Variant report

Variant	rs62483978
Chromosome Location	chr7:127696304-127696305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127694685..127697419-chr7:127701664..127704398,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12706824	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13223326	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13232846	0.85[EUR][1000 genomes]
rs13238717	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13240628	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17733783	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34209480	0.84[AMR][1000 genomes]
rs34393727	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35013916	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35081291	0.84[AFR][1000 genomes]
rs35584770	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35602492	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3757762	0.84[AMR][1000 genomes]
rs3779525	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3808062	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481453	0.84[AMR][1000 genomes]
rs6948752	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127670400-127698800	Weak transcription	Dnd41	blood
4	chr7:127673000-127697800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
6	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:127678000-127701200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:127680000-127697600	Weak transcription	Thymus	Thymus
10	chr7:127680400-127698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:127681600-127714600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:127683000-127708800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:127683200-127700600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:127684400-127701400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:127684600-127697000	Weak transcription	Fetal Thymus	thymus
18	chr7:127685000-127710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:127686000-127696400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:127689000-127696400	Weak transcription	Liver	Liver
21	chr7:127689400-127717000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:127690000-127697600	Weak transcription	GM12878-XiMat	blood
23	chr7:127691400-127699200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:127692800-127698800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:127692800-127699600	Weak transcription	Left Ventricle	heart
26	chr7:127692800-127703200	Weak transcription	Pancreas	Pancrea
27	chr7:127692800-127714400	Weak transcription	Right Ventricle	heart
28	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
29	chr7:127693000-127698600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:127693200-127697800	Weak transcription	Fetal Heart	heart
31	chr7:127693200-127718400	Weak transcription	HMEC	breast
32	chr7:127693400-127696600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:127693400-127697800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:127693400-127697800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:127693400-127698200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:127693400-127701800	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:127693400-127703600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:127693400-127706400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:127693400-127708800	Strong transcription	Fetal Intestine Small	intestine
40	chr7:127693400-127711600	Weak transcription	Adipose Nuclei	Adipose
41	chr7:127693400-127714200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:127693400-127716600	Weak transcription	Colonic Mucosa	Colon
43	chr7:127693400-127717200	Weak transcription	Small Intestine	intestine
44	chr7:127693600-127696400	Weak transcription	HUVEC	blood vessel
45	chr7:127693600-127697200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:127693600-127697200	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:127693600-127697600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr7:127693600-127697600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr7:127693600-127697800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:127693600-127710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links