Variant report

Variant	rs72929346
Chromosome Location	chr3:67657216-67657217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11127716	1.00[AMR][1000 genomes]
rs11127717	1.00[AMR][1000 genomes]
rs11914829	0.89[AFR][1000 genomes]
rs11915709	0.89[AFR][1000 genomes]
rs11922408	1.00[AMR][1000 genomes]
rs11924268	0.82[AFR][1000 genomes]
rs17046684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17046689	0.85[AFR][1000 genomes]
rs17046856	1.00[AMR][1000 genomes]
rs2885692	0.86[AFR][1000 genomes]
rs57450793	0.85[AFR][1000 genomes]
rs60283689	0.85[AFR][1000 genomes]
rs72917975	1.00[AMR][1000 genomes]
rs72917977	1.00[AMR][1000 genomes]
rs72918956	1.00[AMR][1000 genomes]
rs72919762	1.00[AMR][1000 genomes]
rs72919766	1.00[AMR][1000 genomes]
rs72919767	1.00[AMR][1000 genomes]
rs72929333	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv876922	chr3:67635506-67755257	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv428739	chr3:67656829-67730379	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
2	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
3	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
4	chr3:67614000-67658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:67621200-67657600	Weak transcription	Fetal Stomach	stomach
6	chr3:67621800-67658000	Weak transcription	Thymus	Thymus
7	chr3:67622200-67657400	Weak transcription	Brain Substantia Nigra	brain
8	chr3:67624800-67658200	Weak transcription	Fetal Intestine Small	intestine
9	chr3:67629200-67675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:67629400-67658000	Weak transcription	Right Ventricle	heart
11	chr3:67631400-67700200	Weak transcription	K562	blood
12	chr3:67631800-67664600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:67638000-67657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:67639000-67662000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:67639200-67658600	Weak transcription	Colonic Mucosa	Colon
16	chr3:67640200-67678000	Weak transcription	Small Intestine	intestine
17	chr3:67640400-67658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:67642800-67658400	Weak transcription	HSMMtube	muscle
19	chr3:67644600-67657400	Weak transcription	Spleen	Spleen
20	chr3:67644600-67658600	Weak transcription	Esophagus	oesophagus
21	chr3:67645400-67657600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr3:67646200-67667400	Weak transcription	Psoas Muscle	Psoas
23	chr3:67647600-67658800	Weak transcription	HepG2	liver
24	chr3:67648400-67657600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr3:67649400-67658000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:67650000-67658200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:67651200-67658000	Weak transcription	Brain Anterior Caudate	brain
28	chr3:67651200-67664800	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:67651400-67657600	Weak transcription	Aorta	Aorta
30	chr3:67653200-67657600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:67653400-67658000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:67653400-67658400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:67653400-67658600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:67653400-67660200	Strong transcription	HSMM	muscle
35	chr3:67653400-67662200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:67653400-67669800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:67653600-67657400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:67653600-67658200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:67653600-67661600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:67653600-67664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:67653800-67659800	Strong transcription	HMEC	breast
42	chr3:67653800-67660400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:67653800-67671200	Weak transcription	Stomach Mucosa	stomach
44	chr3:67653800-67679600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:67654000-67658000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:67654000-67661600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr3:67654400-67661200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr3:67654400-67661400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr3:67654400-67661400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr3:67654600-67661600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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