Variant report

Variant	rs2386054
Chromosome Location	chr4:7925890-7925891
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	chr4:7924008..7927501-chr4:7928282..7930975,3	MCF-7	breast:
2	chr4:7921981..7926079-chr4:7940006..7943093,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	Chromatin interaction
ENSG00000228919	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10012451	0.89[ASN][1000 genomes]
rs11736967	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs28425587	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28434072	0.80[EUR][1000 genomes]
rs4274847	0.86[CHB][hapmap]
rs4401450	1.00[CEU][hapmap]
rs4478172	0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs4689877	0.86[CHB][hapmap]
rs4696688	0.81[ASN][1000 genomes]
rs7676488	0.80[EUR][1000 genomes]
rs7691757	0.80[EUR][1000 genomes]
rs9654093	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs9991239	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7899800-7930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:7907800-7935800	Weak transcription	Right Ventricle	heart
3	chr4:7912000-7931200	Weak transcription	Aorta	Aorta
4	chr4:7912800-7931200	Weak transcription	Gastric	stomach
5	chr4:7913000-7927600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:7913000-7930600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:7913000-7931000	Weak transcription	Fetal Intestine Large	intestine
8	chr4:7913200-7926400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:7913600-7926200	Weak transcription	Fetal Brain Female	brain
10	chr4:7913600-7927200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:7913600-7930400	Weak transcription	NHEK	skin
12	chr4:7914000-7926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:7914200-7930800	Weak transcription	Fetal Kidney	kidney
14	chr4:7915000-7926000	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:7915000-7928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:7915000-7930400	Weak transcription	Fetal Lung	lung
17	chr4:7918800-7930400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:7919000-7929000	Weak transcription	Brain Germinal Matrix	brain
19	chr4:7919200-7930600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:7919400-7926200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:7919600-7930800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:7919800-7926200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:7919800-7930400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:7919800-7931200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:7920000-7926000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:7920000-7926400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:7920200-7926400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:7920400-7926400	Weak transcription	Fetal Intestine Small	intestine
29	chr4:7920400-7926400	Weak transcription	Right Atrium	heart
30	chr4:7920600-7931200	Weak transcription	Lung	lung
31	chr4:7921000-7926400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr4:7921000-7930600	Weak transcription	Esophagus	oesophagus
33	chr4:7921200-7926000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:7921200-7926000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:7921200-7930600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:7921800-7926000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:7923000-7931600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:7923600-7926000	Weak transcription	HMEC	breast
39	chr4:7924200-7926400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr4:7924600-7926000	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:7924600-7926000	Weak transcription	Fetal Brain Male	brain
42	chr4:7924600-7928800	Weak transcription	Ovary	ovary
43	chr4:7925000-7927200	Enhancers	HUVEC	blood vessel
44	chr4:7925200-7927000	Enhancers	A549	lung
45	chr4:7925200-7927400	Enhancers	HepG2	liver
46	chr4:7925400-7926000	Enhancers	Stomach Smooth Muscle	stomach
47	chr4:7925400-7926600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:7925400-7927000	Enhancers	Hela-S3	cervix
49	chr4:7925600-7926000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:7925600-7926200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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