr11:10323501..10326681-chr11:10342125..10345667,3	MCF-7	breast:
5	chr11:10329240..10329926-chr11:10344510..10345271,3	K562	blood:
6	chr11:10322256..10324050-chr11:10344001..10345777,2	K562	blood:
7	chr11:10229751..10230298-chr11:10344311..10345132,3	K562	blood:
8	chr11:10322503..10324808-chr11:10343209..10345982,2	MCF-7	breast:
9	chr11:9779620..9781538-chr11:10344739..10347064,2	K562	blood:
10	chr11:10203406..10203971-chr11:10344330..10345190,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254554	Chromatin interaction
ENSG00000246273	Chromatin interaction
ENSG00000148926	Chromatin interaction
ENSG00000133805	Chromatin interaction
ENSG00000245522	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10128609	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10128701	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042651	1.00[AMR][1000 genomes]
rs11042672	1.00[AMR][1000 genomes]
rs11042674	1.00[AMR][1000 genomes]
rs11042684	0.83[AMR][1000 genomes]
rs11042691	1.00[AMR][1000 genomes]
rs11042694	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042696	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042698	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042701	1.00[AMR][1000 genomes]
rs11042705	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042706	1.00[AMR][1000 genomes]
rs11042707	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042708	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042709	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042710	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042711	1.00[AMR][1000 genomes]
rs11042722	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12269976	1.00[AMR][1000 genomes]
rs12270074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12270278	1.00[AMR][1000 genomes]
rs12270822	1.00[AMR][1000 genomes]
rs12271159	1.00[AMR][1000 genomes]
rs12271480	1.00[AMR][1000 genomes]
rs12272306	0.83[AMR][1000 genomes]
rs12273035	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274021	1.00[AMR][1000 genomes]
rs12277936	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279727	1.00[AMR][1000 genomes]
rs12279936	1.00[AMR][1000 genomes]
rs12282728	1.00[AMR][1000 genomes]
rs12285084	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285093	0.83[AMR][1000 genomes]
rs12287964	1.00[AMR][1000 genomes]
rs12288716	1.00[AMR][1000 genomes]
rs12288833	1.00[AMR][1000 genomes]
rs12291188	1.00[AMR][1000 genomes]
rs12291783	0.83[AMR][1000 genomes]
rs12292901	0.83[AMR][1000 genomes]
rs12294064	1.00[AMR][1000 genomes]
rs1372812	1.00[AMR][1000 genomes]
rs16907612	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16907632	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4537746	1.00[AMR][1000 genomes]
rs5005	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57138875	0.83[AMR][1000 genomes]
rs57672320	1.00[AMR][1000 genomes]
rs57743646	0.83[AMR][1000 genomes]
rs58354844	1.00[AMR][1000 genomes]
rs59629505	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59651099	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928017	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60051250	0.83[AMR][1000 genomes]
rs7942109	0.81[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	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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10338400-10346800	Enhancers	NHDF-Ad	bronchial
2	chr11:10339600-10348800	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:10340200-10347400	Weak transcription	Pancreas	Pancrea
4	chr11:10340400-10350000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:10340800-10346200	Weak transcription	Small Intestine	intestine
6	chr11:10340800-10348400	Enhancers	Fetal Stomach	stomach
7	chr11:10341200-10348600	Enhancers	Rectal Smooth Muscle	rectum
8	chr11:10341400-10346400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:10342600-10346000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:10342800-10351600	Enhancers	Adipose Nuclei	Adipose
11	chr11:10343000-10345800	Enhancers	Fetal Muscle Leg	muscle
12	chr11:10343200-10351000	Enhancers	Stomach Mucosa	stomach
13	chr11:10343400-10345600	Enhancers	Placenta	Placenta
14	chr11:10343400-10346800	Enhancers	Fetal Intestine Large	intestine
15	chr11:10343400-10347800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:10343400-10353400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:10343800-10345600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr11:10343800-10350200	Enhancers	NHLF	lung
19	chr11:10344000-10345000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:10344000-10345000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:10344000-10345000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr11:10344000-10345000	Enhancers	Fetal Thymus	thymus
23	chr11:10344000-10345000	Enhancers	Right Atrium	heart
24	chr11:10344000-10345000	Enhancers	HSMMtube	muscle
25	chr11:10344000-10345200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:10344000-10345200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:10344000-10345200	Enhancers	Left Ventricle	heart
28	chr11:10344000-10345200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:10344000-10345400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:10344000-10345600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr11:10344000-10345600	Enhancers	Duodenum Mucosa	Duodenum
32	chr11:10344000-10345800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:10344000-10346000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:10344000-10346000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:10344000-10346000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr11:10344000-10346000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr11:10344000-10346000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:10344000-10347200	Enhancers	Fetal Intestine Small	intestine
39	chr11:10344000-10347600	Enhancers	Fetal Lung	lung
40	chr11:10344000-10349600	Enhancers	HUVEC	blood vessel
41	chr11:10344000-10351600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:10344000-10353200	Enhancers	NH-A	brain
43	chr11:10344000-10353400	Enhancers	Osteobl	bone
44	chr11:10344200-10345600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:10344200-10345800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr11:10344200-10346000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr11:10344200-10346000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:10344400-10345000	Enhancers	Colonic Mucosa	Colon
49	chr11:10344400-10345000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:10344400-10345000	Enhancers	Skeletal Muscle Female	skeletal muscle

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