Variant report

Variant	rs41477051
Chromosome Location	chr3:99744384-99744385
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	chr3:99738958..99740738-chr3:99742397..99744464,2	K562	blood:
2	chr3:99535676..99538284-chr3:99742285..99745121,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184220	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17313676	0.89[AFR][1000 genomes]
rs17314245	0.89[AFR][1000 genomes]
rs17314280	0.89[AFR][1000 genomes]
rs17392822	0.89[AFR][1000 genomes]
rs17393080	0.89[AFR][1000 genomes]
rs41444055	1.00[AFR][1000 genomes]
rs6762871	0.89[AFR][1000 genomes]
rs6764470	1.00[AFR][1000 genomes]
rs6765822	1.00[AFR][1000 genomes]
rs6778756	1.00[AFR][1000 genomes]
rs6784150	0.89[AFR][1000 genomes]
rs6787184	1.00[AFR][1000 genomes]
rs6789840	1.00[AFR][1000 genomes]
rs6790187	0.89[AFR][1000 genomes]
rs6791426	1.00[AFR][1000 genomes]
rs6807615	0.89[AFR][1000 genomes]
rs7639304	0.89[AFR][1000 genomes]
rs766777	0.89[AFR][1000 genomes]
rs768527	1.00[AFR][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	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv999332	chr3:99690207-99774720	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99713600-99787800	Weak transcription	Primary T cells from cord blood	blood
2	chr3:99716400-99758800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:99722400-99751000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:99725000-99745600	Weak transcription	Left Ventricle	heart
5	chr3:99726400-99748200	Weak transcription	HSMM	muscle
6	chr3:99727000-99746400	Weak transcription	Right Atrium	heart
7	chr3:99728400-99760400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:99728800-99746200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:99733800-99745800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:99735600-99750400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:99738400-99744400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:99739800-99744800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:99741000-99744800	Enhancers	Psoas Muscle	Psoas
14	chr3:99741200-99744400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:99741200-99744600	Enhancers	NH-A	brain
16	chr3:99741200-99744600	Enhancers	Osteobl	bone
17	chr3:99741200-99766800	Weak transcription	Right Ventricle	heart
18	chr3:99741400-99744400	Enhancers	HepG2	liver
19	chr3:99741400-99744800	Enhancers	NHDF-Ad	bronchial
20	chr3:99741600-99744400	Enhancers	Fetal Intestine Large	intestine
21	chr3:99741600-99744800	Enhancers	Ovary	ovary
22	chr3:99741800-99744600	Enhancers	Fetal Intestine Small	intestine
23	chr3:99741800-99745200	Enhancers	Stomach Mucosa	stomach
24	chr3:99742200-99745600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:99742200-99751000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr3:99742400-99766400	Weak transcription	Aorta	Aorta
27	chr3:99742600-99749200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:99742800-99744800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr3:99742800-99745200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:99743000-99750800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:99743800-99744400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:99743800-99744400	Weak transcription	HUVEC	blood vessel
33	chr3:99743800-99748800	Weak transcription	Adipose Nuclei	Adipose
34	chr3:99743800-99749000	Weak transcription	HMEC	breast
35	chr3:99743800-99751000	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:99743800-99751200	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:99743800-99752200	Weak transcription	A549	lung
38	chr3:99743800-99759200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr3:99744000-99748600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:99744000-99753200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:99744200-99744600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:99744200-99744600	Weak transcription	NHEK	skin
43	chr3:99744200-99745600	Weak transcription	Pancreas	Pancrea
44	chr3:99744200-99748400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:99744200-99748600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:99744200-99748600	Weak transcription	HSMMtube	muscle
47	chr3:99744200-99748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:99744200-99750800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr3:99744200-99753000	Weak transcription	Fetal Kidney	kidney
50	chr3:99744200-99759400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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