Variant report

Variant	rs9822686
Chromosome Location	chr3:53061683-53061684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53061590..53065851-chr3:53079689..53082481,4	K562	blood:
2	chr3:53047316..53051698-chr3:53056732..53062167,5	MCF-7	breast:
3	chr3:53058305..53064318-chr3:53075790..53081540,9	K562	blood:
4	chr3:53059584..53062030-chr3:53075790..53077753,2	K562	blood:
5	chr3:53060296..53062382-chr3:53075868..53077771,2	MCF-7	breast:
6	chr3:53056126..53058134-chr3:53061359..53063994,2	K562	blood:

Variant related genes	Relation type
ENSG00000163935	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2001734	1.00[CHB][hapmap]
rs2276820	1.00[CHB][hapmap]
rs2276822	1.00[CHB][hapmap]
rs2336155	1.00[CHB][hapmap]
rs2336559	1.00[CHB][hapmap]
rs2535632	1.00[CHB][hapmap]
rs28696085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28719645	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2878633	1.00[CHB][hapmap]
rs3806693	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4687665	1.00[CHB][hapmap]
rs55794978	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55885034	1.00[ASN][1000 genomes]
rs56835905	1.00[ASN][1000 genomes]
rs57940327	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58309671	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58840385	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59224641	1.00[ASN][1000 genomes]
rs59515578	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60648378	1.00[ASN][1000 genomes]
rs60744886	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61285888	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61437303	1.00[ASN][1000 genomes]
rs61438885	1.00[ASN][1000 genomes]
rs6765170	1.00[CEU][hapmap]
rs6774869	1.00[CHB][hapmap]
rs72965345	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965350	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965354	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965361	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965362	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965366	1.00[ASN][1000 genomes]
rs72965381	0.84[ASN][1000 genomes]
rs7628501	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7631487	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7637212	1.00[CHB][hapmap]
rs9681089	1.00[CHB][hapmap]
rs9819608	1.00[CHB][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9852646	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv590321	chr3:53027983-53062661	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1823728	chr3:53046712-53080351	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
2	chr3:53033800-53065000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:53037000-53065000	Weak transcription	Fetal Intestine Small	intestine
4	chr3:53040800-53065000	Weak transcription	Fetal Intestine Large	intestine
5	chr3:53043800-53064800	Weak transcription	Stomach Mucosa	stomach
6	chr3:53044600-53065000	Weak transcription	Gastric	stomach
7	chr3:53048800-53077800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:53050600-53062000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:53052000-53064800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:53053000-53063600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:53054000-53070600	Weak transcription	Right Ventricle	heart
12	chr3:53054400-53064800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr3:53056600-53065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:53056600-53077800	Weak transcription	Fetal Stomach	stomach
15	chr3:53057400-53065000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:53057800-53063600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:53057800-53063600	Weak transcription	Primary T cells from cord blood	blood
18	chr3:53057800-53063600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:53057800-53063800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:53057800-53064600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:53058000-53062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:53058600-53062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:53058600-53064800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr3:53059400-53062200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:53059800-53061800	Enhancers	A549	lung
26	chr3:53060000-53061800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr3:53060000-53064800	Weak transcription	HMEC	breast
28	chr3:53060000-53065000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:53060000-53065000	Weak transcription	Dnd41	blood
30	chr3:53060000-53066000	Weak transcription	Right Atrium	heart
31	chr3:53060200-53063200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:53060400-53062200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:53060400-53062200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:53060400-53062800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:53060400-53064800	Weak transcription	Primary B cells from cord blood	blood
36	chr3:53060800-53061800	Enhancers	Psoas Muscle	Psoas
37	chr3:53060800-53065000	Weak transcription	Esophagus	oesophagus
38	chr3:53061000-53062000	Weak transcription	Pancreas	Pancrea
39	chr3:53061000-53063400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:53061000-53063800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:53061200-53062200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:53061200-53062200	Enhancers	HUVEC	blood vessel
43	chr3:53061400-53061800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:53061400-53061800	Enhancers	HSMM	muscle
45	chr3:53061400-53061800	Enhancers	HSMMtube	muscle
46	chr3:53061400-53061800	Enhancers	Osteobl	bone
47	chr3:53061400-53062000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:53061400-53062000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:53061400-53062000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:53061400-53062200	Enhancers	HUES6 Cell Line	embryonic stem cell

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