Variant report

Variant	rs56074283
Chromosome Location	chr11:56978024-56978025
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	chr11:56950383..56952572-chr11:56977333..56980182,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10501364	0.95[EUR][1000 genomes]
rs10896578	0.90[EUR][1000 genomes]
rs10896586	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11228949	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11228951	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11602335	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11605468	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11606597	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12223141	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1815860	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1893677	0.82[EUR][1000 genomes]
rs1943482	0.82[EUR][1000 genomes]
rs2156456	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542855	0.90[EUR][1000 genomes]
rs56229060	0.83[EUR][1000 genomes]
rs57944700	0.81[EUR][1000 genomes]
rs61888863	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61888865	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61888866	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7124474	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs717211	0.81[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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56973600-56980200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:56973800-56978200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:56974000-56978200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:56974000-56980400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:56974000-56981000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:56974200-56978200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:56974800-56978200	Weak transcription	Right Ventricle	heart
8	chr11:56975000-56978200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:56975200-56978400	Weak transcription	Left Ventricle	heart
10	chr11:56975200-56981000	Weak transcription	Right Atrium	heart
11	chr11:56975600-56978200	Weak transcription	Adipose Nuclei	Adipose
12	chr11:56977000-56983000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:56977400-56978200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:56977400-56981200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:56977400-56981200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:56977600-56978800	Enhancers	Fetal Muscle Leg	muscle
17	chr11:56977600-56978800	Enhancers	Fetal Stomach	stomach
18	chr11:56977600-56979000	Enhancers	Spleen	Spleen
19	chr11:56977600-56979200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:56977800-56978400	Weak transcription	Brain Germinal Matrix	brain
21	chr11:56977800-56978600	Enhancers	Placenta	Placenta
22	chr11:56977800-56978800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr11:56977800-56979200	Enhancers	Fetal Lung	lung
24	chr11:56978000-56978200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:56978000-56978600	Enhancers	Lung	lung
26	chr11:56978000-56978800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:56978000-56978800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:56978000-56978800	Enhancers	HSMMtube	muscle
29	chr11:56978000-56979000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:56978000-56979000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:56978000-56979000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:56978000-56979200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:56978000-56979200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:56978000-56979200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:56978000-56980000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:56978000-56980600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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