Variant report

Variant	rs10012451
Chromosome Location	chr4:7927532-7927533
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	chr4:7926036..7929500-chr4:7940242..7942845,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	Chromatin interaction
ENSG00000228919	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2386054	0.89[ASN][1000 genomes]
rs9991239	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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:71 , 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	chr4:7913600-7930400	Weak transcription	NHEK	skin
9	chr4:7914200-7930800	Weak transcription	Fetal Kidney	kidney
10	chr4:7915000-7928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:7915000-7930400	Weak transcription	Fetal Lung	lung
12	chr4:7918800-7930400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:7919000-7929000	Weak transcription	Brain Germinal Matrix	brain
14	chr4:7919200-7930600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:7919600-7930800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:7919800-7930400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:7919800-7931200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:7920600-7931200	Weak transcription	Lung	lung
19	chr4:7921000-7930600	Weak transcription	Esophagus	oesophagus
20	chr4:7921200-7930600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:7923000-7931600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:7924600-7928800	Weak transcription	Ovary	ovary
23	chr4:7925600-7929000	Genic enhancers	Osteobl	bone
24	chr4:7925800-7928000	Weak transcription	Stomach Mucosa	stomach
25	chr4:7926000-7928800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:7926000-7931200	Weak transcription	NHDF-Ad	bronchial
27	chr4:7926200-7927800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:7926200-7929200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:7926200-7930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:7926200-7930600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:7926400-7928200	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:7926400-7930800	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:7926400-7931200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:7926600-7928000	Weak transcription	HMEC	breast
35	chr4:7926600-7928200	Genic enhancers	NH-A	brain
36	chr4:7926600-7930400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:7926600-7930600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:7926600-7930600	Weak transcription	Fetal Brain Female	brain
39	chr4:7926600-7930600	Weak transcription	Pancreas	Pancrea
40	chr4:7926600-7930800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:7926600-7936600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:7926800-7927600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:7926800-7928200	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:7926800-7928400	Genic enhancers	HSMMtube	muscle
45	chr4:7926800-7929800	Strong transcription	Fetal Stomach	stomach
46	chr4:7926800-7930400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:7926800-7931200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:7926800-7931200	Weak transcription	Right Atrium	heart
49	chr4:7926800-7931200	Weak transcription	NHLF	lung
50	chr4:7926800-7935400	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links