Variant report

Variant	rs57999878
Chromosome Location	chr2:172340097-172340098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172337490..172340413-chr2:172341579..172343907,2	K562	blood:
2	chr2:172332790..172336030-chr2:172339156..172342028,3	K562	blood:
3	chr2:172339539..172341953-chr2:172348003..172351874,3	K562	blood:
4	chr2:172335431..172337466-chr2:172338246..172340277,2	MCF-7	breast:
5	chr2:172338568..172340301-chr2:172379547..172382280,2	K562	blood:

Variant related genes	Relation type
ENSG00000234061	Chromatin interaction
ENSG00000071967	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16859392	0.82[AFR][1000 genomes]
rs16859394	0.82[AFR][1000 genomes]
rs58033547	0.80[AFR][1000 genomes]
rs58560571	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58796565	0.84[AFR][1000 genomes]
rs59745257	0.80[AFR][1000 genomes]
rs60100357	0.80[AFR][1000 genomes]
rs60837517	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs61297254	1.00[AMR][1000 genomes]
rs61731491	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62183501	0.88[AFR][1000 genomes]
rs73022904	0.80[AFR][1000 genomes]
rs73022907	0.80[AFR][1000 genomes]
rs73022921	0.80[AFR][1000 genomes]
rs73022930	0.80[AFR][1000 genomes]
rs73022949	0.82[AFR][1000 genomes]
rs73022974	1.00[AMR][1000 genomes]
rs7563499	0.80[AFR][1000 genomes]
rs7564602	0.89[AFR][1000 genomes];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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:172298600-172341400	Weak transcription	NHLF	lung
3	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
5	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
6	chr2:172324400-172340600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:172324800-172340400	Strong transcription	Primary T cells from cord blood	blood
8	chr2:172324800-172341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:172325000-172340200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:172327000-172346800	Weak transcription	Colonic Mucosa	Colon
11	chr2:172327200-172341200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:172327200-172341600	Weak transcription	Brain Germinal Matrix	brain
13	chr2:172327200-172344000	Weak transcription	Gastric	stomach
14	chr2:172327200-172346600	Weak transcription	Thymus	Thymus
15	chr2:172327200-172348800	Weak transcription	Spleen	Spleen
16	chr2:172327400-172340800	Weak transcription	Lung	lung
17	chr2:172327400-172341200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:172327400-172341200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:172327400-172341400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:172327400-172343400	Weak transcription	A549	lung
21	chr2:172327400-172346800	Weak transcription	Hela-S3	cervix
22	chr2:172327400-172347600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:172327600-172344800	Weak transcription	Brain Anterior Caudate	brain
24	chr2:172327800-172346000	Weak transcription	Fetal Brain Male	brain
25	chr2:172330400-172346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:172331400-172345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:172331800-172343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:172332200-172340800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:172332200-172341000	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:172332200-172341200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:172332200-172342800	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:172332200-172344000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:172332600-172341200	Weak transcription	Fetal Brain Female	brain
34	chr2:172332800-172343600	Weak transcription	Fetal Kidney	kidney
35	chr2:172333400-172345400	Weak transcription	NHDF-Ad	bronchial
36	chr2:172333400-172347800	Weak transcription	Brain Angular Gyrus	brain
37	chr2:172334600-172349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:172334800-172345000	Weak transcription	Fetal Intestine Small	intestine
39	chr2:172334800-172345200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:172334800-172346200	Weak transcription	Psoas Muscle	Psoas
41	chr2:172334800-172346800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:172334800-172347200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:172334800-172349200	Weak transcription	Esophagus	oesophagus
44	chr2:172335000-172345000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:172335200-172346400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:172335400-172349000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:172335600-172344600	Weak transcription	Osteobl	bone
48	chr2:172336200-172341000	Weak transcription	HUVEC	blood vessel
49	chr2:172336600-172340400	Enhancers	HSMMtube	muscle
50	chr2:172336600-172340600	Strong transcription	Dnd41	blood

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