Variant report

Variant	rs59732929
Chromosome Location	chr1:169071447-169071448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169064466..169066505-chr1:169069243..169071923,2	MCF-7	breast:
2	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203601	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12061601	0.98[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12079856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751593	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1320976	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320977	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534984	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892092	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892093	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362572	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28362573	0.93[ASN][1000 genomes]
rs4656647	0.88[EUR][1000 genomes]
rs6672876	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169064800-169071600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:169067600-169071800	Enhancers	Brain Angular Gyrus	brain
3	chr1:169067800-169071600	Enhancers	Brain Substantia Nigra	brain
4	chr1:169068000-169074600	Enhancers	Fetal Heart	heart
5	chr1:169068400-169071600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:169068800-169072400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:169068800-169074600	Enhancers	Fetal Intestine Large	intestine
8	chr1:169068800-169074600	Enhancers	Fetal Intestine Small	intestine
9	chr1:169069000-169072400	Weak transcription	Fetal Kidney	kidney
10	chr1:169069000-169072800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:169069200-169074400	Enhancers	HepG2	liver
12	chr1:169069400-169071600	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:169069400-169071600	Enhancers	Brain Hippocampus Middle	brain
14	chr1:169069600-169071600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr1:169069600-169071800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:169069800-169071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:169069800-169071800	Weak transcription	Right Ventricle	heart
18	chr1:169070000-169071600	Weak transcription	Right Atrium	heart
19	chr1:169070000-169071600	Weak transcription	Small Intestine	intestine
20	chr1:169070000-169073800	Weak transcription	Gastric	stomach
21	chr1:169070200-169071800	Weak transcription	Pancreas	Pancrea
22	chr1:169070400-169071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:169070400-169072800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:169070400-169073000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:169070400-169073000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:169070600-169071600	Enhancers	Brain Anterior Caudate	brain
27	chr1:169070600-169072400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:169070600-169072400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:169070600-169074400	Enhancers	A549	lung
30	chr1:169070600-169074600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:169070800-169071600	Active TSS	Rectal Smooth Muscle	rectum
32	chr1:169070800-169071800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:169070800-169073000	Enhancers	Left Ventricle	heart
34	chr1:169070800-169074200	Weak transcription	Liver	Liver
35	chr1:169071000-169071600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:169071000-169071600	Enhancers	NH-A	brain
37	chr1:169071000-169072200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:169071000-169072400	Active TSS	Colonic Mucosa	Colon
39	chr1:169071000-169072600	Enhancers	HSMMtube	muscle
40	chr1:169071000-169073000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:169071000-169074000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:169071200-169071600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr1:169071200-169071600	Flanking Active TSS	Stomach Mucosa	stomach
44	chr1:169071200-169071800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:169071200-169072000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:169071200-169072000	Enhancers	HUVEC	blood vessel
47	chr1:169071200-169072400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:169071200-169072400	Enhancers	Esophagus	oesophagus
49	chr1:169071200-169072600	Enhancers	NHLF	lung
50	chr1:169071200-169073000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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