Variant report

Variant	rs11572392
Chromosome Location	chr1:217262232-217262233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11572399	1.00[AMR][1000 genomes]
rs2789562	1.00[AMR][1000 genomes]
rs2818749	1.00[AMR][1000 genomes]
rs2818750	1.00[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	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217260800-217264800	Active TSS	Brain Anterior Caudate	brain
2	chr1:217261000-217264400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:217261400-217263000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:217261400-217264000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr1:217261400-217264000	Active TSS	Brain Substantia Nigra	brain
6	chr1:217261400-217265200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:217261600-217263600	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:217261600-217264000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:217261600-217264200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:217261800-217262400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:217261800-217262400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr1:217261800-217262400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:217261800-217262600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:217261800-217262600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:217261800-217262600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:217261800-217262800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:217261800-217263000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:217261800-217263000	Flanking Active TSS	Fetal Lung	lung
19	chr1:217261800-217263200	Flanking Active TSS	Fetal Brain Male	brain
20	chr1:217261800-217263600	Active TSS	Rectal Smooth Muscle	rectum
21	chr1:217261800-217263800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:217261800-217263800	Active TSS	Fetal Intestine Large	intestine
23	chr1:217261800-217263800	Active TSS	Fetal Intestine Small	intestine
24	chr1:217261800-217263800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:217261800-217264000	Active TSS	Colon Smooth Muscle	Colon
26	chr1:217261800-217264200	Active TSS	Left Ventricle	heart
27	chr1:217261800-217264400	Active TSS	Right Ventricle	heart
28	chr1:217261800-217264600	Active TSS	Right Atrium	heart
29	chr1:217262000-217262400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:217262000-217262400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:217262000-217262400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr1:217262000-217262400	Active TSS	Duodenum Mucosa	Duodenum
33	chr1:217262000-217262400	Flanking Active TSS	Ovary	ovary
34	chr1:217262000-217262600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:217262000-217262600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:217262000-217262600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:217262000-217262600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:217262000-217262600	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr1:217262000-217262800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr1:217262000-217262800	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr1:217262000-217262800	Active TSS	Colonic Mucosa	Colon
42	chr1:217262000-217262800	Flanking Active TSS	Fetal Stomach	stomach
43	chr1:217262000-217262800	Active TSS	Pancreas	Pancrea
44	chr1:217262000-217263000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr1:217262000-217263000	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr1:217262000-217263400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr1:217262000-217263400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr1:217262000-217263800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr1:217262000-217263800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:217262000-217263800	Active TSS	Psoas Muscle	Psoas

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