Variant report

Variant	rs28651883
Chromosome Location	chr2:100914799-100914800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100912722..100916379-chr2:100917427..100921061,4	K562	blood:
2	chr2:100900693..100917248-chr2:100932005..100942326,51	MCF-7	breast:
3	chr2:100911391..100913111-chr2:100914566..100916182,2	K562	blood:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10165326	0.82[ASN][1000 genomes]
rs10169580	0.82[ASN][1000 genomes]
rs10186689	0.89[ASN][1000 genomes]
rs10188009	0.89[ASN][1000 genomes]
rs10191099	0.89[ASN][1000 genomes]
rs10192741	0.89[ASN][1000 genomes]
rs10194087	0.89[ASN][1000 genomes]
rs10194280	0.89[ASN][1000 genomes]
rs10205784	0.82[ASN][1000 genomes]
rs10207566	0.89[ASN][1000 genomes]
rs10210458	0.89[ASN][1000 genomes]
rs11899975	0.82[ASN][1000 genomes]
rs11902829	0.85[ASN][1000 genomes]
rs13415850	0.89[ASN][1000 genomes]
rs17024023	0.82[ASN][1000 genomes]
rs17024153	0.81[ASN][1000 genomes]
rs2309799	0.82[ASN][1000 genomes]
rs28485289	0.89[ASN][1000 genomes]
rs28631885	0.89[ASN][1000 genomes]
rs2871338	0.82[ASN][1000 genomes]
rs57231149	0.82[ASN][1000 genomes]
rs57699256	0.82[ASN][1000 genomes]
rs58552292	0.89[ASN][1000 genomes]
rs58742261	0.89[ASN][1000 genomes]
rs59193721	0.89[ASN][1000 genomes]
rs59494003	1.00[ASN][1000 genomes]
rs60458261	0.89[ASN][1000 genomes]
rs61429123	0.89[ASN][1000 genomes]
rs6542928	0.89[ASN][1000 genomes]
rs6734881	0.89[ASN][1000 genomes]
rs995133	0.82[ASN][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	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
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100898400-100915600	Weak transcription	Right Atrium	heart
2	chr2:100898800-100915000	Weak transcription	Adipose Nuclei	Adipose
3	chr2:100900200-100919000	Strong transcription	Fetal Brain Female	brain
4	chr2:100900800-100926600	Weak transcription	Right Ventricle	heart
5	chr2:100901000-100937000	Weak transcription	Fetal Brain Male	brain
6	chr2:100903200-100918000	Weak transcription	Liver	Liver
7	chr2:100903400-100930800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:100903600-100926200	Weak transcription	Fetal Kidney	kidney
9	chr2:100908000-100919400	Weak transcription	Spleen	Spleen
10	chr2:100908200-100917800	Weak transcription	Lung	lung
11	chr2:100908400-100917600	Weak transcription	Fetal Stomach	stomach
12	chr2:100908600-100915800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr2:100908800-100926600	Weak transcription	Gastric	stomach
14	chr2:100909000-100915000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:100909000-100920600	Weak transcription	Fetal Intestine Small	intestine
16	chr2:100910200-100920000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:100910200-100920400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:100910400-100918200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:100910400-100925800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:100910600-100915400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:100910800-100915600	Strong transcription	A549	lung
22	chr2:100910800-100917600	Weak transcription	Left Ventricle	heart
23	chr2:100910800-100933600	Weak transcription	K562	blood
24	chr2:100911000-100915200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:100911000-100915200	Weak transcription	Hela-S3	cervix
26	chr2:100911000-100917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:100911200-100917800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:100911800-100918600	Strong transcription	Brain Germinal Matrix	brain
29	chr2:100912000-100915800	Strong transcription	Ovary	ovary
30	chr2:100912000-100918200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:100912000-100919400	Strong transcription	Brain Anterior Caudate	brain
32	chr2:100912200-100915800	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr2:100912400-100917800	Weak transcription	Aorta	Aorta
34	chr2:100912400-100918600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:100912600-100917600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:100912800-100934800	Weak transcription	Brain Angular Gyrus	brain
37	chr2:100913000-100915200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:100913200-100915200	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:100914200-100917600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:100914200-100917600	Weak transcription	Pancreas	Pancrea
41	chr2:100914400-100916200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:100914400-100918400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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