Variant report

Variant	rs59195571
Chromosome Location	chr2:172344020-172344021
allele	A/G
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	chr2:172343938-172344351	HepG2	liver:	n/a	n/a
2	MAFK	chr2:172343736-172344073	HepG2	liver:	n/a	chr2:172343900-172343915
3	MAFK	chr2:172343819-172344051	HepG2	liver:	n/a	chr2:172343900-172343915

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172337093..172339286-chr2:172342901..172345235,2	K562	blood:
2	chr2:172048062..172050725-chr2:172343966..172345491,2	K562	blood:

Variant related genes	Relation type
DAP3P2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28453686	0.85[AFR][1000 genomes]
rs57136707	0.85[AFR][1000 genomes]
rs57259754	0.82[AFR][1000 genomes]
rs58806459	0.82[AFR][1000 genomes]
rs59827170	0.97[AFR][1000 genomes]
rs6729749	0.85[AFR][1000 genomes]
rs6730160	0.85[AFR][1000 genomes]
rs73976160	0.85[AFR][1000 genomes]
rs73976164	0.87[AFR][1000 genomes]
rs73976165	0.82[AFR][1000 genomes]
rs73976167	0.87[AFR][1000 genomes]
rs73976168	1.00[AFR][1000 genomes]
rs73976170	0.97[AFR][1000 genomes]
rs73976178	0.82[AFR][1000 genomes]
rs73976179	0.82[AFR][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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
3	chr2:172327000-172346800	Weak transcription	Colonic Mucosa	Colon
4	chr2:172327200-172346600	Weak transcription	Thymus	Thymus
5	chr2:172327200-172348800	Weak transcription	Spleen	Spleen
6	chr2:172327400-172346800	Weak transcription	Hela-S3	cervix
7	chr2:172327400-172347600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:172327600-172344800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:172327800-172346000	Weak transcription	Fetal Brain Male	brain
10	chr2:172330400-172346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:172331400-172345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:172333400-172345400	Weak transcription	NHDF-Ad	bronchial
13	chr2:172333400-172347800	Weak transcription	Brain Angular Gyrus	brain
14	chr2:172334600-172349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:172334800-172345000	Weak transcription	Fetal Intestine Small	intestine
16	chr2:172334800-172345200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:172334800-172346200	Weak transcription	Psoas Muscle	Psoas
18	chr2:172334800-172346800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:172334800-172347200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:172334800-172349200	Weak transcription	Esophagus	oesophagus
21	chr2:172335000-172345000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:172335200-172346400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:172335400-172349000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:172335600-172344600	Weak transcription	Osteobl	bone
25	chr2:172337200-172344200	Weak transcription	Liver	Liver
26	chr2:172337600-172344800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:172337800-172344200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:172337800-172348000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:172338000-172345000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:172338000-172345600	Weak transcription	Fetal Thymus	thymus
31	chr2:172338000-172349400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:172338200-172347000	Weak transcription	HMEC	breast
33	chr2:172338400-172349800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:172338600-172345400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:172339000-172344800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:172339600-172345400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:172339600-172347800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:172339600-172348000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:172339800-172348000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:172339800-172350600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:172339800-172352200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:172340000-172344400	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:172340000-172344400	Weak transcription	NHEK	skin
44	chr2:172340000-172344800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:172340000-172344800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:172340000-172344800	Weak transcription	HepG2	liver
47	chr2:172340000-172345000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:172340000-172345000	Weak transcription	GM12878-XiMat	blood
49	chr2:172340000-172345200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:172340000-172345200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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