Variant report

Variant	rs1867823
Chromosome Location	chr2:47115828-47115829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46691358..46692227-chr2:47115825..47116785,3	K562	blood:
2	chr2:47115779..47117339-chr2:47120476..47123215,2	K562	blood:
3	chr2:47114369..47117073-chr2:47127351..47131177,3	K562	blood:
4	chr2:47114899..47116611-chr2:47118256..47121288,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10188304	0.97[ASN][1000 genomes]
rs62136786	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136789	0.98[ASN][1000 genomes]
rs6745913	0.89[EUR][1000 genomes]
rs7561566	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
2	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
3	chr2:47106600-47116000	Weak transcription	Brain Angular Gyrus	brain
4	chr2:47107400-47117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:47109400-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:47109400-47125200	Weak transcription	Spleen	Spleen
7	chr2:47109600-47116000	Weak transcription	Fetal Lung	lung
8	chr2:47109800-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:47110200-47116000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:47110200-47116000	Weak transcription	HUVEC	blood vessel
11	chr2:47112200-47116600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:47113000-47116600	Weak transcription	Right Atrium	heart
13	chr2:47113200-47116200	Enhancers	NH-A	brain
14	chr2:47113200-47116600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:47113200-47116600	Enhancers	Osteobl	bone
16	chr2:47113200-47131200	Weak transcription	Aorta	Aorta
17	chr2:47113800-47116200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:47114000-47116200	Enhancers	NHLF	lung
19	chr2:47114200-47116000	Enhancers	A549	lung
20	chr2:47114200-47116200	Enhancers	HSMMtube	muscle
21	chr2:47115000-47116200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:47115200-47116800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:47115400-47116200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:47115600-47116000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:47115600-47116000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:47115600-47116000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:47115600-47116200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:47115600-47116600	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:47115800-47116000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:47115800-47116000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:47115800-47116000	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:47115800-47116200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:47115800-47116200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:47115800-47116200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:47115800-47116200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:47115800-47116200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:47115800-47116200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:47115800-47116200	Enhancers	Placenta	Placenta
39	chr2:47115800-47116200	Enhancers	Fetal Stomach	stomach
40	chr2:47115800-47116200	Enhancers	Left Ventricle	heart
41	chr2:47115800-47116200	Enhancers	Rectal Smooth Muscle	rectum
42	chr2:47115800-47116200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:47115800-47116200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr2:47115800-47116200	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr2:47115800-47116200	Enhancers	HSMM	muscle
46	chr2:47115800-47116400	Enhancers	Colon Smooth Muscle	Colon
47	chr2:47115800-47116600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:47115800-47116600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:47115800-47116600	Enhancers	Brain Substantia Nigra	brain
50	chr2:47115800-47116600	Enhancers	Fetal Muscle Leg	muscle

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