Variant report

Variant	rs73130432
Chromosome Location	chr1:224474740-224474741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs35958886	1.00[AFR][1000 genomes]
rs58910009	1.00[AFR][1000 genomes]
rs59213363	1.00[AFR][1000 genomes]
rs60528552	1.00[AFR][1000 genomes]
rs73118057	1.00[AFR][1000 genomes]
rs73125515	0.86[AFR][1000 genomes]
rs73125517	1.00[AFR][1000 genomes]
rs73125520	0.86[AFR][1000 genomes]
rs73125537	1.00[AFR][1000 genomes]
rs73127505	1.00[AFR][1000 genomes]
rs73127545	1.00[AFR][1000 genomes]
rs73130430	0.86[AFR][1000 genomes]
rs73130434	1.00[AFR][1000 genomes]
rs73130446	1.00[AFR][1000 genomes]
rs73130467	1.00[AFR][1000 genomes]
rs7524485	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 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	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
2	chr1:224424600-224479600	Weak transcription	Pancreas	Pancrea
3	chr1:224431200-224490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
5	chr1:224434400-224474800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:224434400-224474800	Weak transcription	Fetal Brain Male	brain
7	chr1:224437000-224475200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:224437000-224476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:224437000-224479600	Weak transcription	Right Ventricle	heart
10	chr1:224437600-224474800	Weak transcription	Colonic Mucosa	Colon
11	chr1:224439800-224501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:224440400-224474800	Weak transcription	Fetal Kidney	kidney
13	chr1:224444600-224479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:224445400-224482000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:224450800-224480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:224454800-224475400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:224454800-224480000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:224455000-224474800	Weak transcription	Ovary	ovary
19	chr1:224455000-224480200	Weak transcription	Psoas Muscle	Psoas
20	chr1:224457200-224479600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:224461200-224505600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:224461600-224475400	Weak transcription	Lung	lung
23	chr1:224462200-224479600	Weak transcription	Spleen	Spleen
24	chr1:224463200-224474800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:224463200-224474800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:224463200-224474800	Weak transcription	Brain Substantia Nigra	brain
27	chr1:224463200-224474800	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:224464000-224475200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:224464800-224474800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:224465000-224487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:224465000-224488000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:224465000-224504400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:224465000-224504400	Strong transcription	Liver	Liver
34	chr1:224465000-224505200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:224465000-224505600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:224465200-224475200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:224465200-224487000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:224465400-224477600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:224465400-224505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:224465600-224477600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:224465600-224477800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:224466000-224475400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:224466200-224484200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:224466200-224487800	Strong transcription	NH-A	brain
45	chr1:224466400-224475400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:224466400-224481200	Weak transcription	Small Intestine	intestine
47	chr1:224466400-224505400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:224466400-224505400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:224466400-224505600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:224466600-224474800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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