Variant report

Variant	rs17051036
Chromosome Location	chr3:50666581-50666582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50647648..50649615-chr3:50665520..50668181,2	K562	blood:
2	chr3:50658545..50662764-chr3:50665293..50666982,3	K562	blood:
3	chr3:50665308..50667581-chr3:50670455..50672220,2	K562	blood:
4	chr3:50665770..50667653-chr3:50672418..50674764,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114738	Chromatin interaction
ENSG00000114737	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13321914	1.00[AMR][1000 genomes]
rs17050997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051020	1.00[AMR][1000 genomes]
rs17051027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2085581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232252	1.00[AMR][1000 genomes]
rs2355324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2355336	1.00[AFR][1000 genomes]
rs28496515	1.00[AMR][1000 genomes]
rs28525150	1.00[AMR][1000 genomes]
rs28546448	1.00[AMR][1000 genomes]
rs736472	1.00[AMR][1000 genomes]
rs751850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs762893	1.00[AMR][1000 genomes]
rs762894	1.00[AMR][1000 genomes]
rs9822071	1.00[AMR][1000 genomes]
rs9832171	1.00[AMR][1000 genomes]
rs9841390	1.00[AMR][1000 genomes]
rs9841986	1.00[AMR][1000 genomes]
rs9850032	1.00[AMR][1000 genomes]
rs9866852	1.00[AMR][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	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50655400-50677800	Weak transcription	Aorta	Aorta
2	chr3:50655600-50681200	Weak transcription	Fetal Brain Female	brain
3	chr3:50656000-50675600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:50656000-50677800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:50657600-50678200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:50658400-50669000	Strong transcription	Fetal Stomach	stomach
7	chr3:50660200-50671600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:50660200-50677000	Weak transcription	Liver	Liver
9	chr3:50661200-50668800	Strong transcription	Fetal Intestine Small	intestine
10	chr3:50661400-50671600	Enhancers	Left Ventricle	heart
11	chr3:50661600-50667200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:50661600-50670600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr3:50661600-50674400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:50661600-50675800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:50661600-50688200	Weak transcription	Small Intestine	intestine
16	chr3:50661800-50666600	Enhancers	Placenta	Placenta
17	chr3:50661800-50669000	Strong transcription	Fetal Intestine Large	intestine
18	chr3:50662000-50668600	Genic enhancers	Spleen	Spleen
19	chr3:50662200-50667600	Weak transcription	K562	blood
20	chr3:50662200-50669000	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr3:50662400-50670000	Weak transcription	Fetal Lung	lung
22	chr3:50662400-50671000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr3:50662400-50672000	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:50662400-50678200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:50662600-50667400	Weak transcription	HepG2	liver
26	chr3:50662600-50667600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr3:50662600-50675800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:50663200-50667200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr3:50663200-50667600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:50663200-50667800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr3:50663200-50669200	Genic enhancers	Fetal Thymus	thymus
32	chr3:50663200-50677600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:50663400-50668600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:50663400-50690000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:50663600-50667200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:50663800-50669200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:50664000-50669000	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:50664200-50667000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:50664200-50669600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr3:50664200-50672600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr3:50664400-50672800	Genic enhancers	Dnd41	blood
42	chr3:50664600-50666800	Enhancers	Brain Hippocampus Middle	brain
43	chr3:50665000-50666600	Enhancers	GM12878-XiMat	blood
44	chr3:50665000-50668600	Enhancers	Right Ventricle	heart
45	chr3:50665200-50667800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:50665200-50669200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:50665200-50674400	Weak transcription	Colonic Mucosa	Colon
48	chr3:50665400-50667600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:50665400-50667600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:50665400-50668000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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