Variant report

Variant	rs73976150
Chromosome Location	chr2:172221406-172221407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10171164	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10177689	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10186304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192493	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195990	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202883	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10210332	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13386613	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13388963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395084	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396824	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13402901	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13414723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420838	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28608023	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28663293	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4566333	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57629676	0.88[AFR][1000 genomes]
rs58367130	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58808521	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59235233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59318451	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59449823	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59599047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60523677	0.81[EUR][1000 genomes]
rs62181354	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73976149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976153	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976158	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73976177	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7580497	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973419	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973709	1.00[EUR][1000 genomes];1.00[ASN][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:37 , 50 per page) page: 1

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	chr2:172204800-172222400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:172205000-172221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:172205000-172221800	Weak transcription	Osteobl	bone
6	chr2:172205000-172222400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:172205200-172221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:172205200-172224000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:172212400-172221600	Weak transcription	HMEC	breast
11	chr2:172212400-172222400	Weak transcription	Aorta	Aorta
12	chr2:172212400-172231400	Weak transcription	Esophagus	oesophagus
13	chr2:172214200-172226000	Weak transcription	Left Ventricle	heart
14	chr2:172214400-172222400	Weak transcription	A549	lung
15	chr2:172214800-172221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:172214800-172231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:172215000-172222400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:172215000-172223000	Weak transcription	Fetal Stomach	stomach
19	chr2:172215400-172231800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:172215800-172231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:172216000-172222400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:172216400-172222800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:172216400-172231400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:172216800-172221600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:172216800-172222000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:172217000-172221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:172217000-172224800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:172217200-172225000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:172217200-172231400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:172218800-172222400	Weak transcription	Primary B cells from cord blood	blood
31	chr2:172219000-172221800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:172219000-172222200	Weak transcription	HepG2	liver
33	chr2:172219000-172222400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:172221400-172221800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr2:172221400-172221800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:172221400-172222000	Enhancers	HUVEC	blood vessel
37	chr2:172221400-172222200	Enhancers	NHEK	skin

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