Variant report

Variant	rs914838
Chromosome Location	chr1:56904162-56904163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11206809	0.90[ASN][1000 genomes]
rs1999537	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780293	1.00[ASN][1000 genomes]
rs3892374	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4411163	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6421495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588629	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588630	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6701827	0.90[ASN][1000 genomes]
rs7529440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56896600-56904200	Enhancers	Brain Angular Gyrus	brain
2	chr1:56897200-56906000	Enhancers	Brain Anterior Caudate	brain
3	chr1:56897200-56906000	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:56897200-56906000	Enhancers	Brain Substantia Nigra	brain
5	chr1:56897600-56904200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:56898000-56906400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:56898200-56904800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:56899000-56905000	Weak transcription	Adipose Nuclei	Adipose
9	chr1:56899000-56906000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:56899400-56904800	Weak transcription	Liver	Liver
11	chr1:56900200-56905600	Enhancers	Left Ventricle	heart
12	chr1:56900400-56904200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:56900400-56904200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:56900400-56906000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:56900400-56906400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:56900600-56904200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:56900600-56905000	Weak transcription	Gastric	stomach
18	chr1:56900600-56912000	Weak transcription	Esophagus	oesophagus
19	chr1:56901000-56904200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:56901200-56904200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:56901800-56905400	Weak transcription	Fetal Thymus	thymus
22	chr1:56901800-56906000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:56902000-56905200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:56902000-56905600	Weak transcription	Primary B cells from cord blood	blood
25	chr1:56902000-56912200	Weak transcription	Lung	lung
26	chr1:56902200-56904200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:56902200-56905400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:56902200-56911800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:56902400-56904400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:56902400-56906200	Enhancers	Brain Hippocampus Middle	brain
31	chr1:56902400-56907200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:56903000-56904200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:56903000-56904200	Enhancers	Spleen	Spleen
34	chr1:56903000-56904600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr1:56903000-56905400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:56903000-56906400	Enhancers	HepG2	liver
37	chr1:56903200-56904800	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:56903200-56904800	Weak transcription	Right Ventricle	heart
39	chr1:56903200-56905600	Enhancers	Right Atrium	heart
40	chr1:56903200-56906000	Enhancers	Fetal Heart	heart
41	chr1:56903200-56906400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:56903200-56912000	Weak transcription	Fetal Lung	lung
43	chr1:56903400-56904200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:56903400-56904200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:56903400-56904600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:56903600-56904200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:56903600-56904200	Enhancers	NHDF-Ad	bronchial
48	chr1:56903600-56904400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr1:56903600-56905000	Weak transcription	Placenta	Placenta
50	chr1:56903600-56905800	Enhancers	Skeletal Muscle Female	skeletal muscle

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