Variant report

Variant	rs9975298
Chromosome Location	chr21:46606591-46606592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46605915..46607896-chr21:46668846..46670608,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28655836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9306120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9974131	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9974770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9975551	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9976215	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9978454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9979047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9979324	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9980279	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9980347	0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9981110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9981978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	esv1802303	chr21:46580319-46606676	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
14	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46589000-46646000	Weak transcription	Colonic Mucosa	Colon
2	chr21:46590000-46608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:46590800-46607000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:46595600-46607400	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr21:46595800-46607400	Strong transcription	Stomach Smooth Muscle	stomach
6	chr21:46599600-46607400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr21:46600200-46606600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:46600400-46606600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr21:46600400-46607200	Weak transcription	Small Intestine	intestine
10	chr21:46603600-46606600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr21:46603600-46607600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:46604200-46606600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr21:46604400-46606600	Strong transcription	Right Ventricle	heart
14	chr21:46604400-46606800	Strong transcription	Ovary	ovary
15	chr21:46604400-46607800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr21:46604600-46606600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr21:46604600-46606600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr21:46604600-46606800	Strong transcription	Placenta	Placenta
19	chr21:46604600-46615000	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr21:46604800-46606600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:46604800-46606600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr21:46604800-46606600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:46604800-46606600	Strong transcription	Brain Angular Gyrus	brain
24	chr21:46604800-46606600	Strong transcription	Brain Cingulate Gyrus	brain
25	chr21:46604800-46606600	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr21:46604800-46606600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr21:46604800-46606600	Strong transcription	Fetal Kidney	kidney
28	chr21:46604800-46606800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr21:46604800-46606800	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr21:46604800-46607000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr21:46604800-46607000	Strong transcription	Fetal Intestine Large	intestine
32	chr21:46604800-46608000	Strong transcription	HSMMtube	muscle
33	chr21:46604800-46609200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:46604800-46610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr21:46604800-46610600	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr21:46604800-46611400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr21:46604800-46618200	Strong transcription	Hela-S3	cervix
38	chr21:46605000-46606600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr21:46605000-46606600	Strong transcription	Psoas Muscle	Psoas
40	chr21:46605000-46606800	Strong transcription	Rectal Smooth Muscle	rectum
41	chr21:46605000-46608000	ZNF genes & repeats	HSMM	muscle
42	chr21:46605200-46606600	Strong transcription	HepG2	liver
43	chr21:46605200-46610800	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr21:46605200-46620000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:46605400-46610200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr21:46605600-46607000	ZNF genes & repeats	Fetal Brain Male	brain
47	chr21:46605600-46608200	Weak transcription	Fetal Intestine Small	intestine
48	chr21:46605600-46610600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr21:46605800-46606600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr21:46605800-46606800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links