Variant report

Variant	rs72821133
Chromosome Location	chr2:100889130-100889131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100887684..100889414-chr2:100891922..100893717,2	K562	blood:
2	chr2:100882860..100889379-chr2:100906197..100910186,11	MCF-7	breast:
3	chr2:100889062..100891590-chr2:100897869..100900179,3	MCF-7	breast:
4	chr2:100881738..100884952-chr2:100887555..100890244,3	MCF-7	breast:
5	chr2:100887980..100890347-chr2:100906577..100908691,2	K562	blood:
6	chr2:100888847..100890677-chr2:100907191..100910178,2	K562	blood:
7	chr2:100887822..100891668-chr2:100905183..100909067,4	MCF-7	breast:
8	chr2:100887151..100889379-chr2:100995251..100997731,2	MCF-7	breast:
9	chr2:100885390..100890009-chr2:100935265..100941023,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10170878	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173499	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199107	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11886523	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12463633	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464433	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464505	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12467008	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12472141	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611915	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13394110	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13397010	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397337	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871341	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34044131	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851281	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4851282	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55856206	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57328601	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60501704	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148117	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62148118	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6707358	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724490	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727712	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72819202	0.88[AMR][1000 genomes]
rs72821104	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72821119	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72821120	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821122	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821124	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821125	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821126	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100874600-100891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:100879400-100891200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:100879400-100896200	Weak transcription	Spleen	Spleen
4	chr2:100879400-100900200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:100880000-100891400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:100880200-100898400	Weak transcription	A549	lung
7	chr2:100884200-100900200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:100884800-100897400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:100885400-100891200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:100885600-100898200	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:100885600-100902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:100886000-100891200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:100886400-100891000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:100887000-100889200	Weak transcription	Adipose Nuclei	Adipose
15	chr2:100887000-100900200	Weak transcription	Left Ventricle	heart
16	chr2:100887200-100891200	Weak transcription	Gastric	stomach
17	chr2:100887200-100898000	Weak transcription	Fetal Brain Female	brain
18	chr2:100887800-100890600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:100887800-100891200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:100887800-100891200	Weak transcription	Pancreas	Pancrea
21	chr2:100887800-100895000	Weak transcription	K562	blood
22	chr2:100887800-100901800	Weak transcription	Fetal Intestine Small	intestine
23	chr2:100888000-100891200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:100888000-100898000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:100888200-100889800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:100888200-100896000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:100888400-100894600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:100888600-100889800	Enhancers	Fetal Muscle Leg	muscle
29	chr2:100888600-100891400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:100889000-100889400	Weak transcription	Fetal Lung	lung
31	chr2:100889000-100891000	Weak transcription	Ovary	ovary

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