Variant report

Variant	rs2045790
Chromosome Location	chr3:119821702-119821703
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	chr3:119815352..119817379-chr3:119819963..119822983,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13325281	1.00[AMR][1000 genomes]
rs2035670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28812563	1.00[AMR][1000 genomes]
rs9832865	1.00[AMR][1000 genomes]
rs9838456	1.00[AMR][1000 genomes]
rs9866536	1.00[AMR][1000 genomes]
rs9875981	1.00[AMR][1000 genomes]
rs9876369	1.00[AMR][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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv3964	chr3:119786623-119831698	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119814600-119830600	Weak transcription	Gastric	stomach
2	chr3:119815000-119829200	Weak transcription	Ovary	ovary
3	chr3:119815200-119822000	Weak transcription	Esophagus	oesophagus
4	chr3:119815400-119828000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:119815400-119828200	Weak transcription	Aorta	Aorta
6	chr3:119815400-119828800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:119815400-119830000	Weak transcription	Fetal Lung	lung
8	chr3:119815600-119826000	Weak transcription	Primary B cells from cord blood	blood
9	chr3:119815800-119829000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:119816000-119822200	Weak transcription	Right Ventricle	heart
11	chr3:119816000-119822400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:119816000-119827400	Weak transcription	Thymus	Thymus
13	chr3:119816000-119828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:119816000-119829000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:119816200-119823200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:119816200-119831000	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:119816200-119832600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:119816400-119822200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:119816400-119823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr3:119816400-119826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:119816400-119826600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:119816400-119831400	Weak transcription	Brain Substantia Nigra	brain
23	chr3:119817000-119822200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:119817200-119823400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:119817200-119823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:119817600-119824400	Weak transcription	Placenta	Placenta
27	chr3:119818000-119831800	Weak transcription	HSMM	muscle
28	chr3:119818200-119824400	Weak transcription	Fetal Intestine Large	intestine
29	chr3:119818200-119828600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:119818400-119822200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:119818600-119831800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:119819000-119825000	Weak transcription	HepG2	liver
33	chr3:119819000-119828600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:119819200-119822000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:119819200-119823000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:119819200-119823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:119819400-119822400	Enhancers	HMEC	breast
38	chr3:119819600-119822000	Enhancers	Osteobl	bone
39	chr3:119819600-119822200	Enhancers	Fetal Brain Female	brain
40	chr3:119819600-119822600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:119819800-119822200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:119819800-119822400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:119819800-119827400	Weak transcription	Fetal Thymus	thymus
44	chr3:119819800-119832400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:119820000-119822200	Weak transcription	Primary T cells from cord blood	blood
46	chr3:119820000-119832200	Weak transcription	HSMMtube	muscle
47	chr3:119820200-119828200	Weak transcription	NHDF-Ad	bronchial
48	chr3:119820200-119832000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:119820400-119822400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr3:119820600-119827400	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links