Variant report

Variant	rs60387319
Chromosome Location	chr1:153494217-153494218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153491196..153497339-chr1:153538209..153542553,6	MCF-7	breast:
2	chr1:153492067..153494690-chr1:153506772..153509509,2	MCF-7	breast:
3	chr1:153493940..153496088-chr1:153496990..153499406,2	K562	blood:
4	chr1:153487607..153489712-chr1:153493961..153496551,2	MCF-7	breast:
5	chr1:153493804..153495495-chr1:153498906..153501485,2	K562	blood:
6	chr1:153492181..153495094-chr1:153498850..153501392,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196754	Chromatin interaction
ENSG00000197956	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16835344	1.00[AMR][1000 genomes]
rs16835349	1.00[AMR][1000 genomes]
rs16835352	1.00[AMR][1000 genomes]
rs2986203	1.00[AMR][1000 genomes]
rs2986204	1.00[AMR][1000 genomes]
rs2986205	1.00[AMR][1000 genomes]
rs2986207	1.00[AMR][1000 genomes]
rs3006432	1.00[AMR][1000 genomes]
rs3014830	1.00[AMR][1000 genomes]
rs3014844	1.00[AMR][1000 genomes]
rs3014852	1.00[AMR][1000 genomes]
rs3118476	1.00[AMR][1000 genomes]
rs58408424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022422	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022487	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022488	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022493	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022495	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024403	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024420	0.98[AFR][1000 genomes]
rs73024423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9003	1.00[AMR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153481200-153503600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:153483800-153497800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:153488600-153498200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:153488800-153497800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:153489000-153497800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:153489000-153497800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:153489000-153498000	Weak transcription	Esophagus	oesophagus
8	chr1:153489000-153498000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:153489000-153506000	Weak transcription	Gastric	stomach
10	chr1:153489400-153498200	Weak transcription	Hela-S3	cervix
11	chr1:153491400-153495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:153491800-153498400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:153492000-153499200	Weak transcription	Fetal Thymus	thymus
14	chr1:153492200-153495000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:153492400-153495000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:153492400-153498400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:153493000-153499400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:153493600-153495200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:153493600-153497800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:153493600-153497800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:153493600-153497800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:153493600-153497800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:153493600-153497800	Weak transcription	K562	blood
24	chr1:153493600-153498000	Weak transcription	Pancreas	Pancrea
25	chr1:153493600-153504000	Weak transcription	Colonic Mucosa	Colon
26	chr1:153493800-153497400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:153493800-153497400	Weak transcription	NHEK	skin
28	chr1:153493800-153497800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:153493800-153498000	Weak transcription	Placenta	Placenta
30	chr1:153494000-153495200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:153494000-153495400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:153494000-153497200	Weak transcription	HMEC	breast
33	chr1:153494000-153497400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:153494000-153497800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:153494000-153498200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:153494200-153494600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:153494200-153495200	Weak transcription	Fetal Intestine Large	intestine
38	chr1:153494200-153498000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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