Variant report

Variant	rs73351628
Chromosome Location	chr5:179241857-179241858
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	chr5:179049277..179051716-chr5:179241526..179243213,2	K562	blood:

Variant related genes	Relation type
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs55915939	0.84[AFR][1000 genomes]
rs55967209	0.84[AFR][1000 genomes]
rs56093222	0.84[AFR][1000 genomes]
rs56719864	0.84[AFR][1000 genomes]
rs57463529	0.88[AFR][1000 genomes]
rs58722253	0.88[AFR][1000 genomes]
rs59108011	1.00[AFR][1000 genomes]
rs59566858	0.88[AFR][1000 genomes]
rs59651103	0.88[AFR][1000 genomes]
rs59721505	0.88[AFR][1000 genomes]
rs59745533	0.88[AFR][1000 genomes]
rs59824837	0.88[AFR][1000 genomes]
rs60485189	0.84[AFR][1000 genomes]
rs60716268	0.84[AFR][1000 genomes]
rs61682673	0.88[AFR][1000 genomes]
rs66685266	0.84[AFR][1000 genomes]
rs66686562	0.84[AFR][1000 genomes]
rs67211456	0.84[AFR][1000 genomes]
rs67637906	0.84[AFR][1000 genomes]
rs67832593	0.84[AFR][1000 genomes]
rs67952129	0.84[AFR][1000 genomes]
rs73338115	0.80[AFR][1000 genomes]
rs73342167	0.88[AFR][1000 genomes]
rs73347986	0.88[AFR][1000 genomes]
rs73349908	0.88[AFR][1000 genomes]
rs73351608	0.85[AFR][1000 genomes]
rs73351620	1.00[AFR][1000 genomes]
rs73351626	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
10	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
11	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
12	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
13	nsv600668	chr5:179227865-179242581	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
15	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179233400-179244400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:179234400-179243800	Weak transcription	Aorta	Aorta
3	chr5:179234600-179242800	Weak transcription	Esophagus	oesophagus
4	chr5:179234600-179242800	Weak transcription	Gastric	stomach
5	chr5:179234600-179243600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:179234600-179243600	Weak transcription	Brain Substantia Nigra	brain
7	chr5:179234600-179243600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:179234600-179243800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:179234600-179244000	Weak transcription	NHDF-Ad	bronchial
10	chr5:179234600-179244200	Weak transcription	NHEK	skin
11	chr5:179234600-179245200	Weak transcription	HSMMtube	muscle
12	chr5:179234600-179245800	Weak transcription	Fetal Kidney	kidney
13	chr5:179234800-179243600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:179234800-179243600	Weak transcription	Brain Angular Gyrus	brain
15	chr5:179234800-179243600	Weak transcription	Osteobl	bone
16	chr5:179235000-179243600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:179235000-179243600	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:179235000-179243600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:179235200-179242600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:179235200-179243400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:179235200-179243400	Weak transcription	Right Atrium	heart
22	chr5:179235200-179243600	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:179235400-179243200	Weak transcription	Pancreas	Pancrea
24	chr5:179235400-179243400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:179235400-179243400	Weak transcription	Colonic Mucosa	Colon
26	chr5:179235400-179243400	Weak transcription	GM12878-XiMat	blood
27	chr5:179235400-179243600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:179235400-179243600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:179235400-179243600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:179235400-179243600	Weak transcription	HUVEC	blood vessel
31	chr5:179235400-179243600	Weak transcription	NH-A	brain
32	chr5:179235400-179243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:179235400-179243800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:179235600-179243200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:179235600-179244400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:179235800-179243400	Weak transcription	Primary B cells from cord blood	blood
37	chr5:179237800-179242600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:179237800-179243600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:179238000-179242600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:179238000-179243200	Strong transcription	A549	lung
41	chr5:179238000-179243400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:179238200-179242600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:179238200-179243000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:179238200-179243600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:179238400-179243000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:179238400-179243400	Strong transcription	Brain Germinal Matrix	brain
47	chr5:179238600-179242000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:179238600-179242000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr5:179238600-179243000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:179238600-179243000	Strong transcription	Fetal Brain Female	brain

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