Variant report

Variant	rs72816843
Chromosome Location	chr10:22881547-22881548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:22881508-22881968	K562	blood:	n/a	n/a
2	POLR2A	chr10:22881486-22881838	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:22881423..22883743-chr10:22885437..22887550,3	MCF-7	breast:

Variant related genes	Relation type
PIP4K2A	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs55839230	1.00[AMR][1000 genomes]
rs55896828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72814844	1.00[AMR][1000 genomes]
rs72814850	1.00[AMR][1000 genomes]
rs72816807	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72816813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72816814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72816817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72816821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72816822	0.94[EUR][1000 genomes]
rs72816823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72816824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72816828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72816829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72816831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72816836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72816839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816854	1.00[AMR][1000 genomes]
rs72816861	1.00[AMR][1000 genomes]
rs72816867	1.00[AMR][1000 genomes]
rs72816870	1.00[AMR][1000 genomes]
rs72816876	1.00[AMR][1000 genomes]
rs72816881	1.00[AMR][1000 genomes]
rs72816884	1.00[AMR][1000 genomes]
rs72816885	1.00[AMR][1000 genomes]
rs72816887	1.00[AMR][1000 genomes]
rs72816889	1.00[AMR][1000 genomes]
rs72816890	1.00[AMR][1000 genomes]
rs72816895	1.00[AMR][1000 genomes]
rs72816896	1.00[AMR][1000 genomes]
rs72816897	1.00[AMR][1000 genomes]
rs72816898	1.00[AMR][1000 genomes]
rs72816899	1.00[AMR][1000 genomes]
rs72816900	1.00[AMR][1000 genomes]
rs72818804	1.00[AMR][1000 genomes]
rs72818805	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	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22825600-22888000	Weak transcription	HMEC	breast
2	chr10:22829000-22887400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:22844200-22904800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:22850400-22882000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:22850400-22882600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:22854200-22887400	Weak transcription	NHDF-Ad	bronchial
7	chr10:22854200-22887400	Weak transcription	NHEK	skin
8	chr10:22855600-22882600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr10:22856600-22899200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr10:22856800-22888200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:22857000-22888200	Weak transcription	Small Intestine	intestine
12	chr10:22858200-22904000	Weak transcription	Colonic Mucosa	Colon
13	chr10:22860400-22882200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr10:22862200-22885800	Weak transcription	NHLF	lung
15	chr10:22862400-22886000	Weak transcription	HSMMtube	muscle
16	chr10:22862400-22887400	Weak transcription	A549	lung
17	chr10:22862400-22902000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:22863800-22886400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr10:22864000-22882400	Strong transcription	Primary T cells from cord blood	blood
20	chr10:22866600-22887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:22866600-22893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:22870000-22885600	Weak transcription	NH-A	brain
23	chr10:22870200-22893400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr10:22870400-22895200	Weak transcription	HepG2	liver
25	chr10:22871200-22882200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:22871200-22882600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr10:22872000-22887600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr10:22874000-22888200	Weak transcription	Placenta	Placenta
29	chr10:22875400-22882200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:22875800-22881600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr10:22875800-22881800	Strong transcription	Primary B cells from cord blood	blood
32	chr10:22875800-22882000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:22875800-22882000	Strong transcription	Fetal Thymus	thymus
34	chr10:22875800-22888000	Weak transcription	Stomach Mucosa	stomach
35	chr10:22876200-22882200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr10:22876400-22882200	Strong transcription	Dnd41	blood
37	chr10:22876600-22881800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr10:22876600-22882000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:22876600-22885600	Strong transcription	GM12878-XiMat	blood
40	chr10:22877200-22896400	Weak transcription	Fetal Intestine Large	intestine
41	chr10:22877400-22890200	Weak transcription	Right Ventricle	heart
42	chr10:22877600-22882800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr10:22877600-22893400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:22878400-22881800	Strong transcription	Thymus	Thymus
45	chr10:22878600-22886000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr10:22878800-22881600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:22878800-22882000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:22878800-22882000	Strong transcription	Spleen	Spleen
49	chr10:22878800-22882200	Strong transcription	Fetal Muscle Leg	muscle
50	chr10:22879000-22881600	Strong transcription	Fetal Muscle Trunk	muscle

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