Variant report

Variant	rs6421495
Chromosome Location	chr1:56905445-56905446
allele	A/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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999538	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780293	0.91[AFR][1000 genomes];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]
rs6588628	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588629	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]
rs914838	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56897200-56906000	Enhancers	Brain Anterior Caudate	brain
2	chr1:56897200-56906000	Enhancers	Brain Cingulate Gyrus	brain
3	chr1:56897200-56906000	Enhancers	Brain Substantia Nigra	brain
4	chr1:56898000-56906400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:56899000-56906000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:56900200-56905600	Enhancers	Left Ventricle	heart
7	chr1:56900400-56906000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:56900400-56906400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:56900600-56912000	Weak transcription	Esophagus	oesophagus
10	chr1:56901800-56906000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:56902000-56905600	Weak transcription	Primary B cells from cord blood	blood
12	chr1:56902000-56912200	Weak transcription	Lung	lung
13	chr1:56902200-56911800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:56902400-56906200	Enhancers	Brain Hippocampus Middle	brain
15	chr1:56902400-56907200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:56903000-56906400	Enhancers	HepG2	liver
17	chr1:56903200-56905600	Enhancers	Right Atrium	heart
18	chr1:56903200-56906000	Enhancers	Fetal Heart	heart
19	chr1:56903200-56906400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:56903200-56912000	Weak transcription	Fetal Lung	lung
21	chr1:56903600-56905800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:56904000-56905600	Weak transcription	Fetal Intestine Small	intestine
23	chr1:56904000-56906000	Enhancers	Psoas Muscle	Psoas
24	chr1:56904200-56912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:56904400-56905800	Enhancers	Aorta	Aorta
26	chr1:56904800-56905600	Enhancers	Right Ventricle	heart
27	chr1:56904800-56906000	Enhancers	Liver	Liver
28	chr1:56904800-56906000	Enhancers	Fetal Muscle Leg	muscle
29	chr1:56905000-56905600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:56905000-56905600	Enhancers	Placenta	Placenta
31	chr1:56905000-56905600	Enhancers	Ovary	ovary
32	chr1:56905000-56905800	Enhancers	Spleen	Spleen
33	chr1:56905000-56906000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:56905000-56906000	Enhancers	Adipose Nuclei	Adipose
35	chr1:56905000-56906000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:56905200-56905600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:56905200-56906000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:56905200-56906000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:56905200-56906000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:56905200-56906000	Enhancers	Brain Angular Gyrus	brain
41	chr1:56905200-56906000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:56905400-56905600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:56905400-56905600	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:56905400-56905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:56905400-56905800	Enhancers	HMEC	breast
46	chr1:56905400-56906000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:56905400-56906000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:56905400-56906000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:56905400-56906000	Enhancers	Primary B cells from peripheral blood	blood
50	chr1:56905400-56906000	Enhancers	HUVEC	blood vessel

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