Variant report

Variant	rs7532164
Chromosome Location	chr1:150194485-150194486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150193547..150195592-chr1:150205790..150208729,2	K562	blood:
2	chr1:150189750..150195131-chr1:150205866..150208722,4	MCF-7	breast:
3	chr1:150193985..150195637-chr1:150200236..150201823,2	K562	blood:
4	chr1:150193027..150195228-chr1:150205376..150206988,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143401	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10788872	0.84[ASN][1000 genomes]
rs10888575	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10888576	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11205339	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11205340	0.94[ASN][1000 genomes]
rs11205343	0.94[ASN][1000 genomes]
rs11205347	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11205348	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11205350	0.80[EUR][1000 genomes]
rs11811787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12131063	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12133235	0.94[ASN][1000 genomes]
rs12133238	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12569047	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1535873	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1924549	0.92[ASN][1000 genomes]
rs2038752	0.94[ASN][1000 genomes]
rs2038753	0.94[ASN][1000 genomes]
rs3118124	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3121000	0.90[ASN][1000 genomes]
rs3121001	0.94[ASN][1000 genomes]
rs4408187	0.94[ASN][1000 genomes]
rs55647200	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55956539	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59507173	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61161619	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6587753	0.94[ASN][1000 genomes]
rs6655935	0.92[ASN][1000 genomes]
rs6660127	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6665499	0.94[ASN][1000 genomes]
rs6668679	0.80[EUR][1000 genomes]
rs6680040	0.95[ASN][1000 genomes]
rs6682434	0.96[ASN][1000 genomes]
rs6692738	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6694215	0.94[ASN][1000 genomes]
rs6703332	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7535712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7548543	0.94[ASN][1000 genomes]
rs7550600	0.85[EUR][1000 genomes]
rs7551023	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7555995	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 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	chr1:150184200-150195800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:150184200-150206600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:150186200-150196400	Weak transcription	HepG2	liver
4	chr1:150186200-150206800	Weak transcription	Spleen	Spleen
5	chr1:150186400-150195600	Weak transcription	Left Ventricle	heart
6	chr1:150186400-150196400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:150186400-150206000	Weak transcription	Colonic Mucosa	Colon
8	chr1:150186400-150206800	Weak transcription	Esophagus	oesophagus
9	chr1:150186600-150196600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:150186600-150196600	Weak transcription	Ovary	ovary
11	chr1:150186600-150196800	Weak transcription	Fetal Brain Female	brain
12	chr1:150186600-150197000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:150186600-150197200	Weak transcription	NHLF	lung
14	chr1:150186600-150205200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:150186600-150205800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:150186600-150205800	Weak transcription	Right Atrium	heart
17	chr1:150186600-150206000	Weak transcription	Fetal Brain Male	brain
18	chr1:150186600-150206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:150186600-150206200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:150186600-150206400	Weak transcription	Aorta	Aorta
21	chr1:150186800-150194800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:150186800-150195200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:150186800-150195800	Weak transcription	Thymus	Thymus
24	chr1:150186800-150196400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:150186800-150196400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:150186800-150196400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:150186800-150196400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:150186800-150196600	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:150186800-150196600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:150186800-150196600	Weak transcription	Right Ventricle	heart
31	chr1:150186800-150196800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:150186800-150196800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:150186800-150196800	Weak transcription	HSMMtube	muscle
34	chr1:150186800-150197000	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:150186800-150197000	Weak transcription	Fetal Kidney	kidney
36	chr1:150186800-150197000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:150186800-150197200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:150186800-150197200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:150186800-150197200	Weak transcription	Brain Angular Gyrus	brain
40	chr1:150186800-150197200	Weak transcription	Fetal Heart	heart
41	chr1:150186800-150197400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:150186800-150198400	Weak transcription	Psoas Muscle	Psoas
43	chr1:150186800-150198800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:150186800-150205800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:150186800-150205800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:150186800-150205800	Weak transcription	Brain Germinal Matrix	brain
47	chr1:150186800-150205800	Weak transcription	Brain Substantia Nigra	brain
48	chr1:150186800-150206800	Weak transcription	Pancreas	Pancrea
49	chr1:150187000-150196200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:150189000-150204600	Strong transcription	Dnd41	blood

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