Variant report

Variant	rs2972363
Chromosome Location	chr5:68553376-68553377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68548010..68550361-chr5:68553101..68555711,2	K562	blood:
2	chr5:68514852..68516852-chr5:68553089..68555836,2	K562	blood:
3	chr5:68549479..68552120-chr5:68553320..68555643,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10058852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976102	0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2130755	1.00[EUR][1000 genomes]
rs2930947	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2930950	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932792	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2972383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3101719	0.94[ASN][1000 genomes]
rs6877441	0.94[ASN][1000 genomes]
rs7715704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720249	0.92[ASN][1000 genomes]
rs7729799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7734181	0.92[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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1795469	chr5:68534233-68565285	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68531600-68554600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:68531800-68554600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:68531800-68556000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:68531800-68556800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:68532200-68553400	Weak transcription	Fetal Heart	heart
8	chr5:68532400-68558600	Weak transcription	Brain Substantia Nigra	brain
9	chr5:68532400-68558800	Weak transcription	Brain Angular Gyrus	brain
10	chr5:68532400-68563600	Weak transcription	Fetal Brain Male	brain
11	chr5:68532400-68574600	Weak transcription	Spleen	Spleen
12	chr5:68533200-68576800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:68534400-68554600	Weak transcription	Gastric	stomach
14	chr5:68534400-68556000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:68534400-68575200	Weak transcription	Aorta	Aorta
16	chr5:68534800-68554200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:68535200-68558800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:68535200-68559400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:68535400-68553400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:68535400-68553400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:68535400-68556600	Weak transcription	HSMMtube	muscle
22	chr5:68538400-68563600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:68538800-68553400	Weak transcription	NHLF	lung
24	chr5:68539000-68559200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:68539200-68554600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
27	chr5:68544600-68554600	Weak transcription	Brain Germinal Matrix	brain
28	chr5:68546000-68553400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:68546200-68560600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:68546200-68562200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:68546200-68579200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:68546400-68553400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:68546400-68556200	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:68546400-68569000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:68546600-68553400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:68546600-68566600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:68546800-68555800	Weak transcription	Pancreas	Pancrea
38	chr5:68547600-68553400	Weak transcription	Brain Anterior Caudate	brain
39	chr5:68547600-68556600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:68548400-68557200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:68548400-68560600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:68548600-68566600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr5:68548800-68562000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr5:68549400-68565000	Weak transcription	Small Intestine	intestine
45	chr5:68549400-68577600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:68549600-68577600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:68549800-68567800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:68550200-68555600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:68550400-68560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:68550400-68581800	Strong transcription	Primary monocytes fromperipheralblood	blood

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