Variant report

Variant	rs4819350
Chromosome Location	chr21:45357301-45357302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45233511..45236046-chr21:45357246..45359137,3	K562	blood:
2	chr21:45340527..45345737-chr21:45352879..45360873,10	K562	blood:
3	chr21:45281403..45288287-chr21:45354667..45363125,18	K562	blood:
4	chr21:45284305..45287858-chr21:45357058..45361735,4	MCF-7	breast:
5	chr21:45137547..45139437-chr21:45356749..45358555,2	K562	blood:
6	chr21:45206922..45209430-chr21:45356073..45358074,2	K562	blood:
7	chr21:45284948..45286512-chr21:45355740..45358055,2	K562	blood:
8	chr21:45356322..45359085-chr21:46493107..46495918,2	K562	blood:
9	chr21:45355633..45358053-chr21:45363187..45364790,2	K562	blood:
10	chr21:45233511..45237736-chr21:45356519..45359137,5	K562	blood:
11	chr21:45349099..45350809-chr21:45357162..45358991,2	MCF-7	breast:
12	chr21:45223833..45232004-chr21:45356708..45361221,12	K562	blood:
13	chr21:45229257..45231594-chr21:45356288..45358208,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1005192	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573474	0.95[JPT][hapmap]
rs1888525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838435	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838439	0.80[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4819340	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4819345	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518334	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs6518335	0.89[EUR][1000 genomes]
rs6518337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276578	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs762411	0.86[JPT][hapmap]
rs762415	0.85[JPT][hapmap]
rs8127341	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs914196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306166	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974282	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9985035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];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	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	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
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	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
6	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1055772	chr21:45353436-45373304	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45337600-45358600	Weak transcription	Osteobl	bone
2	chr21:45338800-45358600	Weak transcription	Hela-S3	cervix
3	chr21:45340800-45358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:45341400-45358600	Weak transcription	A549	lung
5	chr21:45342200-45358800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:45343000-45357600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
8	chr21:45343600-45358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr21:45343800-45357600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr21:45343800-45358600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:45343800-45358600	Weak transcription	HSMM	muscle
12	chr21:45343800-45358800	Weak transcription	Ovary	ovary
13	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:45344400-45358400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr21:45345200-45358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr21:45345400-45358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:45348400-45363800	Weak transcription	Aorta	Aorta
18	chr21:45348800-45358600	Weak transcription	NHEK	skin
19	chr21:45349400-45359200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:45349800-45357600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr21:45350000-45357600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr21:45350000-45358400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr21:45350200-45358600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr21:45350400-45364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr21:45350800-45357600	Weak transcription	Primary B cells from cord blood	blood
26	chr21:45351000-45358400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:45351200-45358600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:45351200-45358600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr21:45351200-45358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr21:45352400-45368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr21:45353600-45358600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr21:45353600-45358800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr21:45353600-45358800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr21:45353600-45358800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr21:45353600-45366600	Weak transcription	Fetal Brain Female	brain
36	chr21:45353800-45358600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr21:45353800-45358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:45354600-45358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr21:45355000-45358400	Enhancers	K562	blood
40	chr21:45355000-45358600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr21:45355000-45358600	Weak transcription	Dnd41	blood
42	chr21:45355200-45357400	Weak transcription	Esophagus	oesophagus
43	chr21:45355200-45357600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:45355200-45358400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr21:45355200-45358400	Weak transcription	Pancreas	Pancrea
46	chr21:45355200-45358600	Weak transcription	Colonic Mucosa	Colon
47	chr21:45355200-45358800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:45355200-45358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:45355400-45358600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr21:45355600-45358200	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links