Variant report

Variant	rs60485346
Chromosome Location	chr7:140017800-140017801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139873831..139877475-chr7:140012242..140019161,9	MCF-7	breast:
2	chr7:140003129..140009929-chr7:140011645..140017997,10	MCF-7	breast:
3	chr7:139874735..139878684-chr7:140013731..140018103,7	MCF-7	breast:
4	chr7:140015118..140018618-chr7:140021344..140024336,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006459	Chromatin interaction
ENSG00000260231	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10085561	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10085565	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10237808	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12533908	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28483540	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4551259	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55938265	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58630294	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6952512	0.97[ASN][1000 genomes]
rs6952838	0.98[ASN][1000 genomes]
rs6956771	0.97[ASN][1000 genomes]
rs7776930	0.97[ASN][1000 genomes]
rs7790724	0.97[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	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140013200-140017800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:140013600-140018600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr7:140015600-140022000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:140015800-140018200	Enhancers	K562	blood
5	chr7:140016000-140022400	Weak transcription	Gastric	stomach
6	chr7:140016200-140025600	Weak transcription	Right Atrium	heart
7	chr7:140016200-140026000	Weak transcription	Fetal Kidney	kidney
8	chr7:140016200-140034000	Weak transcription	Pancreas	Pancrea
9	chr7:140016400-140019800	Weak transcription	Primary B cells from cord blood	blood
10	chr7:140016400-140020400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:140016400-140025600	Weak transcription	Placenta	Placenta
12	chr7:140016400-140025800	Weak transcription	Ovary	ovary
13	chr7:140016800-140025600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:140016800-140025600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:140016800-140025800	Weak transcription	Osteobl	bone
16	chr7:140016800-140034200	Weak transcription	Small Intestine	intestine
17	chr7:140017000-140017800	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:140017000-140019800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:140017000-140022400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:140017000-140023800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:140017000-140024000	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:140017000-140025600	Weak transcription	Fetal Intestine Small	intestine
23	chr7:140017000-140025600	Weak transcription	Hela-S3	cervix
24	chr7:140017000-140025600	Weak transcription	HepG2	liver
25	chr7:140017000-140025800	Weak transcription	Adipose Nuclei	Adipose
26	chr7:140017000-140033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:140017200-140032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:140017400-140018000	Weak transcription	Fetal Brain Female	brain
29	chr7:140017400-140025800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:140017600-140018000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr7:140017600-140022400	Weak transcription	Stomach Mucosa	stomach
32	chr7:140017600-140025800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:140017600-140033600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:140017600-140034000	Weak transcription	HMEC	breast
35	chr7:140017800-140018000	Enhancers	Brain Hippocampus Middle	brain
36	chr7:140017800-140018200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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