Variant report

Variant	rs10865979
Chromosome Location	chr3:53206630-53206631
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53204421..53206931-chr3:53208299..53209885,2	MCF-7	breast:
2	chr3:53206286..53208790-chr3:53209926..53212875,3	K562	blood:
3	chr3:53204795..53206722-chr3:53230021..53232845,2	K562	blood:
4	chr3:53199183..53202732-chr3:53204136..53207026,5	K562	blood:
5	chr3:53194470..53197152-chr3:53205968..53208178,2	MCF-7	breast:
6	chr3:53198720..53200683-chr3:53205526..53209327,4	K562	blood:

Variant related genes	Relation type
ENSG00000163932	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10865978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2128709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55709737	1.00[AMR][1000 genomes]
rs6445567	1.00[AMR][1000 genomes]
rs6445568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7622987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9311490	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53196400-53210200	Weak transcription	Psoas Muscle	Psoas
2	chr3:53196400-53212400	Weak transcription	Aorta	Aorta
3	chr3:53197200-53213400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:53197400-53207000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:53197600-53206800	Weak transcription	Primary T cells from cord blood	blood
6	chr3:53197600-53227600	Weak transcription	Hela-S3	cervix
7	chr3:53197800-53214000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:53198000-53206800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:53198000-53215600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr3:53200200-53207200	Enhancers	Fetal Thymus	thymus
11	chr3:53200600-53206800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:53200600-53229600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:53200800-53207200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr3:53201000-53207000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:53201200-53210400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:53201400-53212400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:53201400-53212600	Weak transcription	Ovary	ovary
18	chr3:53201400-53212800	Weak transcription	Left Ventricle	heart
19	chr3:53201600-53209400	Weak transcription	HSMM	muscle
20	chr3:53201600-53212800	Weak transcription	NHDF-Ad	bronchial
21	chr3:53201600-53228000	Weak transcription	NH-A	brain
22	chr3:53202000-53207800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:53202000-53209400	Weak transcription	Osteobl	bone
24	chr3:53202000-53212400	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:53202000-53212600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:53202000-53228400	Weak transcription	Fetal Kidney	kidney
27	chr3:53202400-53208400	Weak transcription	NHEK	skin
28	chr3:53202800-53229600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:53203200-53207200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:53203200-53207800	Weak transcription	Right Ventricle	heart
31	chr3:53203200-53226800	Strong transcription	Fetal Stomach	stomach
32	chr3:53203600-53211400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:53203600-53212800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:53203600-53229800	Weak transcription	A549	lung
35	chr3:53203800-53206800	Genic enhancers	Gastric	stomach
36	chr3:53203800-53207000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:53203800-53210600	Genic enhancers	Spleen	Spleen
38	chr3:53204000-53207400	Enhancers	Fetal Muscle Trunk	muscle
39	chr3:53204000-53210400	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr3:53204000-53212600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:53204200-53211400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr3:53204400-53207400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:53204600-53206800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:53204600-53206800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
45	chr3:53204600-53207200	Weak transcription	Thymus	Thymus
46	chr3:53204600-53213600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:53204800-53206800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:53204800-53206800	Enhancers	Placenta	Placenta
49	chr3:53204800-53206800	Flanking Active TSS	GM12878-XiMat	blood
50	chr3:53204800-53207000	Enhancers	H1 Cell Line	embryonic stem cell

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