Variant report

Variant	rs72990256
Chromosome Location	chr3:141733043-141733044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141726584..141729404-chr3:141730969..141736139,5	K562	blood:
2	chr3:141732044..141735482-chr3:141738671..141741539,4	MCF-7	breast:
3	chr3:141726568..141728875-chr3:141730614..141735743,6	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57040056	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57528906	1.00[AMR][1000 genomes]
rs57535573	1.00[AMR][1000 genomes]
rs60203764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60311564	0.89[AFR][1000 genomes]
rs6768288	0.95[AFR][1000 genomes]
rs6793216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6803712	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990253	1.00[AMR][1000 genomes]
rs72990257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72990274	1.00[AMR][1000 genomes]
rs72995068	1.00[AMR][1000 genomes]
rs7634385	1.00[AMR][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers 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	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking 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	26 gene(s)	inside rSNPs	diseases
5	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv877553	chr3:141732321-141786073	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
2	chr3:141671800-141735600	Weak transcription	Aorta	Aorta
3	chr3:141677800-141739000	Weak transcription	Left Ventricle	heart
4	chr3:141678800-141745600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:141682800-141739000	Weak transcription	Pancreas	Pancrea
6	chr3:141682800-141745800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:141682800-141746200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:141683800-141746600	Weak transcription	Lung	lung
9	chr3:141698600-141738800	Weak transcription	HSMM	muscle
10	chr3:141706400-141746200	Weak transcription	Fetal Lung	lung
11	chr3:141707200-141734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:141708600-141745200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:141716000-141738600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:141716000-141745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:141719600-141738600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:141719600-141738600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:141719600-141739000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:141720200-141738000	Weak transcription	Fetal Intestine Large	intestine
19	chr3:141720200-141746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:141720400-141737400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:141720400-141742600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:141721600-141739000	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:141722600-141735600	Weak transcription	Thymus	Thymus
24	chr3:141722600-141745400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:141723400-141745400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:141723400-141745400	Weak transcription	Fetal Kidney	kidney
27	chr3:141723600-141738400	Weak transcription	Primary B cells from cord blood	blood
28	chr3:141724400-141738600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:141724400-141741200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:141724400-141745000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:141724600-141738400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:141724600-141738400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:141728200-141746200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:141729400-141736600	Weak transcription	Fetal Intestine Small	intestine
35	chr3:141730400-141734600	Strong transcription	Fetal Thymus	thymus
36	chr3:141731400-141735600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:141731400-141738200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:141731400-141745400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:141731600-141733400	Enhancers	Rectal Smooth Muscle	rectum
40	chr3:141731800-141735600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:141732000-141733200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:141732000-141733600	Weak transcription	Dnd41	blood
43	chr3:141732200-141733200	Enhancers	Adipose Nuclei	Adipose
44	chr3:141732200-141733800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:141732400-141733200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:141732400-141733400	Enhancers	Fetal Stomach	stomach
47	chr3:141732400-141734000	Enhancers	Stomach Smooth Muscle	stomach
48	chr3:141732800-141733200	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:141732800-141733600	Enhancers	K562	blood
50	chr3:141733000-141733400	Enhancers	Primary hematopoietic stem cells	blood

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