Variant report

Variant	rs2242677
Chromosome Location	chr21:17146328-17146329
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10482876	0.82[CHB][hapmap]
rs1543299	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17241409	0.95[ASN][1000 genomes]
rs17241430	1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs17241444	0.82[CHB][hapmap]
rs17275511	0.87[ASN][1000 genomes]
rs17307170	0.98[ASN][1000 genomes]
rs17307176	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17307190	0.84[ASN][1000 genomes]
rs2026853	0.85[JPT][hapmap]
rs2242676	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2245574	0.85[JPT][hapmap]
rs2823455	0.84[ASN][1000 genomes]
rs2823466	0.81[YRI][hapmap]
rs2823478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2823481	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823482	1.00[CEU][hapmap]
rs2823483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823484	0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823493	0.85[JPT][hapmap]
rs2823499	0.85[JPT][hapmap]
rs3787577	0.82[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs55806628	0.89[ASN][1000 genomes]
rs56299770	0.91[ASN][1000 genomes]
rs56410772	0.93[ASN][1000 genomes]
rs57737796	0.84[ASN][1000 genomes]
rs59420372	0.91[ASN][1000 genomes]
rs60191002	0.91[ASN][1000 genomes]
rs60360638	0.91[ASN][1000 genomes]
rs6517675	0.84[ASN][1000 genomes]
rs7281511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7283764	0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs73181987	0.89[ASN][1000 genomes]
rs73346766	0.84[ASN][1000 genomes]
rs73346769	0.84[ASN][1000 genomes]
rs9976815	0.93[ASN][1000 genomes]
rs9983542	1.00[JPT][hapmap];0.91[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	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17125800-17153400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:17126800-17147600	Weak transcription	Placenta	Placenta
3	chr21:17127000-17147400	Weak transcription	HSMMtube	muscle
4	chr21:17127000-17152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr21:17127200-17153400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:17127400-17147800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:17127400-17153400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr21:17127800-17152800	Weak transcription	Fetal Intestine Large	intestine
9	chr21:17130800-17156800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr21:17132800-17153400	Weak transcription	Spleen	Spleen
11	chr21:17133800-17149400	Weak transcription	Small Intestine	intestine
12	chr21:17134000-17147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr21:17134000-17152400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:17134000-17153400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:17134200-17153000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr21:17134200-17153400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr21:17134200-17154000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr21:17134400-17153200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:17135000-17152600	Weak transcription	Primary T cells from cord blood	blood
20	chr21:17135000-17153000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr21:17135000-17153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr21:17135000-17153600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr21:17135200-17153000	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:17135400-17153200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr21:17135600-17153200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr21:17135800-17147200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:17136600-17148400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr21:17136600-17153200	Weak transcription	Thymus	Thymus
29	chr21:17138600-17152800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:17139600-17150800	Weak transcription	Fetal Kidney	kidney
31	chr21:17139800-17149000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr21:17139800-17153000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr21:17139800-17153400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr21:17139800-17153400	Weak transcription	Aorta	Aorta
35	chr21:17140000-17149000	Weak transcription	Liver	Liver
36	chr21:17140000-17152800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:17140200-17150800	Weak transcription	Fetal Lung	lung
38	chr21:17140200-17153400	Weak transcription	Brain Anterior Caudate	brain
39	chr21:17140400-17152600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr21:17140600-17148200	Weak transcription	HepG2	liver
41	chr21:17140800-17148800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr21:17140800-17153000	Weak transcription	K562	blood
43	chr21:17140800-17153400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr21:17140800-17154200	Weak transcription	Stomach Mucosa	stomach
45	chr21:17141000-17146800	Weak transcription	Adipose Nuclei	Adipose
46	chr21:17141000-17147000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr21:17141000-17152800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr21:17142000-17146400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:17142000-17146800	Weak transcription	HMEC	breast
50	chr21:17142200-17146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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