Variant report

Variant	rs72953423
Chromosome Location	chr3:51717505-51717506
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	chr3:51704425..51707228-chr3:51714036..51717789,3	MCF-7	breast:
2	chr3:51533596..51535948-chr3:51713544..51717803,3	K562	blood:

Variant related genes	Relation type
ENSG00000145041	Chromatin interaction
ENSG00000164081	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs12330534	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13314120	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13321674	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13433729	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17051799	0.85[AMR][1000 genomes]
rs17051832	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17081501	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28421789	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28452990	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28457212	0.85[AMR][1000 genomes]
rs28653367	0.85[AMR][1000 genomes]
rs2883900	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4549265	0.85[AMR][1000 genomes]
rs56942057	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59064710	1.00[ASN][1000 genomes]
rs59525691	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60823123	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61440245	1.00[ASN][1000 genomes]
rs61737032	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951441	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951452	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951472	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951485	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72951486	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953413	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953417	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72953419	1.00[ASN][1000 genomes]
rs72953421	1.00[ASN][1000 genomes]
rs72953429	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7627636	1.00[ASN][1000 genomes]
rs904144	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9311470	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9808940	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9809757	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812008	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812682	1.00[ASN][1000 genomes]
rs9815684	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9816075	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9824779	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9826664	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9827665	0.85[AMR][1000 genomes]
rs9827917	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838294	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838942	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9838994	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839516	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9839608	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9842066	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9844541	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9846343	1.00[ASN][1000 genomes]
rs9855809	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9857893	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9858497	0.85[AMR][1000 genomes]
rs9864213	0.85[AMR][1000 genomes]
rs9864952	1.00[ASN][1000 genomes]
rs9866513	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9866604	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9870147	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9875460	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9880050	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9880909	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9881402	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9881844	0.85[AMR][1000 genomes]
rs9882601	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9990341	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51706400-51733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:51706400-51741000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:51706600-51719800	Weak transcription	Psoas Muscle	Psoas
4	chr3:51706600-51721200	Weak transcription	Fetal Brain Male	brain
5	chr3:51706600-51724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:51706600-51739600	Weak transcription	Small Intestine	intestine
7	chr3:51707800-51740400	Strong transcription	Fetal Intestine Small	intestine
8	chr3:51708000-51718600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:51708800-51738800	Strong transcription	Fetal Intestine Large	intestine
10	chr3:51709600-51718000	Weak transcription	NHDF-Ad	bronchial
11	chr3:51711800-51718000	Weak transcription	Brain Germinal Matrix	brain
12	chr3:51713600-51718600	Enhancers	Left Ventricle	heart
13	chr3:51714000-51718400	Weak transcription	Aorta	Aorta
14	chr3:51714000-51722400	Enhancers	Right Atrium	heart
15	chr3:51714400-51718400	Enhancers	Adipose Nuclei	Adipose
16	chr3:51714400-51719000	Genic enhancers	Stomach Smooth Muscle	stomach
17	chr3:51714400-51722200	Genic enhancers	Fetal Muscle Leg	muscle
18	chr3:51714400-51722400	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr3:51714800-51721000	Enhancers	Fetal Heart	heart
20	chr3:51715600-51717600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr3:51715800-51717800	Weak transcription	Gastric	stomach
22	chr3:51715800-51717800	Enhancers	Right Ventricle	heart
23	chr3:51715800-51721400	Genic enhancers	Fetal Thymus	thymus
24	chr3:51716000-51717600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:51716000-51717600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:51716000-51718400	Weak transcription	Lung	lung
27	chr3:51716000-51720000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:51716000-51720200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:51716200-51717600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr3:51716200-51717600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:51716200-51717800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:51716200-51717800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:51716200-51718000	Weak transcription	Brain Substantia Nigra	brain
34	chr3:51716200-51718000	Weak transcription	Ovary	ovary
35	chr3:51716200-51718000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:51716200-51718000	Weak transcription	NHLF	lung
37	chr3:51716200-51718200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:51716200-51718200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr3:51716200-51718200	Weak transcription	Brain Angular Gyrus	brain
40	chr3:51716200-51718400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:51716200-51718400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr3:51716200-51718600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:51716200-51718800	Enhancers	Primary hematopoietic stem cells	blood
44	chr3:51716200-51719000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:51716200-51719600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr3:51716200-51719600	Strong transcription	Fetal Stomach	stomach
47	chr3:51716200-51720000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:51716200-51720000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:51716200-51720000	Weak transcription	NH-A	brain
50	chr3:51716200-51720200	Strong transcription	Brain Hippocampus Middle	brain

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