Variant report

Variant	rs61290150
Chromosome Location	chr5:68646379-68646380
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68619412..68621979-chr5:68645837..68648113,2	K562	blood:
2	chr5:68644789..68648896-chr5:68660361..68665573,5	K562	blood:

Variant related genes	Relation type
ENSG00000085231	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000152942	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17236219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236450	1.00[AMR][1000 genomes]
rs17236618	1.00[EUR][1000 genomes]
rs17236639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252226	1.00[EUR][1000 genomes]
rs4252229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55754329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56112110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362385	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57344277	1.00[EUR][1000 genomes]
rs57402724	1.00[EUR][1000 genomes]
rs57714822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58172827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58381452	1.00[EUR][1000 genomes]
rs58742544	1.00[EUR][1000 genomes]
rs59233462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59776629	1.00[EUR][1000 genomes]
rs59799008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60644166	1.00[AMR][1000 genomes]
rs61244656	1.00[EUR][1000 genomes]
rs6861518	1.00[EUR][1000 genomes]
rs6876889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893921	1.00[EUR][1000 genomes]
rs73772384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772537	1.00[AMR][1000 genomes]
rs73772541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725200	1.00[EUR][1000 genomes]
rs8192269	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv968187	chr5:68646127-68650097	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68628800-68649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:68629000-68646800	Weak transcription	NH-A	brain
3	chr5:68631600-68648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:68636000-68648000	Weak transcription	HepG2	liver
5	chr5:68638000-68660200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:68639200-68663400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:68642200-68650400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:68643000-68664400	Weak transcription	Colonic Mucosa	Colon
9	chr5:68643200-68647800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:68643200-68663200	Weak transcription	Small Intestine	intestine
11	chr5:68643600-68655600	Weak transcription	Fetal Heart	heart
12	chr5:68643800-68648000	Weak transcription	HMEC	breast
13	chr5:68643800-68660400	Weak transcription	NHEK	skin
14	chr5:68643800-68660800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:68643800-68663600	Weak transcription	Brain Angular Gyrus	brain
16	chr5:68644000-68649600	Weak transcription	Hela-S3	cervix
17	chr5:68644000-68660600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:68644200-68647200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:68644200-68648000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:68644200-68649600	Weak transcription	Spleen	Spleen
21	chr5:68644200-68652400	Weak transcription	Esophagus	oesophagus
22	chr5:68644200-68660200	Weak transcription	HSMMtube	muscle
23	chr5:68644400-68646400	Weak transcription	Fetal Kidney	kidney
24	chr5:68644400-68649000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:68644400-68650600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:68644600-68648200	Weak transcription	Brain Substantia Nigra	brain
27	chr5:68644800-68646600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:68644800-68658200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:68644800-68660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:68645000-68647000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:68645200-68660600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:68645600-68646400	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:68645600-68646600	Strong transcription	Brain Germinal Matrix	brain
34	chr5:68645600-68646600	Strong transcription	Fetal Muscle Leg	muscle
35	chr5:68645600-68647600	Strong transcription	Fetal Intestine Small	intestine
36	chr5:68645600-68652200	Strong transcription	Adipose Nuclei	Adipose
37	chr5:68645600-68658400	Weak transcription	Gastric	stomach
38	chr5:68645800-68646400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:68645800-68646400	Strong transcription	Aorta	Aorta
40	chr5:68645800-68646400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr5:68645800-68646400	Strong transcription	Lung	lung
42	chr5:68645800-68646400	Strong transcription	Thymus	Thymus
43	chr5:68645800-68646600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:68645800-68646600	Strong transcription	Left Ventricle	heart
45	chr5:68645800-68646600	Strong transcription	Ovary	ovary
46	chr5:68645800-68646600	Strong transcription	Psoas Muscle	Psoas
47	chr5:68645800-68646600	Strong transcription	NHDF-Ad	bronchial
48	chr5:68645800-68646800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:68645800-68646800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:68645800-68646800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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