Variant report

Variant	rs72804120
Chromosome Location	chr16:75314269-75314270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75282717..75287400-chr16:75313290..75317298,5	MCF-7	breast:
2	chr16:75305411..75308006-chr16:75310161..75314701,4	MCF-7	breast:
3	chr16:75311909..75314850-chr16:75324692..75326248,2	MCF-7	breast:
4	chr16:75311251..75314643-chr16:75315165..75318311,4	K562	blood:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs17605723	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17605814	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17606084	0.89[EUR][1000 genomes]
rs17674257	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs187435	0.85[EUR][1000 genomes]
rs2454860	0.86[EUR][1000 genomes]
rs247429	0.85[EUR][1000 genomes]
rs247441	0.85[EUR][1000 genomes]
rs37590	0.82[EUR][1000 genomes]
rs391192	0.87[EUR][1000 genomes]
rs4243113	0.87[EUR][1000 genomes]
rs469176	0.85[EUR][1000 genomes]
rs58518445	0.86[EUR][1000 genomes]
rs6564246	0.94[EUR][1000 genomes]
rs66885758	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66886787	0.86[EUR][1000 genomes]
rs67836283	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7185976	0.87[EUR][1000 genomes]
rs7192448	0.89[EUR][1000 genomes]
rs7193299	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7199718	0.89[EUR][1000 genomes]
rs7202997	0.89[EUR][1000 genomes]
rs72787117	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72787126	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72787129	0.90[EUR][1000 genomes]
rs72787135	0.87[EUR][1000 genomes]
rs72787147	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72787159	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72787163	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72787169	0.82[EUR][1000 genomes]
rs72804118	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72804135	0.90[EUR][1000 genomes]
rs72804140	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804141	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804154	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804155	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804160	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804161	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72804162	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8044442	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8055093	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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 target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
11	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75301000-75325000	Weak transcription	Liver	Liver
2	chr16:75301800-75321800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:75302000-75315800	Weak transcription	Fetal Brain Female	brain
4	chr16:75302000-75324000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:75302400-75314600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:75306200-75325000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr16:75306200-75325200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr16:75306400-75321600	Weak transcription	Right Atrium	heart
9	chr16:75307600-75316400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:75307600-75316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:75307600-75321600	Weak transcription	Lung	lung
12	chr16:75307800-75318600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:75307800-75320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr16:75307800-75323000	Weak transcription	NHLF	lung
15	chr16:75307800-75325400	Weak transcription	Osteobl	bone
16	chr16:75311600-75321200	Weak transcription	Spleen	Spleen
17	chr16:75312000-75316000	Weak transcription	Fetal Intestine Small	intestine
18	chr16:75312000-75324400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:75312400-75315000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:75312400-75317000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr16:75312400-75317000	Enhancers	HMEC	breast
22	chr16:75312400-75317200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:75312600-75316400	Enhancers	NHEK	skin
24	chr16:75312600-75316800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:75312800-75314800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:75312800-75315200	Enhancers	Fetal Muscle Trunk	muscle
27	chr16:75313000-75314600	Enhancers	Fetal Heart	heart
28	chr16:75313000-75315400	Enhancers	Fetal Muscle Leg	muscle
29	chr16:75313200-75315000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr16:75313400-75314400	Enhancers	Placenta	Placenta
31	chr16:75313400-75314600	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:75313400-75324600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr16:75313400-75325200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr16:75313400-75325200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:75313600-75314400	Weak transcription	HSMM	muscle
36	chr16:75313600-75316200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr16:75313600-75316200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:75313600-75316400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr16:75313600-75318600	Weak transcription	Fetal Stomach	stomach
40	chr16:75313600-75321000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:75313600-75321600	Weak transcription	Left Ventricle	heart
42	chr16:75313600-75321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:75313600-75321800	Weak transcription	Gastric	stomach
44	chr16:75313600-75321800	Weak transcription	HUVEC	blood vessel
45	chr16:75313600-75322000	Weak transcription	Fetal Intestine Large	intestine
46	chr16:75313600-75322200	Weak transcription	Adipose Nuclei	Adipose
47	chr16:75313600-75323200	Weak transcription	HepG2	liver
48	chr16:75313600-75323800	Weak transcription	Ovary	ovary
49	chr16:75313600-75325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr16:75313600-75330400	Weak transcription	Pancreas	Pancrea

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