Variant report

Variant	rs73946220
Chromosome Location	chr2:86752675-86752676
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86751501..86754085-chr2:86847013..86850367,3	MCF-7	breast:
2	chr2:86739689..86741433-chr2:86750105..86753068,2	MCF-7	breast:
3	chr2:86752276..86754731-chr2:86755226..86757056,2	MCF-7	breast:
4	chr2:86752024..86755712-chr2:86758517..86761265,3	K562	blood:

Variant related genes	Relation type
ENSG00000249884	Chromatin interaction
ENSG00000239305	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17027287	1.00[AMR][1000 genomes]
rs56249372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58376522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58487331	1.00[AMR][1000 genomes]
rs72928459	1.00[AMR][1000 genomes]
rs73945296	1.00[AMR][1000 genomes]
rs73946207	0.90[AFR][1000 genomes]
rs73949507	1.00[AMR][1000 genomes]
rs73949509	1.00[AMR][1000 genomes]
rs73949510	1.00[AMR][1000 genomes]
rs73949511	1.00[AMR][1000 genomes]
rs73949513	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7557127	1.00[AMR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86679800-86757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:86726400-86753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:86728200-86755800	Weak transcription	Fetal Brain Male	brain
4	chr2:86733000-86759400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:86733400-86758600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:86734000-86784800	Weak transcription	Osteobl	bone
7	chr2:86736400-86770600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:86736800-86754400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:86737000-86753000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:86737000-86754400	Weak transcription	NHDF-Ad	bronchial
11	chr2:86737000-86761200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:86737000-86772800	Weak transcription	Pancreas	Pancrea
13	chr2:86737400-86753000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:86737400-86755400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:86737400-86756800	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:86737400-86757400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:86737400-86788400	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:86737600-86768400	Weak transcription	Ovary	ovary
19	chr2:86737800-86753000	Weak transcription	Placenta	Placenta
20	chr2:86737800-86753200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:86737800-86754400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:86737800-86755400	Weak transcription	Small Intestine	intestine
23	chr2:86737800-86756400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:86737800-86779600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:86738200-86756200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:86738200-86772400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:86738200-86772600	Weak transcription	Right Ventricle	heart
28	chr2:86738400-86759000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:86740200-86753200	Weak transcription	HMEC	breast
30	chr2:86741400-86754200	Weak transcription	Left Ventricle	heart
31	chr2:86741400-86768400	Weak transcription	Psoas Muscle	Psoas
32	chr2:86742400-86755600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:86744000-86755600	Weak transcription	Fetal Brain Female	brain
34	chr2:86746000-86753800	Weak transcription	Fetal Stomach	stomach
35	chr2:86746000-86754400	Weak transcription	HSMMtube	muscle
36	chr2:86746000-86768000	Weak transcription	Fetal Heart	heart
37	chr2:86747200-86753000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:86747600-86754800	Weak transcription	Esophagus	oesophagus
39	chr2:86747800-86753600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:86747800-86755000	Weak transcription	Brain Anterior Caudate	brain
41	chr2:86748000-86753000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:86748000-86753000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:86748000-86753000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:86748000-86753000	Weak transcription	Adipose Nuclei	Adipose
45	chr2:86748000-86753200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:86748000-86753200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:86748000-86753200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:86748000-86753800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:86748000-86753800	Weak transcription	Fetal Intestine Small	intestine
50	chr2:86748000-86754000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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