Variant report

Variant	rs60543719
Chromosome Location	chr11:76463459-76463460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76456730..76465168-chr11:76492668..76497012,7	K562	blood:
2	chr11:76463120..76464705-chr11:76473481..76475245,2	K562	blood:
3	chr11:76458389..76460958-chr11:76461404..76463823,3	K562	blood:

Variant related genes	Relation type
ENSG00000255100	Chromatin interaction
ENSG00000182704	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11822653	0.94[ASN][1000 genomes]
rs11826943	0.96[ASN][1000 genomes]
rs12362105	0.92[ASN][1000 genomes]
rs12792283	0.96[ASN][1000 genomes]
rs12794131	0.94[ASN][1000 genomes]
rs12798095	0.96[ASN][1000 genomes]
rs12801851	0.92[ASN][1000 genomes]
rs12802806	0.96[ASN][1000 genomes]
rs17812296	0.90[ASN][1000 genomes]
rs28428842	0.90[ASN][1000 genomes]
rs34885552	0.92[ASN][1000 genomes]
rs35714835	0.96[ASN][1000 genomes]
rs55698208	0.90[ASN][1000 genomes]
rs55920167	0.90[ASN][1000 genomes]
rs55933713	0.88[ASN][1000 genomes]
rs56203693	0.90[ASN][1000 genomes]
rs56224101	0.90[ASN][1000 genomes]
rs56274763	0.90[ASN][1000 genomes]
rs56335423	0.90[ASN][1000 genomes]
rs57042533	1.00[ASN][1000 genomes]
rs57847352	1.00[ASN][1000 genomes]
rs61621849	1.00[ASN][1000 genomes]
rs7103917	0.92[ASN][1000 genomes]
rs7108890	0.94[ASN][1000 genomes]
rs7122848	0.96[ASN][1000 genomes]
rs7123238	0.96[ASN][1000 genomes]
rs7943760	0.92[ASN][1000 genomes]
rs7944011	0.92[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	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv1850014	chr11:76384895-76464814	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76457000-76474600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:76459000-76469600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:76459200-76465000	Enhancers	Stomach Mucosa	stomach
4	chr11:76459600-76463800	Weak transcription	Brain Germinal Matrix	brain
5	chr11:76461000-76473800	Weak transcription	Small Intestine	intestine
6	chr11:76461600-76463800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:76461600-76468000	Weak transcription	HSMMtube	muscle
8	chr11:76462600-76468400	Weak transcription	Fetal Brain Female	brain
9	chr11:76462800-76463600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:76462800-76464000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:76462800-76464000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:76462800-76464200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:76462800-76465400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:76463000-76463600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:76463000-76463600	Enhancers	Adipose Nuclei	Adipose
16	chr11:76463000-76463600	Enhancers	Placenta	Placenta
17	chr11:76463000-76463600	Enhancers	Ovary	ovary
18	chr11:76463000-76463800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:76463000-76464200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:76463000-76464600	Enhancers	Fetal Intestine Small	intestine
21	chr11:76463000-76464600	Enhancers	K562	blood
22	chr11:76463000-76464800	Enhancers	A549	lung
23	chr11:76463000-76465000	Enhancers	Fetal Heart	heart
24	chr11:76463000-76465600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:76463200-76463600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr11:76463200-76463600	Enhancers	Right Atrium	heart
27	chr11:76463200-76463800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:76463200-76463800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr11:76463200-76463800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:76463200-76463800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:76463200-76463800	Enhancers	Fetal Brain Male	brain
32	chr11:76463200-76464200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:76463200-76464600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr11:76463200-76464800	Enhancers	Colonic Mucosa	Colon
35	chr11:76463200-76464800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:76463200-76464800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:76463200-76465000	Flanking Active TSS	Hela-S3	cervix
38	chr11:76463200-76465000	Enhancers	NHDF-Ad	bronchial
39	chr11:76463200-76465200	Enhancers	Fetal Muscle Leg	muscle
40	chr11:76463200-76465400	Enhancers	Lung	lung
41	chr11:76463400-76463600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:76463400-76463600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:76463400-76463600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:76463400-76463600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:76463400-76463600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:76463400-76463600	Enhancers	Right Ventricle	heart
47	chr11:76463400-76463600	Flanking Active TSS	HepG2	liver
48	chr11:76463400-76463800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:76463400-76463800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:76463400-76463800	Enhancers	Skeletal Muscle Male	skeletal muscle

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