Variant report

Variant	rs9983551
Chromosome Location	chr21:45476603-45476604
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45438119..45440694-chr21:45475384..45477960,3	K562	blood:
2	chr21:45474928..45477593-chr21:45490413..45492194,2	K562	blood:
3	chr21:45388765..45391178-chr21:45475635..45477292,2	K562	blood:
4	chr21:45454972..45457368-chr21:45476022..45478398,2	MCF-7	breast:
5	chr21:45473377..45479336-chr21:45481371..45487468,11	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2020943	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2071144	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2071145	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2227265	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838465	0.93[ASN][1000 genomes]
rs2838470	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838479	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838484	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838487	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838495	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2838497	0.84[EUR][1000 genomes]
rs28834388	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57812760	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57855582	0.86[ASN][1000 genomes]
rs60503863	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61689295	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62226718	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62226719	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62226722	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62226723	0.92[EUR][1000 genomes]
rs62226724	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7275501	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7282644	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73909115	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8128926	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9284512	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9306175	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9974767	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9975436	1.00[EUR][1000 genomes]
rs9977122	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9977460	0.91[ASN][1000 genomes]
rs9978109	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9978772	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9979931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9980021	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9982695	1.00[EUR][1000 genomes]
rs9982907	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9983596	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9984876	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
5	chr21:45458000-45482800	Weak transcription	HMEC	breast
6	chr21:45458200-45479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:45458200-45483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:45459400-45478000	Weak transcription	Aorta	Aorta
9	chr21:45459400-45483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:45460000-45477800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:45463400-45480600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr21:45463400-45485200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr21:45463600-45485000	Strong transcription	Thymus	Thymus
14	chr21:45464200-45480000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr21:45465200-45485200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:45465800-45480000	Strong transcription	Dnd41	blood
17	chr21:45465800-45485000	Strong transcription	Fetal Thymus	thymus
18	chr21:45465800-45487800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:45466000-45480800	Strong transcription	Primary T cells from cord blood	blood
20	chr21:45466000-45484400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr21:45466200-45480600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:45469000-45480000	Strong transcription	Primary hematopoietic stem cells	blood
25	chr21:45469000-45480400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr21:45469400-45487000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr21:45470400-45478000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:45470400-45480600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:45470800-45480000	Strong transcription	GM12878-XiMat	blood
31	chr21:45471200-45477800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr21:45471200-45477800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr21:45471400-45480000	Strong transcription	Esophagus	oesophagus
34	chr21:45471400-45480400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr21:45471400-45487000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:45471600-45477800	Strong transcription	K562	blood
37	chr21:45471600-45480000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr21:45471800-45477800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr21:45471800-45480600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr21:45471800-45495400	Strong transcription	Fetal Muscle Leg	muscle
41	chr21:45471800-45502200	Strong transcription	Fetal Intestine Small	intestine
42	chr21:45472000-45477000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr21:45472000-45477600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr21:45472000-45477800	Weak transcription	Fetal Lung	lung
45	chr21:45472000-45480400	Strong transcription	Adipose Nuclei	Adipose
46	chr21:45472000-45480400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr21:45472000-45494200	Weak transcription	Psoas Muscle	Psoas
48	chr21:45472000-45502600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr21:45472200-45479000	Weak transcription	Small Intestine	intestine
50	chr21:45472200-45480000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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