Variant report

Variant	rs744663
Chromosome Location	chr2:20820901-20820902
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20674741..20676765-chr2:20820633..20823389,2	MCF-7	breast:
2	chr2:20646046..20647811-chr2:20820428..20821951,2	K562	blood:
3	chr2:20816763..20821100-chr2:20824834..20828532,5	K562	blood:
4	chr2:20818751..20820914-chr2:20842714..20844441,2	MCF-7	breast:
5	chr2:20643596..20652981-chr2:20820571..20828990,20	MCF-7	breast:
6	chr2:20665733..20672605-chr2:20815236..20823686,12	MCF-7	breast:
7	chr2:20818868..20821100-chr2:20824834..20827973,3	K562	blood:
8	chr2:20817280..20821353-chr2:20848044..20851873,4	MCF-7	breast:
9	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
10	chr2:20665945..20667878-chr2:20818560..20821196,2	MCF-7	breast:
11	chr2:20818383..20821055-chr2:20822023..20824798,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000143878	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13003661	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012178	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13027694	0.81[EUR][1000 genomes]
rs17662465	0.81[EUR][1000 genomes]
rs17662495	0.81[EUR][1000 genomes]
rs17662614	0.81[EUR][1000 genomes]
rs17662644	0.81[EUR][1000 genomes]
rs17663045	0.80[EUR][1000 genomes]
rs17719096	0.81[EUR][1000 genomes]
rs17719114	0.81[EUR][1000 genomes]
rs17719159	0.81[EUR][1000 genomes]
rs2305459	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34101445	0.81[EUR][1000 genomes]
rs34216303	0.81[EUR][1000 genomes]
rs34405290	0.81[EUR][1000 genomes]
rs35001606	0.81[EUR][1000 genomes]
rs35311387	0.81[EUR][1000 genomes]
rs35527388	0.81[EUR][1000 genomes]
rs35755927	0.80[EUR][1000 genomes]
rs3732150	0.81[EUR][1000 genomes]
rs4456661	0.99[ASN][1000 genomes]
rs56905664	0.81[EUR][1000 genomes]
rs60541580	0.81[EUR][1000 genomes]
rs6531249	0.82[EUR][1000 genomes]
rs72782402	0.83[EUR][1000 genomes]
rs745687	0.81[EUR][1000 genomes]
rs870309	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896736	0.81[EUR][1000 genomes]
rs9306893	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active 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	10 gene(s)	inside rSNPs	diseases
6	nsv1008473	chr2:20811359-20879186	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535599	chr2:20811359-20879186	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv517472	chr2:20814583-20855176	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised 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	20 gene(s)	inside rSNPs	diseases
9	nsv873725	chr2:20814583-20855176	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
10	nsv527901	chr2:20818458-20876386	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20812400-20821200	Enhancers	Left Ventricle	heart
2	chr2:20815000-20831800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:20815000-20847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:20815600-20824200	Enhancers	Fetal Heart	heart
5	chr2:20816000-20821000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:20816400-20821600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr2:20817000-20824200	Weak transcription	Thymus	Thymus
8	chr2:20817200-20823200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:20817200-20826600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:20817400-20821400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:20817400-20821400	Weak transcription	Fetal Brain Female	brain
12	chr2:20817400-20827200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:20817400-20831400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:20817400-20835200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:20817400-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:20817600-20832200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:20817600-20850000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:20817800-20823000	Weak transcription	Small Intestine	intestine
19	chr2:20817800-20826200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:20817800-20833800	Weak transcription	Fetal Thymus	thymus
21	chr2:20818000-20825600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:20818200-20823800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:20818200-20825200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:20818200-20828600	Weak transcription	Fetal Kidney	kidney
25	chr2:20818200-20835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:20818200-20835000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:20818400-20821000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:20818400-20821000	Genic enhancers	Lung	lung
29	chr2:20818400-20822200	Weak transcription	HMEC	breast
30	chr2:20818400-20823400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:20818400-20825000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:20818400-20825600	Weak transcription	HUVEC	blood vessel
33	chr2:20818400-20828800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:20818400-20828800	Weak transcription	Fetal Brain Male	brain
35	chr2:20818400-20831800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:20818600-20824800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:20818600-20825600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:20818800-20821200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:20818800-20824800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:20818800-20825200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:20818800-20826200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:20818800-20833600	Weak transcription	A549	lung
43	chr2:20818800-20842400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:20819000-20821400	Weak transcription	HSMMtube	muscle
45	chr2:20819000-20821800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr2:20819000-20822600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:20819000-20847400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:20819200-20822400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:20819200-20824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:20819200-20825000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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