Variant report

Variant	rs13005487
Chromosome Location	chr2:173046436-173046437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11893581	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898023	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991642	1.00[ASN][1000 genomes]
rs13014155	1.00[ASN][1000 genomes]
rs13024942	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031965	1.00[ASN][1000 genomes]
rs17219125	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs33910987	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34238606	1.00[ASN][1000 genomes]
rs34267026	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34517309	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34928801	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35031958	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35123448	1.00[ASN][1000 genomes]
rs35334306	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35434134	1.00[ASN][1000 genomes]
rs35768968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940741	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36027698	1.00[ASN][1000 genomes]
rs56789785	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67130328	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723339	1.00[ASN][1000 genomes]
rs6751665	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9749973	0.80[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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2762294	chr2:173028656-173071270	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173043000-173046800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:173043200-173046600	Weak transcription	Hela-S3	cervix
3	chr2:173045000-173046600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:173045200-173046600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:173045200-173047200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:173045600-173046600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:173045800-173047000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:173045800-173047400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr2:173046000-173046800	Enhancers	Primary T cells from cord blood	blood
10	chr2:173046000-173046800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:173046000-173047200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:173046000-173047200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:173046000-173047600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:173046200-173046600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:173046200-173046800	Enhancers	Fetal Intestine Large	intestine
16	chr2:173046200-173047000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:173046200-173047000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:173046200-173047000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:173046200-173047000	Enhancers	Fetal Thymus	thymus
20	chr2:173046200-173047000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr2:173046200-173047200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:173046200-173047200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:173046200-173047200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:173046200-173047400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:173046400-173046600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:173046400-173046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:173046400-173046600	Bivalent Enhancer	NHEK	skin
28	chr2:173046400-173046800	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:173046400-173046800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:173046400-173046800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:173046400-173046800	Enhancers	Fetal Intestine Small	intestine
32	chr2:173046400-173046800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:173046400-173047000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:173046400-173047000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:173046400-173047000	Enhancers	Thymus	Thymus
36	chr2:173046400-173047000	Enhancers	HMEC	breast
37	chr2:173046400-173047200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:173046400-173047200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:173046400-173047200	Enhancers	NH-A	brain

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