Variant report

Variant	rs72934837
Chromosome Location	chr3:50428045-50428046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50392667..50394424-chr3:50425965..50428609,2	MCF-7	breast:
2	chr3:50335068..50338048-chr3:50427716..50429886,2	MCF-7	breast:
3	chr3:50419009..50422090-chr3:50424618..50428241,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243477	Chromatin interaction
ENSG00000186792	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17050967	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050976	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050977	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57278600	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113322	0.82[AFR][1000 genomes]
rs59164803	1.00[AMR][1000 genomes]
rs61601450	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936957	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936959	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936972	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936980	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936982	1.00[AMR][1000 genomes]
rs72936989	0.82[AFR][1000 genomes]
rs72937000	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937001	0.82[AFR][1000 genomes]
rs72938708	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938719	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
6	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
8	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
9	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
10	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
13	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
14	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
17	nsv876778	chr3:50413707-50465518	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	nsv590271	chr3:50420554-50436716	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50411400-50430000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:50415200-50428400	Weak transcription	Brain Anterior Caudate	brain
3	chr3:50421600-50428200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:50424000-50431000	Enhancers	Fetal Muscle Leg	muscle
5	chr3:50424000-50433000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:50426000-50431400	Enhancers	Brain Germinal Matrix	brain
7	chr3:50426200-50428200	Weak transcription	Brain Angular Gyrus	brain
8	chr3:50426200-50429600	Enhancers	Pancreas	Pancrea
9	chr3:50426400-50431600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:50426400-50438000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:50426600-50429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:50426600-50434000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:50426800-50428200	Weak transcription	Fetal Brain Male	brain
14	chr3:50426800-50429000	Enhancers	Fetal Intestine Large	intestine
15	chr3:50426800-50429400	Enhancers	Fetal Intestine Small	intestine
16	chr3:50427000-50428200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:50427200-50430400	Enhancers	Fetal Muscle Trunk	muscle
18	chr3:50427400-50429600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:50427600-50429600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:50427600-50429600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:50427600-50430000	Enhancers	HMEC	breast
22	chr3:50427800-50428600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr3:50427800-50428800	Enhancers	Small Intestine	intestine
24	chr3:50427800-50429000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:50427800-50429400	Enhancers	Fetal Heart	heart
26	chr3:50427800-50429600	Enhancers	HSMMtube	muscle
27	chr3:50427800-50429800	Enhancers	Spleen	Spleen
28	chr3:50427800-50430000	Enhancers	Duodenum Mucosa	Duodenum
29	chr3:50427800-50430000	Enhancers	Stomach Mucosa	stomach
30	chr3:50427800-50430800	Enhancers	Right Atrium	heart
31	chr3:50428000-50428200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr3:50428000-50428400	Bivalent Enhancer	HepG2	liver
33	chr3:50428000-50428400	Enhancers	K562	blood
34	chr3:50428000-50428600	Bivalent Enhancer	NHEK	skin
35	chr3:50428000-50428800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:50428000-50429000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:50428000-50429000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:50428000-50429000	Enhancers	Colonic Mucosa	Colon
39	chr3:50428000-50429200	Enhancers	Fetal Stomach	stomach
40	chr3:50428000-50429600	Enhancers	Brain Hippocampus Middle	brain
41	chr3:50428000-50429600	Enhancers	Lung	lung
42	chr3:50428000-50429800	Enhancers	Esophagus	oesophagus
43	chr3:50428000-50429800	Enhancers	Gastric	stomach
44	chr3:50428000-50430000	Enhancers	Psoas Muscle	Psoas
45	chr3:50428000-50430000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr3:50428000-50430200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr3:50428000-50430200	Enhancers	Left Ventricle	heart
48	chr3:50428000-50430800	Enhancers	Right Ventricle	heart

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