Variant report

Variant	rs73759382
Chromosome Location	chr5:59980948-59980949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59976157..59978303-chr5:59980094..59983522,3	K562	blood:
2	chr5:59979528..59981743-chr5:60138984..60140817,2	K562	blood:
3	chr5:59978724..59981449-chr5:59990551..59993454,2	K562	blood:
4	chr5:59975344..59978303-chr5:59980316..59982465,2	K562	blood:

Variant related genes	Relation type
ENSG00000164181	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55871236	0.84[AFR][1000 genomes]
rs56147294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56376821	0.83[AFR][1000 genomes]
rs56814521	1.00[AMR][1000 genomes]
rs57521420	0.83[AFR][1000 genomes]
rs59913390	1.00[AMR][1000 genomes]
rs6891519	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6896976	0.80[AFR][1000 genomes]
rs73759329	1.00[AMR][1000 genomes]
rs73759337	1.00[AMR][1000 genomes]
rs73759359	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759360	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759361	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759411	0.83[AFR][1000 genomes]
rs73759415	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv968833	chr5:59976941-59986267	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:59956800-59981800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:59962600-59981000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:59962600-59981600	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:59962600-59985600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:59962600-59986800	Weak transcription	Fetal Stomach	stomach
7	chr5:59962600-59990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:59966000-59988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:59967400-59981800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:59968000-59981800	Weak transcription	Thymus	Thymus
11	chr5:59969400-59981400	Weak transcription	GM12878-XiMat	blood
12	chr5:59969600-59984000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:59969600-59994800	Weak transcription	Fetal Lung	lung
14	chr5:59970600-59981600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:59971000-59993800	Weak transcription	NHLF	lung
16	chr5:59971000-59994000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:59971000-59994200	Weak transcription	NH-A	brain
18	chr5:59971200-59981800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:59972400-59983200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:59973000-59984200	Weak transcription	Small Intestine	intestine
21	chr5:59973200-59985400	Weak transcription	HMEC	breast
22	chr5:59973600-59986000	Weak transcription	Primary B cells from cord blood	blood
23	chr5:59973800-59986600	Weak transcription	Osteobl	bone
24	chr5:59974000-59981600	Weak transcription	NHEK	skin
25	chr5:59974200-59981000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:59974200-59984200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:59974200-59994200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:59974400-59993600	Weak transcription	Hela-S3	cervix
29	chr5:59975400-59983800	Weak transcription	A549	lung
30	chr5:59977200-59981000	Weak transcription	Fetal Intestine Small	intestine
31	chr5:59977200-59981800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:59977200-59991000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:59977200-59991200	Weak transcription	Pancreas	Pancrea
34	chr5:59977200-59994800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:59977400-59984600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:59977600-59981800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:59977600-59983200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:59978600-59983200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:59978800-59983200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:59978800-59984200	Strong transcription	Dnd41	blood
41	chr5:59979000-59981800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:59979200-59981000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:59979200-59985000	Weak transcription	Fetal Brain Female	brain
44	chr5:59979600-59981600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:59980000-59981800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:59980000-59983200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:59980000-59983800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:59980200-59982800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:59980200-59982800	Strong transcription	HepG2	liver
50	chr5:59980200-59995200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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