Variant report

Variant	rs73130430
Chromosome Location	chr1:224470666-224470667
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	chr1:224470437..224472026-chr1:224479810..224482251,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143748	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs35958886	0.86[AFR][1000 genomes]
rs58910009	0.86[AFR][1000 genomes]
rs59213363	0.86[AFR][1000 genomes]
rs60528552	0.86[AFR][1000 genomes]
rs73118057	0.86[AFR][1000 genomes]
rs73125517	0.86[AFR][1000 genomes]
rs73125537	0.86[AFR][1000 genomes]
rs73127505	0.86[AFR][1000 genomes]
rs73127545	0.86[AFR][1000 genomes]
rs73130432	0.86[AFR][1000 genomes]
rs73130434	0.86[AFR][1000 genomes]
rs73130446	0.86[AFR][1000 genomes]
rs73130467	0.86[AFR][1000 genomes]
rs7524485	0.86[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
2	chr1:224412400-224473600	Weak transcription	HepG2	liver
3	chr1:224424600-224479600	Weak transcription	Pancreas	Pancrea
4	chr1:224431200-224490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
6	chr1:224434400-224474800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:224434400-224474800	Weak transcription	Fetal Brain Male	brain
8	chr1:224436800-224473600	Weak transcription	Gastric	stomach
9	chr1:224437000-224475200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:224437000-224476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:224437000-224479600	Weak transcription	Right Ventricle	heart
12	chr1:224437600-224474800	Weak transcription	Colonic Mucosa	Colon
13	chr1:224438000-224474600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:224439800-224501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:224440400-224474800	Weak transcription	Fetal Kidney	kidney
16	chr1:224444600-224479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:224445400-224482000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:224450600-224473600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:224450800-224472200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:224450800-224480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:224452800-224472400	Weak transcription	Brain Germinal Matrix	brain
22	chr1:224454800-224475400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:224454800-224480000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:224455000-224472200	Weak transcription	HSMMtube	muscle
25	chr1:224455000-224474800	Weak transcription	Ovary	ovary
26	chr1:224455000-224480200	Weak transcription	Psoas Muscle	Psoas
27	chr1:224456000-224474600	Weak transcription	Brain Anterior Caudate	brain
28	chr1:224457200-224479600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:224461200-224505600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:224461600-224475400	Weak transcription	Lung	lung
31	chr1:224462000-224473800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:224462200-224479600	Weak transcription	Spleen	Spleen
33	chr1:224463000-224473600	Weak transcription	NHLF	lung
34	chr1:224463200-224473600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:224463200-224473600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:224463200-224473600	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:224463200-224473600	Weak transcription	Fetal Lung	lung
38	chr1:224463200-224473600	Weak transcription	Left Ventricle	heart
39	chr1:224463200-224474800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:224463200-224474800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:224463200-224474800	Weak transcription	Brain Substantia Nigra	brain
42	chr1:224463200-224474800	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:224463400-224474200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:224463800-224474400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:224464000-224475200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:224464800-224474400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:224464800-224474800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:224465000-224487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:224465000-224488000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:224465000-224504400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links