Variant report

Variant	rs930318
Chromosome Location	chr3:24630161-24630162
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	chr3:24561637..24564260-chr3:24630059..24632291,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265028	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11710847	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11710944	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2043582	0.89[EUR][1000 genomes]
rs2043583	0.89[EUR][1000 genomes]
rs2099518	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2196437	0.84[ASN][1000 genomes]
rs6794846	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7647540	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs768943	0.84[AMR][1000 genomes]
rs9850443	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][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	nsv834641	chr3:24465862-24633738	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv834642	chr3:24475558-24640593	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv999384	chr3:24525345-24656873	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24621200-24633400	Weak transcription	K562	blood
2	chr3:24628800-24633000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:24629200-24630200	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:24629400-24630200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:24629400-24630200	Enhancers	Psoas Muscle	Psoas
6	chr3:24629400-24630200	Enhancers	HUVEC	blood vessel
7	chr3:24629400-24631000	Flanking Active TSS	Fetal Intestine Large	intestine
8	chr3:24629600-24630200	Enhancers	Right Atrium	heart
9	chr3:24629600-24631800	Enhancers	Colon Smooth Muscle	Colon
10	chr3:24629600-24631800	Flanking Active TSS	Fetal Intestine Small	intestine
11	chr3:24629600-24632000	Enhancers	Duodenum Mucosa	Duodenum
12	chr3:24629600-24632000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:24629600-24632200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:24629600-24633600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr3:24629800-24630200	Enhancers	Left Ventricle	heart
16	chr3:24629800-24630600	Enhancers	Stomach Mucosa	stomach
17	chr3:24629800-24630800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr3:24629800-24630800	Enhancers	Small Intestine	intestine
19	chr3:24629800-24631000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr3:24629800-24631000	Enhancers	Fetal Heart	heart
21	chr3:24629800-24631200	Enhancers	Adipose Nuclei	Adipose
22	chr3:24629800-24631400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr3:24629800-24631800	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:24629800-24632000	Enhancers	Fetal Stomach	stomach
25	chr3:24629800-24633200	Enhancers	Fetal Lung	lung
26	chr3:24630000-24630200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr3:24630000-24630200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr3:24630000-24631200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:24630000-24632000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:24630000-24632000	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links