Variant report

Variant	rs62016811
Chromosome Location	chr15:73414131-73414132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1023924	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1038137	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10467948	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072403	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12050774	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13379875	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1479338	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1479339	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17762146	0.85[EUR][1000 genomes]
rs17762516	0.81[EUR][1000 genomes]
rs17762600	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17829830	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17829957	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1812835	0.81[EUR][1000 genomes]
rs1964543	0.88[EUR][1000 genomes]
rs2169951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3985588	0.82[ASN][1000 genomes]
rs4132536	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4545783	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4609810	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4776624	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4776625	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4777590	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55646651	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55836604	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55925663	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55939596	0.81[EUR][1000 genomes]
rs56215298	0.81[EUR][1000 genomes]
rs56269104	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56348595	0.81[EUR][1000 genomes]
rs56377702	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59066156	0.81[ASN][1000 genomes]
rs62016797	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62016803	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62016805	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62016806	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62016808	0.88[EUR][1000 genomes]
rs62016809	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62016813	0.88[EUR][1000 genomes]
rs62016814	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62016849	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62016851	0.84[ASN][1000 genomes]
rs62016853	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62016854	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62017774	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62017776	0.81[EUR][1000 genomes]
rs7165610	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74022925	0.81[EUR][1000 genomes]
rs74025262	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8026121	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9806496	0.83[EUR][1000 genomes]
rs9972347	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv482421	chr15:73279141-73426897	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv517966	chr15:73349633-73488753	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv525462	chr15:73349633-73563495	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv904339	chr15:73375847-73483718	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv904340	chr15:73375847-73524629	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904341	chr15:73390790-73483718	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv904342	chr15:73390790-73524629	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73388800-73431200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:73393200-73422400	Weak transcription	Aorta	Aorta
3	chr15:73394200-73414800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:73394400-73415000	Weak transcription	Fetal Stomach	stomach
5	chr15:73396400-73444600	Weak transcription	Psoas Muscle	Psoas
6	chr15:73398400-73415000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:73400400-73434200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:73401200-73414600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:73401200-73414800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:73401200-73423000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:73401200-73428200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:73401400-73419600	Weak transcription	Brain Angular Gyrus	brain
13	chr15:73401400-73422400	Weak transcription	Pancreas	Pancrea
14	chr15:73401400-73422800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:73401400-73480200	Weak transcription	Right Ventricle	heart
16	chr15:73403000-73443400	Weak transcription	Fetal Kidney	kidney
17	chr15:73403200-73414800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:73403600-73414800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:73403600-73415600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:73404200-73414800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:73404200-73425800	Weak transcription	Small Intestine	intestine
22	chr15:73404200-73442600	Weak transcription	Left Ventricle	heart
23	chr15:73405800-73415000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:73406600-73422400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:73406600-73423200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:73406600-73425200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:73406600-73432600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:73406800-73414800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr15:73406800-73418600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:73406800-73419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:73407000-73414800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:73407400-73431600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:73407600-73414800	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:73408000-73443400	Weak transcription	Adipose Nuclei	Adipose
35	chr15:73408800-73424600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:73409200-73422800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr15:73409200-73429200	Weak transcription	Esophagus	oesophagus
38	chr15:73409600-73414800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:73409600-73414800	Weak transcription	Ovary	ovary
40	chr15:73409800-73414600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:73409800-73415000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:73410000-73418800	Weak transcription	Brain Anterior Caudate	brain
43	chr15:73410400-73414800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:73410600-73434600	Weak transcription	Liver	Liver
45	chr15:73410800-73431400	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:73412600-73417600	Weak transcription	Brain Germinal Matrix	brain
47	chr15:73413200-73416600	Strong transcription	Fetal Lung	lung
48	chr15:73413200-73437200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:73413400-73414600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:73413400-73434200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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