Variant report

Variant	rs6798669
Chromosome Location	chr3:53064483-53064484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53061590..53065851-chr3:53079689..53082481,4	K562	blood:
2	chr3:53064347..53066735-chr3:53078484..53080283,2	K562	blood:

Variant related genes	Relation type
ENSG00000163935	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs56665986	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56835905	0.92[AFR][1000 genomes]
rs56895623	1.00[AFR][1000 genomes]
rs57273027	0.84[AFR][1000 genomes]
rs57465047	0.92[AFR][1000 genomes]
rs57561909	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57654423	0.86[AFR][1000 genomes]
rs58249114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58888768	0.92[AFR][1000 genomes]
rs59224641	0.98[AFR][1000 genomes]
rs59838592	0.95[AFR][1000 genomes]
rs60648378	0.98[AFR][1000 genomes]
rs61324750	0.86[AFR][1000 genomes]
rs61331336	0.85[AFR][1000 genomes]
rs61437303	0.92[AFR][1000 genomes]
rs61438885	0.92[AFR][1000 genomes]
rs6798309	0.98[AFR][1000 genomes]
rs72959475	0.84[AFR][1000 genomes]
rs72959477	0.84[AFR][1000 genomes]
rs72959478	0.87[AFR][1000 genomes]
rs72959479	0.84[AFR][1000 genomes]
rs72959482	0.84[AFR][1000 genomes]
rs72959487	0.84[AFR][1000 genomes]
rs72959494	0.86[AFR][1000 genomes]
rs72959499	0.87[AFR][1000 genomes]
rs72961704	0.84[AFR][1000 genomes]
rs72961705	0.86[AFR][1000 genomes]
rs72961708	0.86[AFR][1000 genomes]
rs72961724	0.92[AFR][1000 genomes]
rs72961730	0.92[AFR][1000 genomes]
rs72961733	0.92[AFR][1000 genomes]
rs72961742	0.98[AFR][1000 genomes]
rs72961752	0.98[AFR][1000 genomes]
rs72965340	1.00[AFR][1000 genomes]
rs72965348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965358	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965366	0.92[AFR][1000 genomes]
rs72965370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72965381	0.93[AFR][1000 genomes]
rs7618417	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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:61 , 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	chr3:53052000-53064800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:53054000-53070600	Weak transcription	Right Ventricle	heart
10	chr3:53054400-53064800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr3:53056600-53065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:53056600-53077800	Weak transcription	Fetal Stomach	stomach
13	chr3:53057400-53065000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:53057800-53064600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr3:53058600-53064800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr3:53060000-53064800	Weak transcription	HMEC	breast
17	chr3:53060000-53065000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:53060000-53065000	Weak transcription	Dnd41	blood
19	chr3:53060000-53066000	Weak transcription	Right Atrium	heart
20	chr3:53060400-53064800	Weak transcription	Primary B cells from cord blood	blood
21	chr3:53060800-53065000	Weak transcription	Esophagus	oesophagus
22	chr3:53061800-53065000	Weak transcription	A549	lung
23	chr3:53061800-53070000	Weak transcription	Psoas Muscle	Psoas
24	chr3:53061800-53070800	Weak transcription	Left Ventricle	heart
25	chr3:53061800-53074400	Weak transcription	Osteobl	bone
26	chr3:53062200-53064800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:53062200-53064800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:53062200-53065000	Weak transcription	Liver	Liver
29	chr3:53062200-53065200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:53062200-53074400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:53062200-53076800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:53062200-53077000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:53062400-53065200	Weak transcription	Ovary	ovary
34	chr3:53062400-53071000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:53062600-53065000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr3:53062600-53066400	Weak transcription	HepG2	liver
37	chr3:53063000-53065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:53063000-53065000	Weak transcription	Lung	lung
39	chr3:53063000-53065000	Weak transcription	Pancreas	Pancrea
40	chr3:53063200-53065600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:53063200-53066000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:53063200-53067000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr3:53063400-53064800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:53063400-53065000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:53063400-53065000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr3:53063400-53065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:53063400-53067000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:53063600-53064800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:53063600-53065000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:53063600-53066800	Enhancers	Primary T cells from cord blood	blood

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