Variant report

Variant	rs57944700
Chromosome Location	chr11:56991775-56991776
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	chr11:56989037..56991877-chr11:56993430..56996007,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10896586	0.83[EUR][1000 genomes]
rs11228951	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11602335	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12223141	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1893677	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1943482	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2156456	0.81[EUR][1000 genomes]
rs2282623	0.80[AMR][1000 genomes]
rs56074283	0.81[EUR][1000 genomes]
rs56229060	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61888865	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61888866	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7109894	0.99[ASN][1000 genomes]
rs721607	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs746886	0.80[AMR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56982600-56991800	Weak transcription	NHDF-Ad	bronchial
2	chr11:56987200-56995200	Weak transcription	Left Ventricle	heart
3	chr11:56987600-57000800	Weak transcription	Spleen	Spleen
4	chr11:56988600-56992400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:56988600-56992400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:56988600-56992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:56989600-56992800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:56989600-56997800	Weak transcription	Adipose Nuclei	Adipose
9	chr11:56990400-56992200	Weak transcription	HUVEC	blood vessel
10	chr11:56991000-56992000	Enhancers	NH-A	brain
11	chr11:56991000-56992400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:56991000-56992400	Enhancers	Osteobl	bone
13	chr11:56991000-56992600	Enhancers	HSMMtube	muscle
14	chr11:56991000-56992800	Enhancers	HSMM	muscle
15	chr11:56991200-56992000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:56991200-56992200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:56991200-56992200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:56991200-56992400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:56991400-56991800	Enhancers	A549	lung
20	chr11:56991400-56992000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:56991400-56992400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:56991400-56992400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:56991600-56992000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:56991600-56992000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr11:56991600-56992000	Weak transcription	Brain Anterior Caudate	brain
26	chr11:56991600-56992000	Enhancers	Fetal Brain Male	brain
27	chr11:56991600-56992200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:56991600-56992400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:56991600-56992600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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