Variant report

Variant	rs2682914
Chromosome Location	chr15:77872318-77872319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77867409..77870567-chr15:77872173..77875130,4	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11854591	0.81[EUR][1000 genomes]
rs11857746	0.88[EUR][1000 genomes]
rs12593111	0.88[ASN][1000 genomes]
rs12594829	0.83[EUR][1000 genomes]
rs12906211	0.89[EUR][1000 genomes]
rs16968985	0.83[EUR][1000 genomes]
rs2460770	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2667758	0.89[EUR][1000 genomes]
rs2667759	0.89[EUR][1000 genomes]
rs2667760	0.91[EUR][1000 genomes]
rs2667761	0.92[EUR][1000 genomes]
rs2667762	0.92[EUR][1000 genomes]
rs2667763	0.94[EUR][1000 genomes]
rs2667766	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2667768	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2667769	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2667770	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2667771	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2667772	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2667773	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667774	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2667776	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2667777	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2667778	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2667779	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2667780	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2667784	0.88[EUR][1000 genomes]
rs2682904	0.89[EUR][1000 genomes]
rs2682905	0.90[EUR][1000 genomes]
rs2682906	0.91[EUR][1000 genomes]
rs2682907	0.90[EUR][1000 genomes]
rs2682908	0.92[EUR][1000 genomes]
rs2682909	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2682911	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2682912	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2682913	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2682915	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2682916	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2682918	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2682919	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682920	0.96[ASN][1000 genomes]
rs2682923	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2682925	0.91[ASN][1000 genomes]
rs2682926	0.91[ASN][1000 genomes]
rs2682928	0.88[EUR][1000 genomes]
rs28393270	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28612444	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28641836	0.88[EUR][1000 genomes]
rs35971869	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55808627	0.82[EUR][1000 genomes]
rs56182742	0.83[EUR][1000 genomes]
rs58600827	0.90[EUR][1000 genomes]
rs59235404	0.90[EUR][1000 genomes]
rs59391831	0.90[EUR][1000 genomes]
rs60440781	0.90[EUR][1000 genomes]
rs61240175	0.90[EUR][1000 genomes]
rs867908	0.92[EUR][1000 genomes]
rs867917	0.92[EUR][1000 genomes]
rs867918	0.92[EUR][1000 genomes]
rs868297	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs868299	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs884141	0.93[EUR][1000 genomes]
rs907378	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs907379	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs907380	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs907381	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907382	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907384	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs939486	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs939487	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs939491	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs939492	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs939493	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9806723	0.87[EUR][1000 genomes]
rs9806734	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1043284	chr15:77740632-77884026	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv904415	chr15:77845959-77943935	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv904416	chr15:77845959-77967416	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv904417	chr15:77851535-77935992	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv904418	chr15:77851535-77963887	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77862200-77875000	Weak transcription	Left Ventricle	heart
2	chr15:77868400-77874400	Weak transcription	Fetal Intestine Small	intestine
3	chr15:77868400-77874600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:77868600-77874600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:77870200-77873000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:77870200-77873600	Weak transcription	Fetal Brain Female	brain
7	chr15:77870200-77876600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:77870400-77873400	Weak transcription	Fetal Brain Male	brain
9	chr15:77870400-77876600	Weak transcription	Fetal Heart	heart
10	chr15:77870600-77873000	Weak transcription	Brain Angular Gyrus	brain
11	chr15:77870600-77875200	Weak transcription	Right Ventricle	heart
12	chr15:77871000-77872600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr15:77871000-77873600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:77871000-77874600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:77871200-77873000	Weak transcription	Brain Anterior Caudate	brain
16	chr15:77871200-77873000	Weak transcription	Brain Substantia Nigra	brain
17	chr15:77871400-77873000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:77871400-77873000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:77871400-77876600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:77871600-77873200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:77871600-77873200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:77871600-77873400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:77871600-77873600	Weak transcription	HSMMtube	muscle
24	chr15:77871600-77874600	Weak transcription	Brain Germinal Matrix	brain
25	chr15:77871800-77873000	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:77872000-77872400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:77872000-77873000	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:77872000-77873400	Weak transcription	Stomach Mucosa	stomach

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