Variant report

Variant	rs1814092
Chromosome Location	chr4:74736235-74736236
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	chr4:74736057..74738818-chr4:74920006..74922107,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248848	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1511814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1835263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs187093	0.85[AMR][1000 genomes]
rs2018732	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2668075	0.85[AMR][1000 genomes]
rs2668077	0.85[AMR][1000 genomes]
rs3097408	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3097410	0.91[AFR][1000 genomes]
rs352030	0.85[AMR][1000 genomes]
rs353030	0.85[AMR][1000 genomes]
rs353035	0.85[AMR][1000 genomes]
rs353037	0.85[AMR][1000 genomes]
rs375890	0.85[AMR][1000 genomes]
rs471520	0.85[AMR][1000 genomes]
rs480175	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs506627	0.85[AMR][1000 genomes]
rs509958	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs548869	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554409	0.85[AMR][1000 genomes]
rs565886	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs587895	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs591026	0.89[AFR][1000 genomes]
rs592797	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs649575	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72855209	0.85[AMR][1000 genomes]
rs930113	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74733600-74738800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:74733800-74736400	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:74734000-74736400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:74734200-74737000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:74734400-74736400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:74734400-74736800	Active TSS	Pancreas	Pancrea
7	chr4:74734800-74736600	Active TSS	NHDF-Ad	bronchial
8	chr4:74734800-74736800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:74735000-74736800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:74735000-74737000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr4:74735000-74737400	Active TSS	Primary hematopoietic stem cells	blood
12	chr4:74735200-74736600	Flanking Active TSS	HMEC	breast
13	chr4:74735400-74736400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:74735400-74736400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:74735400-74736400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr4:74735400-74736400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr4:74735400-74737000	Flanking Active TSS	HUVEC	blood vessel
18	chr4:74735400-74738000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr4:74735600-74736400	Active TSS	Colonic Mucosa	Colon
20	chr4:74735600-74736400	Flanking Active TSS	NHEK	skin
21	chr4:74735800-74736400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr4:74736000-74738000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
23	chr4:74736000-74741600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:74736200-74736400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:74736200-74736400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:74736200-74736400	Enhancers	Adipose Nuclei	Adipose
27	chr4:74736200-74736400	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr4:74736200-74736400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr4:74736200-74736600	Active TSS	Duodenum Mucosa	Duodenum
30	chr4:74736200-74736800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:74736200-74736800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:74736200-74736800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:74736200-74737800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links