Variant report

Variant	rs57136707
Chromosome Location	chr2:172315909-172315910
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172308091..172309888-chr2:172313699..172316132,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16823212	1.00[EUR][1000 genomes]
rs2674496	1.00[EUR][1000 genomes]
rs28453686	0.95[AFR][1000 genomes]
rs3731979	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3795997	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56392714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57580465	1.00[EUR][1000 genomes]
rs59019079	0.90[AFR][1000 genomes]
rs59195571	0.85[AFR][1000 genomes]
rs59827170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60018506	1.00[EUR][1000 genomes]
rs60601337	0.80[AFR][1000 genomes]
rs62183544	0.87[ASN][1000 genomes]
rs6729749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976164	0.97[AFR][1000 genomes]
rs73976165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976168	0.85[AFR][1000 genomes]
rs73976170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7560091	1.00[EUR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:172293000-172318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:172293200-172319400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:172293200-172319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
10	chr2:172298400-172325400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:172298400-172325600	Weak transcription	Hela-S3	cervix
12	chr2:172298400-172326200	Weak transcription	NHEK	skin
13	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
14	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:172298600-172341400	Weak transcription	NHLF	lung
16	chr2:172299400-172325400	Weak transcription	Gastric	stomach
17	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:172303600-172316200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:172303600-172317000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:172303800-172317400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:172304200-172316600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:172304200-172316800	Strong transcription	Liver	Liver
23	chr2:172304800-172325200	Weak transcription	Brain Angular Gyrus	brain
24	chr2:172304800-172325200	Weak transcription	Pancreas	Pancrea
25	chr2:172304800-172330000	Weak transcription	NH-A	brain
26	chr2:172304800-172338800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:172305000-172326400	Weak transcription	Lung	lung
28	chr2:172305800-172325200	Weak transcription	Aorta	Aorta
29	chr2:172305800-172325400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:172306800-172325200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:172306800-172325800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:172306800-172334000	Weak transcription	Psoas Muscle	Psoas
34	chr2:172307400-172325400	Weak transcription	Thymus	Thymus
35	chr2:172307600-172325800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:172307600-172325800	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:172307800-172325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
39	chr2:172308200-172325800	Weak transcription	Brain Anterior Caudate	brain
40	chr2:172309400-172325800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:172309600-172325400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
43	chr2:172309800-172325200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:172309800-172325400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:172310400-172316000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:172311200-172319200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:172311400-172322000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:172311800-172316800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:172311800-172317000	Strong transcription	HSMM	muscle
50	chr2:172311800-172317400	Strong transcription	Dnd41	blood

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