Variant report

Variant	rs73112667
Chromosome Location	chr5:53359695-53359696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:53358841..53360820-chr5:53606506..53608137,2	K562	blood:
2	chr5:53353265..53354821-chr5:53357587..53360122,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10062384	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10068586	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28520123	0.87[EUR][1000 genomes]
rs28626747	0.89[EUR][1000 genomes]
rs57137430	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6859259	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6871337	0.89[EUR][1000 genomes]
rs6884003	0.82[EUR][1000 genomes]
rs6897728	0.92[EUR][1000 genomes]
rs73112674	1.00[EUR][1000 genomes]
rs73112677	0.97[EUR][1000 genomes]
rs73112679	0.97[EUR][1000 genomes]
rs73112680	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv880713	chr5:53198059-53906103	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv830299	chr5:53207020-53386600	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv881265	chr5:53305742-53504764	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv880619	chr5:53305742-53525671	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv881616	chr5:53305742-53639975	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv881018	chr5:53305742-53744849	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv880734	chr5:53305742-53770217	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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 miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv881161	chr5:53305742-53815495	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
12	nsv881600	chr5:53305742-53823285	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
13	nsv598176	chr5:53311502-53739530	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
14	nsv880773	chr5:53311918-53815495	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
15	nsv1024303	chr5:53317896-53788276	Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
16	nsv1029224	chr5:53317896-53812899	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
17	nsv949098	chr5:53317990-53816782	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
18	nsv1020517	chr5:53324930-53759046	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1015340	chr5:53326385-53471882	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1017768	chr5:53326385-53752165	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
21	nsv1032352	chr5:53327170-53762973	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
22	nsv598177	chr5:53333477-53755208	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
23	nsv328114	chr5:53357359-53361390	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53316200-53387400	Weak transcription	Left Ventricle	heart
2	chr5:53337400-53366400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:53341800-53364400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:53343000-53368000	Weak transcription	Pancreas	Pancrea
5	chr5:53343600-53376400	Weak transcription	K562	blood
6	chr5:53346000-53371200	Weak transcription	Aorta	Aorta
7	chr5:53346200-53363600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:53346400-53365600	Weak transcription	Fetal Stomach	stomach
9	chr5:53350200-53360400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:53355800-53366400	Weak transcription	Fetal Intestine Large	intestine
11	chr5:53356600-53369200	Weak transcription	Fetal Lung	lung
12	chr5:53357000-53408000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:53357400-53363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:53357600-53360200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:53357800-53366000	Weak transcription	Fetal Intestine Small	intestine
16	chr5:53357800-53369600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:53358000-53360800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:53358200-53359800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:53358200-53368800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:53358400-53360400	Enhancers	NHEK	skin
21	chr5:53358400-53360600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:53358600-53359800	Enhancers	HSMMtube	muscle
23	chr5:53358600-53359800	Flanking Active TSS	Osteobl	bone
24	chr5:53358600-53360000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:53358600-53360200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:53358600-53360200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:53358600-53360400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:53358600-53360400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:53358600-53360400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:53358600-53360400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:53358600-53360400	Enhancers	HMEC	breast
32	chr5:53358600-53360400	Enhancers	HSMM	muscle
33	chr5:53358600-53360400	Enhancers	NHLF	lung
34	chr5:53358600-53369600	Weak transcription	Gastric	stomach
35	chr5:53358800-53359800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:53359000-53359800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:53359000-53360400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:53359000-53360400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:53359400-53360600	Enhancers	A549	lung
40	chr5:53359400-53362800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:53359400-53363600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:53359400-53363600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:53359400-53363800	Weak transcription	Fetal Heart	heart
44	chr5:53359400-53366200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:53359400-53379800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:53359400-53380200	Weak transcription	Primary T cells from cord blood	blood
47	chr5:53359600-53359800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:53359600-53360000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:53359600-53360400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:53359600-53360400	Enhancers	NH-A	brain

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