Variant report

Variant	rs2176861
Chromosome Location	chr3:46591123-46591124
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	chr3:46582368..46586773-chr3:46586902..46591684,9	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12486039	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34924380	0.93[ASN][1000 genomes]
rs35303057	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4682820	0.93[ASN][1000 genomes]
rs62247799	0.93[ASN][1000 genomes]
rs6772937	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6800163	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6808142	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9311391	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810340	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv876737	chr3:46569721-46595431	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
2	chr3:46578400-46599200	Weak transcription	HSMMtube	muscle
3	chr3:46581200-46599200	Weak transcription	Fetal Heart	heart
4	chr3:46581400-46594400	Enhancers	Fetal Thymus	thymus
5	chr3:46581600-46599400	Weak transcription	Spleen	Spleen
6	chr3:46584400-46598000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:46584600-46591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:46584800-46592600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:46584800-46594000	Weak transcription	NHDF-Ad	bronchial
10	chr3:46584800-46594400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:46586800-46594800	Weak transcription	Liver	Liver
12	chr3:46587200-46598800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:46587800-46597400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:46587800-46599600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:46588400-46599600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:46588600-46591200	Weak transcription	GM12878-XiMat	blood
17	chr3:46588600-46592600	Weak transcription	Esophagus	oesophagus
18	chr3:46589400-46591200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:46589800-46591400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr3:46589800-46591800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr3:46590000-46591400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr3:46590000-46591800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr3:46590000-46591800	Flanking Active TSS	Dnd41	blood
24	chr3:46590000-46593000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:46590000-46593600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:46590200-46591400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr3:46590200-46591800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:46590400-46591800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:46590400-46591800	Flanking Active TSS	K562	blood
30	chr3:46590400-46592600	Enhancers	Thymus	Thymus
31	chr3:46590600-46591800	Enhancers	Primary hematopoietic stem cells	blood
32	chr3:46590600-46592600	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:46590800-46591200	Enhancers	Right Ventricle	heart
34	chr3:46590800-46591400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:46590800-46591400	Enhancers	Osteobl	bone
36	chr3:46590800-46591800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr3:46590800-46593200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:46591000-46591200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr3:46591000-46591200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:46591000-46591200	Enhancers	Psoas Muscle	Psoas
41	chr3:46591000-46591400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:46591000-46591400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:46591000-46591400	Enhancers	Gastric	stomach
44	chr3:46591000-46591400	Genic enhancers	Left Ventricle	heart
45	chr3:46591000-46591600	Enhancers	Primary T cells from cord blood	blood
46	chr3:46591000-46591600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr3:46591000-46591600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:46591000-46591600	Strong transcription	Ovary	ovary
49	chr3:46591000-46591600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr3:46591000-46591800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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