Variant report

Variant	rs1398749
Chromosome Location	chr3:111456265-111456266
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	chr3:111456141..111458585-chr3:111526075..111527610,2	MCF-7	breast:
2	chr3:111452923..111457246-chr3:111577346..111581538,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144824	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1513332	1.00[ASN][1000 genomes]
rs1513333	1.00[ASN][1000 genomes]
rs35840064	1.00[ASN][1000 genomes]
rs35894167	1.00[ASN][1000 genomes]
rs4234402	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682062	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682300	1.00[ASN][1000 genomes]
rs4682301	1.00[ASN][1000 genomes]
rs57628489	1.00[ASN][1000 genomes]
rs60556634	1.00[ASN][1000 genomes]
rs6791600	1.00[ASN][1000 genomes]
rs7620801	1.00[ASN][1000 genomes]
rs7636559	1.00[ASN][1000 genomes]
rs7642808	1.00[ASN][1000 genomes]
rs7643067	1.00[ASN][1000 genomes]
rs7650348	1.00[ASN][1000 genomes]
rs7651391	1.00[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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591290	chr3:111427455-111462570	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111445200-111456800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:111451600-111460400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:111452200-111458200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:111452400-111458800	Enhancers	HMEC	breast
5	chr3:111452600-111457200	Enhancers	HSMM	muscle
6	chr3:111452800-111459200	Enhancers	Osteobl	bone
7	chr3:111452800-111460400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:111453000-111459400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr3:111453400-111458600	Enhancers	HSMMtube	muscle
10	chr3:111453600-111456800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:111453600-111456800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:111453600-111458800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:111453600-111458800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:111453600-111459000	Enhancers	NHDF-Ad	bronchial
15	chr3:111453800-111456600	Enhancers	NHLF	lung
16	chr3:111453800-111457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:111453800-111457600	Enhancers	NHEK	skin
18	chr3:111454200-111456800	Enhancers	NH-A	brain
19	chr3:111454200-111458200	Enhancers	Hela-S3	cervix
20	chr3:111454600-111458000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:111454600-111459400	Enhancers	HepG2	liver
22	chr3:111454600-111459600	Enhancers	Liver	Liver
23	chr3:111454800-111460400	Enhancers	Fetal Heart	heart
24	chr3:111454800-111464400	Weak transcription	Placenta	Placenta
25	chr3:111455000-111456600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:111455000-111457600	Weak transcription	HUVEC	blood vessel
27	chr3:111455000-111461000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr3:111455200-111457000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:111455600-111456400	Enhancers	Left Ventricle	heart
30	chr3:111455600-111456400	Enhancers	Ovary	ovary
31	chr3:111455600-111457000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:111455600-111458600	Enhancers	Right Atrium	heart
33	chr3:111455600-111458800	Enhancers	Adipose Nuclei	Adipose
34	chr3:111455800-111456400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:111455800-111456400	Enhancers	Pancreas	Pancrea
36	chr3:111455800-111456400	Enhancers	Right Ventricle	heart
37	chr3:111455800-111457000	Enhancers	Small Intestine	intestine
38	chr3:111455800-111457200	Enhancers	Fetal Stomach	stomach
39	chr3:111455800-111458400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:111455800-111458400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr3:111455800-111458600	Enhancers	Psoas Muscle	Psoas
42	chr3:111455800-111458800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:111455800-111459000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr3:111455800-111459200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:111455800-111461000	Enhancers	Rectal Smooth Muscle	rectum
46	chr3:111456000-111456400	Enhancers	Aorta	Aorta
47	chr3:111456000-111456400	Enhancers	Fetal Intestine Small	intestine
48	chr3:111456000-111456400	Enhancers	Gastric	stomach
49	chr3:111456000-111456400	Enhancers	Lung	lung
50	chr3:111456000-111456400	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links