Variant report

Variant	rs72692821
Chromosome Location	chr1:149905279-149905280
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	chr1:149783800..149785818-chr1:149904414..149906433,2	K562	blood:

Variant related genes	Relation type
ENSG00000183598	Chromatin interaction
ENSG00000203814	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10494260	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11205309	0.86[ASN][1000 genomes]
rs11205310	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12023748	0.92[ASN][1000 genomes]
rs12026500	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12082689	0.85[ASN][1000 genomes]
rs3738320	0.85[ASN][1000 genomes]
rs3767627	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3767628	0.91[ASN][1000 genomes]
rs3936952	0.85[ASN][1000 genomes]
rs4926400	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6660842	0.97[ASN][1000 genomes]
rs72692823	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7551741	0.84[AMR][1000 genomes];0.96[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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149900400-149906400	Genic enhancers	Fetal Intestine Small	intestine
2	chr1:149900400-149907800	Weak transcription	Esophagus	oesophagus
3	chr1:149900400-149907800	Weak transcription	Pancreas	Pancrea
4	chr1:149900400-149908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:149900600-149906200	Genic enhancers	Fetal Intestine Large	intestine
6	chr1:149900600-149906200	Weak transcription	Left Ventricle	heart
7	chr1:149900600-149907600	Weak transcription	Fetal Brain Male	brain
8	chr1:149900600-149907800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:149900600-149908200	Weak transcription	Right Ventricle	heart
10	chr1:149900600-149908400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:149900800-149905600	Weak transcription	Brain Substantia Nigra	brain
12	chr1:149900800-149905600	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:149900800-149905800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:149900800-149905800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:149900800-149906400	Weak transcription	Adipose Nuclei	Adipose
16	chr1:149900800-149907200	Weak transcription	HepG2	liver
17	chr1:149900800-149907600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:149900800-149907600	Weak transcription	Liver	Liver
19	chr1:149900800-149907800	Weak transcription	Brain Germinal Matrix	brain
20	chr1:149900800-149907800	Weak transcription	HSMM	muscle
21	chr1:149900800-149908000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:149900800-149908200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:149901000-149906000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:149901000-149906000	Weak transcription	Small Intestine	intestine
25	chr1:149901000-149906000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:149901000-149906200	Strong transcription	Placenta	Placenta
27	chr1:149901000-149906600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:149901000-149907800	Weak transcription	Brain Angular Gyrus	brain
29	chr1:149901200-149909000	Weak transcription	GM12878-XiMat	blood
30	chr1:149901400-149906200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:149901400-149906200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:149901600-149906200	Strong transcription	Ovary	ovary
33	chr1:149901600-149906400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:149901600-149907400	Weak transcription	Stomach Mucosa	stomach
35	chr1:149901600-149908200	Weak transcription	Fetal Thymus	thymus
36	chr1:149901800-149905400	Weak transcription	Spleen	Spleen
37	chr1:149901800-149906000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:149901800-149906400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr1:149902200-149906600	Strong transcription	Fetal Stomach	stomach
40	chr1:149902600-149907600	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:149903600-149905600	Strong transcription	Fetal Kidney	kidney
42	chr1:149903600-149906000	Strong transcription	NHDF-Ad	bronchial
43	chr1:149903800-149905600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:149903800-149905600	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:149903800-149906200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:149903800-149906200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:149903800-149906400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:149903800-149906600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:149903800-149907600	Weak transcription	K562	blood
50	chr1:149903800-149907800	Weak transcription	NH-A	brain

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