Variant report

Variant	rs7571711
Chromosome Location	chr2:100912986-100912987
allele	C/T
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	chr2:100911391..100913111-chr2:100914566..100916182,2	K562	blood:
3	chr2:100900693..100917248-chr2:100932005..100942326,51	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11885939	1.00[AMR][1000 genomes]
rs11903467	1.00[AMR][1000 genomes]
rs55977934	1.00[AMR][1000 genomes]
rs56014037	1.00[AMR][1000 genomes]
rs57214256	1.00[AMR][1000 genomes]
rs58873938	1.00[AMR][1000 genomes]
rs59438692	1.00[AMR][1000 genomes]
rs59956756	1.00[AMR][1000 genomes]
rs6708846	1.00[AMR][1000 genomes]
rs6711900	1.00[AMR][1000 genomes]
rs72970605	1.00[AMR][1000 genomes]
rs72970614	1.00[AMR][1000 genomes]
rs7564817	1.00[AMR][1000 genomes]
rs7608701	1.00[AMR][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:45 , 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	chr2:100903600-100914400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:100903600-100926200	Weak transcription	Fetal Kidney	kidney
10	chr2:100908000-100919400	Weak transcription	Spleen	Spleen
11	chr2:100908200-100917800	Weak transcription	Lung	lung
12	chr2:100908400-100914400	Weak transcription	Esophagus	oesophagus
13	chr2:100908400-100917600	Weak transcription	Fetal Stomach	stomach
14	chr2:100908600-100915800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr2:100908800-100926600	Weak transcription	Gastric	stomach
16	chr2:100909000-100913600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:100909000-100915000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:100909000-100920600	Weak transcription	Fetal Intestine Small	intestine
19	chr2:100909200-100913600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:100909200-100914000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:100909800-100914200	Strong transcription	Pancreas	Pancrea
22	chr2:100910000-100913000	Strong transcription	Brain Cingulate Gyrus	brain
23	chr2:100910200-100920000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:100910200-100920400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:100910400-100918200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:100910400-100925800	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:100910600-100915400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:100910800-100915600	Strong transcription	A549	lung
29	chr2:100910800-100917600	Weak transcription	Left Ventricle	heart
30	chr2:100910800-100933600	Weak transcription	K562	blood
31	chr2:100911000-100913800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:100911000-100915200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:100911000-100915200	Weak transcription	Hela-S3	cervix
34	chr2:100911000-100917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:100911200-100917800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:100911800-100913200	Strong transcription	Brain Hippocampus Middle	brain
37	chr2:100911800-100918600	Strong transcription	Brain Germinal Matrix	brain
38	chr2:100912000-100915800	Strong transcription	Ovary	ovary
39	chr2:100912000-100918200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:100912000-100919400	Strong transcription	Brain Anterior Caudate	brain
41	chr2:100912200-100915800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr2:100912400-100917800	Weak transcription	Aorta	Aorta
43	chr2:100912400-100918600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:100912600-100917600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:100912800-100934800	Weak transcription	Brain Angular Gyrus	brain

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