Variant report

Variant	rs55764223
Chromosome Location	chr7:127631896-127631897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2286909	1.00[AFR][1000 genomes]
rs3757772	0.87[EUR][1000 genomes]
rs41281725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55679923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55726025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55754825	1.00[AMR][1000 genomes]
rs55995107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56279409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
2	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
3	chr7:127617600-127640600	Weak transcription	Brain Germinal Matrix	brain
4	chr7:127618200-127633400	Weak transcription	Hela-S3	cervix
5	chr7:127618800-127637800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:127621000-127643600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:127622000-127633400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:127623600-127636800	Weak transcription	Small Intestine	intestine
9	chr7:127624600-127635000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:127626000-127635000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:127626000-127635000	Weak transcription	Psoas Muscle	Psoas
12	chr7:127626600-127635400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:127627200-127644800	Weak transcription	Fetal Brain Female	brain
14	chr7:127627600-127633200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:127627600-127633400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:127627600-127633400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:127627600-127634000	Weak transcription	Right Ventricle	heart
18	chr7:127627600-127634000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:127627600-127635000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:127627600-127637600	Weak transcription	Stomach Mucosa	stomach
21	chr7:127628400-127635200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:127628400-127636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:127628400-127639400	Strong transcription	GM12878-XiMat	blood
24	chr7:127628400-127648400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:127628600-127633400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:127628600-127635000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:127629000-127632400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:127629000-127632600	Strong transcription	K562	blood
29	chr7:127629000-127633800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:127629000-127633800	Weak transcription	Right Atrium	heart
31	chr7:127629400-127634400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:127629400-127635000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:127629400-127635200	Weak transcription	Brain Anterior Caudate	brain
34	chr7:127629600-127633600	Weak transcription	HSMMtube	muscle
35	chr7:127629600-127635000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:127629800-127635000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr7:127629800-127635200	Weak transcription	Brain Angular Gyrus	brain
38	chr7:127630000-127634200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr7:127630200-127633800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:127630200-127635400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:127630200-127638000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr7:127630400-127632000	Enhancers	Fetal Heart	heart
43	chr7:127630400-127633600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:127630400-127634400	Strong transcription	NHEK	skin
45	chr7:127630400-127634600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:127630400-127634600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:127630400-127635600	Strong transcription	HepG2	liver
48	chr7:127630400-127638800	Strong transcription	Primary B cells from cord blood	blood
49	chr7:127630400-127644000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:127630600-127632000	Strong transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links