Variant report

Variant	rs62474609
Chromosome Location	chr7:112126553-112126554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112088410..112092033-chr7:112123451..112127009,4	MCF-7	breast:
2	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
3	chr7:112107706..112111230-chr7:112125046..112128552,3	MCF-7	breast:
4	chr7:112088993..112091963-chr7:112126130..112127853,2	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10246851	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62474608	0.82[EUR][1000 genomes]
rs62474610	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62474611	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73430731	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73430734	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 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	chr7:112100600-112135000	Weak transcription	Esophagus	oesophagus
2	chr7:112111200-112127200	Weak transcription	Fetal Brain Male	brain
3	chr7:112112600-112129000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:112113400-112127600	Weak transcription	Spleen	Spleen
5	chr7:112114400-112132000	Weak transcription	HepG2	liver
6	chr7:112116800-112132200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:112117200-112127200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:112117200-112128800	Weak transcription	Dnd41	blood
9	chr7:112117400-112130800	Weak transcription	Thymus	Thymus
10	chr7:112117600-112131600	Weak transcription	Fetal Intestine Large	intestine
11	chr7:112118800-112141600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:112121000-112136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:112121200-112132000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:112121600-112129600	Weak transcription	Liver	Liver
15	chr7:112122400-112131400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:112122600-112127000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:112122600-112132400	Weak transcription	Gastric	stomach
18	chr7:112123200-112135400	Weak transcription	Fetal Lung	lung
19	chr7:112123600-112130600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:112124000-112129600	Weak transcription	Aorta	Aorta
21	chr7:112124200-112127600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:112124200-112127800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:112125000-112131400	Weak transcription	Primary T cells from cord blood	blood
24	chr7:112125200-112127600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:112125200-112127600	Enhancers	Brain Substantia Nigra	brain
26	chr7:112125200-112134600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:112125200-112138200	Weak transcription	Pancreas	Pancrea
28	chr7:112125400-112126600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:112125400-112127000	Weak transcription	K562	blood
30	chr7:112125400-112127600	Weak transcription	Left Ventricle	heart
31	chr7:112125400-112127600	Enhancers	Hela-S3	cervix
32	chr7:112125400-112129800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:112125400-112131400	Weak transcription	Lung	lung
34	chr7:112125400-112132000	Weak transcription	Placenta	Placenta
35	chr7:112125400-112134800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:112125400-112135800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:112125400-112142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:112125400-112143200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:112125600-112126800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:112125600-112129600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:112125600-112129800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:112125600-112131600	Weak transcription	A549	lung
43	chr7:112125600-112133000	Weak transcription	Osteobl	bone
44	chr7:112125600-112134000	Weak transcription	NH-A	brain
45	chr7:112125600-112134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:112125600-112135000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:112125800-112128000	Enhancers	Psoas Muscle	Psoas
48	chr7:112125800-112135800	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:112126000-112126600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr7:112126000-112127000	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links