Variant report

Variant	rs73021081
Chromosome Location	chr2:172216058-172216059
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	chr2:172211606..172213974-chr2:172215315..172217354,2	K562	blood:

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

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

rs_ID	r²[population]
rs57396064	0.91[AMR][1000 genomes]
rs58728495	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59745257	0.91[AMR][1000 genomes]
rs60087352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60100357	0.91[AMR][1000 genomes]
rs60925959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022904	0.91[AMR][1000 genomes]
rs73022907	0.91[AMR][1000 genomes]
rs73022909	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73022911	0.94[AFR][1000 genomes];0.91[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	nsv1003130	chr2:172189196-172237268	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 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	chr2:172172800-172222400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:172181000-172221600	Weak transcription	K562	blood
3	chr2:172193600-172218200	Weak transcription	HepG2	liver
4	chr2:172203400-172217200	Weak transcription	Small Intestine	intestine
5	chr2:172203800-172218600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:172204600-172218600	Weak transcription	Ovary	ovary
7	chr2:172204800-172222400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:172205000-172216600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:172205000-172217200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:172205000-172221400	Weak transcription	NHEK	skin
11	chr2:172205000-172221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:172205000-172221800	Weak transcription	Osteobl	bone
13	chr2:172205000-172222400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:172205200-172218400	Weak transcription	Psoas Muscle	Psoas
15	chr2:172205200-172218400	Weak transcription	NHDF-Ad	bronchial
16	chr2:172205200-172221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:172205200-172224000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:172211800-172217000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:172212400-172221600	Weak transcription	HMEC	breast
21	chr2:172212400-172222400	Weak transcription	Aorta	Aorta
22	chr2:172212400-172231400	Weak transcription	Esophagus	oesophagus
23	chr2:172214200-172226000	Weak transcription	Left Ventricle	heart
24	chr2:172214400-172217200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:172214400-172222400	Weak transcription	A549	lung
26	chr2:172214600-172216600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:172214600-172216800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:172214600-172218200	Weak transcription	Primary B cells from cord blood	blood
29	chr2:172214800-172216200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:172214800-172217200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:172214800-172217800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:172214800-172218800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:172214800-172221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:172214800-172231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:172215000-172216600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:172215000-172218400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:172215000-172218600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:172215000-172222400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:172215000-172223000	Weak transcription	Fetal Stomach	stomach
40	chr2:172215200-172216400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr2:172215400-172231800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:172215600-172216600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:172215600-172216600	Weak transcription	GM12878-XiMat	blood
44	chr2:172215800-172216200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:172215800-172216400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:172215800-172217000	Strong transcription	Dnd41	blood
47	chr2:172215800-172218200	Weak transcription	Hela-S3	cervix
48	chr2:172215800-172218400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:172215800-172218400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:172215800-172231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links