Variant report

Variant	rs8179994
Chromosome Location	chr3:141618733-141618734
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:141618648-141619622	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141612451..141614593-chr3:141618463..141620406,2	K562	blood:

Variant related genes	Relation type
ATP1B3	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1073464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12386355	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13059220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13061474	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13067998	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069329	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082115	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13086153	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1897139	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35681935	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260404	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5013124	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8179925	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810380	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822066	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827902	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9836116	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9850595	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9855878	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858477	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9873028	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9878540	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141596400-141626400	Weak transcription	Pancreas	Pancrea
2	chr3:141597000-141625200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:141597000-141646400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:141597200-141625800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:141597400-141618800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:141597400-141618800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:141597800-141619000	Weak transcription	Lung	lung
8	chr3:141597800-141627000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:141598000-141618800	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:141598000-141619200	Weak transcription	Psoas Muscle	Psoas
11	chr3:141598000-141625400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:141598000-141626000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:141598000-141627000	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:141598000-141627200	Weak transcription	Colonic Mucosa	Colon
15	chr3:141598000-141642000	Weak transcription	Right Ventricle	heart
16	chr3:141598200-141626000	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:141598200-141627200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:141598200-141640200	Weak transcription	Fetal Brain Male	brain
19	chr3:141598200-141640200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:141598400-141622200	Weak transcription	Left Ventricle	heart
21	chr3:141598400-141623800	Weak transcription	NH-A	brain
22	chr3:141600400-141618800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:141600400-141619000	Weak transcription	Fetal Brain Female	brain
24	chr3:141600600-141619400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:141600800-141619000	Weak transcription	Adipose Nuclei	Adipose
26	chr3:141600800-141619000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:141602400-141619000	Weak transcription	Fetal Stomach	stomach
28	chr3:141605200-141627200	Weak transcription	Primary T cells from cord blood	blood
29	chr3:141605600-141618800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:141606200-141623600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:141606800-141625200	Weak transcription	HSMMtube	muscle
32	chr3:141607200-141623800	Weak transcription	HUVEC	blood vessel
33	chr3:141608000-141618800	Weak transcription	Esophagus	oesophagus
34	chr3:141609000-141618800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:141612600-141619000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:141614000-141618800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:141614000-141626000	Weak transcription	Fetal Lung	lung
38	chr3:141614200-141624000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:141614400-141619000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:141614800-141625200	Weak transcription	NHDF-Ad	bronchial
41	chr3:141615000-141619600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr3:141615000-141622200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:141615400-141618800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr3:141615600-141618800	Strong transcription	Fetal Thymus	thymus
45	chr3:141615600-141618800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr3:141615600-141619600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr3:141615800-141618800	Strong transcription	NHEK	skin
48	chr3:141615800-141619200	ZNF genes & repeats	Dnd41	blood
49	chr3:141615800-141619600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:141615800-141619600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links