Variant report

Variant	rs72965274
Chromosome Location	chr3:52497572-52497573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52493353..52494882-chr3:52496416..52498026,2	K562	blood:
2	chr3:52496100..52498800-chr3:52502914..52504460,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17052326	1.00[EUR][1000 genomes]
rs2577828	1.00[EUR][1000 genomes]
rs2577829	1.00[EUR][1000 genomes]
rs2577830	1.00[EUR][1000 genomes]
rs2590840	1.00[EUR][1000 genomes]
rs2590841	1.00[EUR][1000 genomes]
rs36010847	1.00[AMR][1000 genomes]
rs4234635	1.00[EUR][1000 genomes]
rs4234636	1.00[EUR][1000 genomes]
rs56866386	1.00[EUR][1000 genomes]
rs61734654	1.00[AMR][1000 genomes]
rs6766038	1.00[EUR][1000 genomes]
rs6771643	1.00[AMR][1000 genomes]
rs6786835	1.00[AMR][1000 genomes]
rs6787806	1.00[AMR][1000 genomes]
rs72947525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72947530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72947531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72947532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72947537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72947557	1.00[EUR][1000 genomes]
rs72959348	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS 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	117 gene(s)	inside rSNPs	diseases
2	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
3	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv1818902	chr3:52481406-52572056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52490800-52499200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:52491200-52498800	Strong transcription	Primary T cells from cord blood	blood
3	chr3:52491400-52500000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:52491400-52501600	Weak transcription	Right Atrium	heart
5	chr3:52491400-52502200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:52491600-52499600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:52491600-52500000	Strong transcription	Fetal Intestine Large	intestine
8	chr3:52491600-52500600	Strong transcription	Fetal Intestine Small	intestine
9	chr3:52491600-52509400	Weak transcription	Small Intestine	intestine
10	chr3:52491600-52528000	Strong transcription	Thymus	Thymus
11	chr3:52491800-52498400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:52491800-52498600	Strong transcription	Liver	Liver
13	chr3:52491800-52499400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:52491800-52499400	Strong transcription	Osteobl	bone
15	chr3:52491800-52499600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:52491800-52500000	Strong transcription	Lung	lung
17	chr3:52491800-52500200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:52491800-52502400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:52491800-52502400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:52491800-52502800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:52491800-52506400	Weak transcription	Stomach Mucosa	stomach
22	chr3:52491800-52517200	Strong transcription	Fetal Stomach	stomach
23	chr3:52491800-52524000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:52491800-52527000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:52491800-52528200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:52491800-52528200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:52492000-52500000	Strong transcription	Placenta	Placenta
28	chr3:52492000-52500600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr3:52492000-52502400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:52492000-52502600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr3:52492000-52503400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:52492000-52516800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:52492000-52517200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:52492200-52506200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:52492400-52517400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:52493000-52499400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:52493000-52502800	Strong transcription	Dnd41	blood
38	chr3:52493000-52506800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:52493000-52527800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:52493200-52497600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:52493200-52499400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:52493200-52500800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr3:52493200-52507000	Strong transcription	Fetal Thymus	thymus
44	chr3:52493400-52497600	Strong transcription	HMEC	breast
45	chr3:52493400-52499200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:52493400-52499200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:52493400-52499400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:52493400-52499400	Weak transcription	A549	lung
49	chr3:52493400-52499800	Weak transcription	Fetal Heart	heart
50	chr3:52493400-52502200	Weak transcription	Rectal Mucosa Donor 31	rectum

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