Variant report

Variant	rs73219647
Chromosome Location	chr3:196226885-196226886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196221498..196224147-chr3:196224892..196227326,3	K562	blood:
2	chr3:195954091..195957267-chr3:196224695..196228323,3	K562	blood:
3	chr3:196225951..196229671-chr3:196232919..196236791,4	K562	blood:
4	chr3:196215382..196218284-chr3:196226840..196230501,3	K562	blood:
5	chr3:196014060..196015783-chr3:196226858..196228542,2	K562	blood:

Variant related genes	Relation type
ENSG00000161217	Chromatin interaction
ENSG00000163959	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56233974	0.96[EUR][1000 genomes]
rs60280349	0.96[EUR][1000 genomes]
rs61457417	0.98[EUR][1000 genomes]
rs73213994	0.93[EUR][1000 genomes]
rs73213995	0.98[EUR][1000 genomes]
rs73213996	0.98[EUR][1000 genomes]
rs73213997	1.00[EUR][1000 genomes]
rs73214001	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73219637	0.83[EUR][1000 genomes]
rs73219638	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73219639	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73219640	0.83[EUR][1000 genomes]
rs73219641	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73219645	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73219648	0.94[EUR][1000 genomes]
rs73219649	0.94[EUR][1000 genomes]
rs73891247	0.96[EUR][1000 genomes]
rs9754933	1.00[EUR][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	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer 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	55 gene(s)	inside rSNPs	diseases
7	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	84 gene(s)	inside rSNPs	diseases
9	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196199400-196227000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:196214400-196227000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:196214400-196227000	Weak transcription	Fetal Lung	lung
4	chr3:196214400-196227000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:196214400-196228200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:196214800-196227200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:196215000-196227000	Weak transcription	Placenta	Placenta
8	chr3:196217800-196227000	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:196218000-196227000	Weak transcription	Brain Angular Gyrus	brain
10	chr3:196223400-196227000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:196223800-196227000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:196224800-196227400	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr3:196225000-196227200	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr3:196225000-196227200	Enhancers	Left Ventricle	heart
15	chr3:196225000-196227200	Enhancers	Ovary	ovary
16	chr3:196225000-196227600	Enhancers	Small Intestine	intestine
17	chr3:196225400-196227000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr3:196225400-196227000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:196225400-196227000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:196225400-196227400	Transcr. at gene 5' and 3'	K562	blood
21	chr3:196225600-196227000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:196225800-196227000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr3:196225800-196227000	Transcr. at gene 5' and 3'	Hela-S3	cervix
24	chr3:196225800-196227000	Enhancers	Osteobl	bone
25	chr3:196225800-196227200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:196225800-196227400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:196225800-196227400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:196225800-196227400	Flanking Active TSS	NHEK	skin
29	chr3:196225800-196231600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:196226000-196227000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:196226000-196227000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:196226000-196227000	Enhancers	Esophagus	oesophagus
33	chr3:196226000-196227000	Strong transcription	Fetal Intestine Small	intestine
34	chr3:196226000-196227000	Genic enhancers	Fetal Thymus	thymus
35	chr3:196226000-196227000	Enhancers	Psoas Muscle	Psoas
36	chr3:196226000-196227000	Flanking Active TSS	HepG2	liver
37	chr3:196226000-196227200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:196226000-196227200	Enhancers	Gastric	stomach
39	chr3:196226000-196227400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:196226000-196227400	Flanking Active TSS	NH-A	brain
41	chr3:196226200-196227000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:196226200-196227000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr3:196226200-196227200	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr3:196226200-196227200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:196226200-196227200	Enhancers	HSMM	muscle
46	chr3:196226200-196227600	Flanking Active TSS	HUVEC	blood vessel
47	chr3:196226400-196227000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr3:196226400-196227000	Enhancers	Stomach Smooth Muscle	stomach
49	chr3:196226400-196227000	Enhancers	HSMMtube	muscle
50	chr3:196226400-196227400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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