Variant report

Variant	rs73042252
Chromosome Location	chr2:191158647-191158648
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191156936..191159599-chr2:191165960..191167883,2	MCF-7	breast:
2	chr2:191146808..191148999-chr2:191158646..191161593,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55720128	1.00[AMR][1000 genomes]
rs56377734	1.00[AMR][1000 genomes]
rs56727995	1.00[EUR][1000 genomes]
rs57122175	1.00[AMR][1000 genomes]
rs57343761	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57582672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57628475	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60584672	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709330	1.00[AMR][1000 genomes]
rs6712402	1.00[AMR][1000 genomes]
rs6723320	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6735577	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73053718	1.00[AMR][1000 genomes]
rs73053733	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055787	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978977	1.00[AMR][1000 genomes]
rs73981026	1.00[AMR][1000 genomes]
rs73981054	1.00[AMR][1000 genomes]
rs73981061	1.00[AMR][1000 genomes]
rs7594755	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875621	chr2:191117120-191177131	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
2	chr2:191105000-191180000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:191108200-191180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:191109800-191163000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:191115600-191162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:191115600-191182000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:191116600-191183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:191117400-191183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:191121000-191181400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:191123200-191177600	Weak transcription	Colonic Mucosa	Colon
11	chr2:191123400-191160000	Weak transcription	Ovary	ovary
12	chr2:191125800-191159000	Weak transcription	HSMM	muscle
13	chr2:191132600-191180200	Weak transcription	NH-A	brain
14	chr2:191135600-191183200	Weak transcription	Fetal Brain Male	brain
15	chr2:191137400-191183200	Weak transcription	A549	lung
16	chr2:191140000-191165600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:191141800-191183000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:191142400-191173200	Weak transcription	NHLF	lung
19	chr2:191142600-191180200	Weak transcription	Hela-S3	cervix
20	chr2:191142600-191181200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:191143000-191167000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:191143000-191183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:191143200-191162000	Strong transcription	Liver	Liver
24	chr2:191144400-191165600	Weak transcription	Stomach Mucosa	stomach
25	chr2:191145200-191164800	Weak transcription	Fetal Brain Female	brain
26	chr2:191145200-191166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:191145600-191183200	Weak transcription	HUVEC	blood vessel
28	chr2:191145800-191166000	Weak transcription	Right Ventricle	heart
29	chr2:191145800-191183000	Weak transcription	HMEC	breast
30	chr2:191146000-191160600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:191146000-191171000	Weak transcription	Psoas Muscle	Psoas
32	chr2:191146000-191181200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:191146000-191181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:191146200-191165800	Weak transcription	Brain Substantia Nigra	brain
35	chr2:191146400-191172600	Weak transcription	HSMMtube	muscle
36	chr2:191146600-191166800	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:191148400-191161800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:191148600-191161400	Strong transcription	Fetal Thymus	thymus
39	chr2:191149000-191158800	Weak transcription	NHDF-Ad	bronchial
40	chr2:191149000-191173400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:191149200-191159200	Weak transcription	Osteobl	bone
42	chr2:191149200-191176600	Weak transcription	NHEK	skin
43	chr2:191149200-191183200	Weak transcription	Fetal Kidney	kidney
44	chr2:191149600-191161600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:191149800-191162800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:191150000-191162200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:191150800-191173200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:191150800-191173800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:191151000-191160800	Weak transcription	Spleen	Spleen
50	chr2:191151000-191170800	Weak transcription	Lung	lung

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