Variant report

Variant	rs10009239
Chromosome Location	chr4:186529852-186529853
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	chr4:186522445..186525189-chr4:186529706..186532280,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10008758	0.91[EUR][1000 genomes]
rs10009169	0.87[ASN][1000 genomes]
rs13144963	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1872447	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1872448	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6552895	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6552896	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6552897	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6552898	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6552899	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6849104	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9312336	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881506	chr4:186309757-186531693	Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv527026	chr4:186325429-186553480	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1023437	chr4:186378601-186532806	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186495400-186548000	Weak transcription	Esophagus	oesophagus
2	chr4:186498400-186534000	Weak transcription	Spleen	Spleen
3	chr4:186509000-186576400	Weak transcription	Brain Angular Gyrus	brain
4	chr4:186509400-186564200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:186511200-186532200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:186513000-186536200	Weak transcription	Right Atrium	heart
7	chr4:186514400-186535800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:186514400-186540200	Weak transcription	Ovary	ovary
9	chr4:186515000-186534000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:186519000-186549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:186519000-186577600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:186519200-186544000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:186519200-186545800	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:186519200-186561000	Weak transcription	Fetal Kidney	kidney
15	chr4:186520600-186533000	Weak transcription	Fetal Brain Female	brain
16	chr4:186521200-186530000	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:186521200-186542000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:186521200-186542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:186521200-186543800	Weak transcription	Brain Anterior Caudate	brain
20	chr4:186521200-186548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:186521400-186533400	Weak transcription	Right Ventricle	heart
22	chr4:186521400-186544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:186521600-186572200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:186523000-186534000	Weak transcription	Brain Germinal Matrix	brain
25	chr4:186523600-186577600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:186524000-186532800	Weak transcription	HUVEC	blood vessel
27	chr4:186524200-186536600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:186524200-186541400	Strong transcription	HSMMtube	muscle
29	chr4:186524600-186547400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:186524800-186531800	Weak transcription	HSMM	muscle
31	chr4:186527200-186542800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:186528400-186530200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:186528400-186532800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:186528400-186533800	Weak transcription	Aorta	Aorta
35	chr4:186528400-186534200	Weak transcription	Gastric	stomach
36	chr4:186528400-186534200	Weak transcription	HepG2	liver
37	chr4:186528400-186537600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:186528400-186537800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:186528400-186544000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:186528400-186544800	Weak transcription	Lung	lung
41	chr4:186528600-186532800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:186528600-186532800	Weak transcription	Pancreas	Pancrea
43	chr4:186528600-186533800	Weak transcription	Fetal Intestine Small	intestine
44	chr4:186528600-186533800	Weak transcription	Fetal Stomach	stomach
45	chr4:186528600-186533800	Weak transcription	Left Ventricle	heart
46	chr4:186529000-186545000	Weak transcription	Placenta	Placenta
47	chr4:186529400-186530400	Enhancers	Rectal Smooth Muscle	rectum
48	chr4:186529400-186553400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:186529600-186530600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr4:186529600-186531200	Strong transcription	Fetal Heart	heart

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