Variant report

Variant	rs62366246
Chromosome Location	chr5:80748350-80748351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr5:80748287-80748544	K562	blood:	n/a	n/a

Variant related genes	Relation type
SSBP2	TF binding region

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13159596	0.91[ASN][1000 genomes]
rs13165194	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13177962	1.00[ASN][1000 genomes]
rs34672841	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35663154	0.91[ASN][1000 genomes]
rs35810595	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35856763	0.82[ASN][1000 genomes]
rs35883849	0.93[ASN][1000 genomes]
rs35995231	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764986	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3792923	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366209	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452409	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66563423	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865796	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866727	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6868748	0.80[EUR][1000 genomes]
rs6894847	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895015	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702374	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725131	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7725277	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737895	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9918175	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:80707400-80748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:80709200-80755200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:80713600-80769200	Weak transcription	Esophagus	oesophagus
5	chr5:80716200-80767800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:80716800-80768400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:80717200-80769200	Weak transcription	Right Ventricle	heart
8	chr5:80718000-80768800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:80718400-80752600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:80718400-80754800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:80718400-80755000	Weak transcription	GM12878-XiMat	blood
12	chr5:80719000-80769200	Weak transcription	HSMMtube	muscle
13	chr5:80722000-80754800	Weak transcription	HSMM	muscle
14	chr5:80722400-80754800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:80722400-80755200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:80722400-80768800	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:80722400-80768800	Weak transcription	Fetal Brain Female	brain
18	chr5:80722600-80748600	Weak transcription	Ovary	ovary
19	chr5:80722600-80767600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:80722600-80768000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:80722600-80768200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:80722600-80769000	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:80722600-80769000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:80722600-80769000	Weak transcription	Fetal Brain Male	brain
25	chr5:80722600-80769000	Weak transcription	Psoas Muscle	Psoas
26	chr5:80722600-80769200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:80722800-80748400	Weak transcription	Fetal Lung	lung
28	chr5:80722800-80755200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:80724000-80748400	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:80725400-80755200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:80729600-80769200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:80729800-80769200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:80730600-80767800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:80731400-80749000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:80731400-80768800	Weak transcription	Fetal Kidney	kidney
36	chr5:80731800-80769200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:80733600-80756000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr5:80734400-80748400	Weak transcription	K562	blood
39	chr5:80735400-80778600	Weak transcription	Aorta	Aorta
40	chr5:80736000-80771200	Weak transcription	NHDF-Ad	bronchial
41	chr5:80736400-80768800	Weak transcription	Fetal Intestine Large	intestine
42	chr5:80736800-80748400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:80738200-80768400	Weak transcription	Brain Germinal Matrix	brain
44	chr5:80739200-80769000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:80739600-80768800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:80739800-80751200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:80739800-80758600	Strong transcription	Dnd41	blood
48	chr5:80739800-80773200	Strong transcription	Fetal Thymus	thymus
49	chr5:80740400-80768000	Weak transcription	Left Ventricle	heart
50	chr5:80740400-80769400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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