Variant report

Variant	rs9979931
Chromosome Location	chr21:45468056-45468057
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45461046..45464052-chr21:45468043..45471887,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1005045	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11910604	1.00[JPT][hapmap]
rs2020943	1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2071144	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2071145	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2227265	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838465	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2838470	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838479	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838484	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838487	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838495	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2838497	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2838510	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs28834388	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57812760	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57855582	0.83[ASN][1000 genomes]
rs60503863	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61689295	0.92[EUR][1000 genomes]
rs62226718	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62226719	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62226722	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62226723	0.92[EUR][1000 genomes]
rs62226724	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7275501	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7282644	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73909115	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128926	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs878132	1.00[JPT][hapmap]
rs9284512	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9306175	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9974767	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9975436	1.00[EUR][1000 genomes]
rs9977122	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9977460	0.95[ASN][1000 genomes]
rs9978109	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9978772	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9980021	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9980063	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs9982695	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs9982907	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983551	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9983596	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9984876	0.96[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	chr21:45445200-45471400	Weak transcription	Stomach Mucosa	stomach
2	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:45445800-45471400	Weak transcription	Right Atrium	heart
4	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
5	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
7	chr21:45455000-45475600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr21:45455200-45469000	Weak transcription	Fetal Kidney	kidney
9	chr21:45455200-45469200	Weak transcription	Psoas Muscle	Psoas
10	chr21:45456000-45469000	Weak transcription	HUVEC	blood vessel
11	chr21:45457000-45468200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr21:45457600-45469200	Weak transcription	NH-A	brain
13	chr21:45457600-45474000	Weak transcription	A549	lung
14	chr21:45457800-45475600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:45458000-45482800	Weak transcription	HMEC	breast
16	chr21:45458200-45479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:45458200-45483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr21:45458400-45469000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr21:45458800-45469000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:45458800-45471600	Weak transcription	Small Intestine	intestine
21	chr21:45459000-45470400	Weak transcription	Colon Smooth Muscle	Colon
22	chr21:45459000-45471400	Weak transcription	Fetal Lung	lung
23	chr21:45459000-45474800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr21:45459000-45475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr21:45459200-45471600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr21:45459200-45471600	Weak transcription	NHDF-Ad	bronchial
27	chr21:45459200-45472400	Weak transcription	Brain Germinal Matrix	brain
28	chr21:45459400-45469000	Weak transcription	NHLF	lung
29	chr21:45459400-45469000	Weak transcription	Osteobl	bone
30	chr21:45459400-45469400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr21:45459400-45471600	Weak transcription	Gastric	stomach
32	chr21:45459400-45471800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:45459400-45472000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr21:45459400-45472800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr21:45459400-45473400	Weak transcription	HepG2	liver
36	chr21:45459400-45478000	Weak transcription	Aorta	Aorta
37	chr21:45459400-45483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:45459600-45469000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr21:45459800-45468800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr21:45460000-45469000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr21:45460000-45469000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr21:45460000-45471600	Weak transcription	Fetal Brain Female	brain
43	chr21:45460000-45474600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr21:45460000-45477800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr21:45460600-45469000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr21:45460600-45471400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr21:45460600-45472000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr21:45460600-45472400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:45460800-45471400	Weak transcription	Right Ventricle	heart
50	chr21:45462600-45472400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links