Variant report

Variant	rs816722
Chromosome Location	chr5:154247859-154247860
allele	C/T
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	chr5:154247695-154247895	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:154246985..154248678-chr5:154279767..154281709,2	MCF-7	breast:
2	chr5:154247235..154249855-chr5:154257849..154259847,2	MCF-7	breast:

Variant related genes	Relation type
CNOT8	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1035368	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12188828	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12300	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs164195	0.88[EUR][1000 genomes]
rs17116411	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17116414	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17116421	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17116442	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17116534	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs180846	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs186971	0.91[EUR][1000 genomes]
rs1974776	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1974777	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2042168	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2112223	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2161128	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2258437	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2396999	0.81[EUR][1000 genomes]
rs2431184	0.85[ASN][1000 genomes]
rs2544859	0.91[EUR][1000 genomes]
rs2544866	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2544874	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2544875	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2544876	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2544880	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2544884	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2560063	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2644743	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2644744	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2644746	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688186	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2688187	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2688188	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2688189	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2688190	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2688191	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2688193	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2688194	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2688195	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2688198	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2688199	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2688200	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2688201	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2688206	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2688208	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs348739	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs348748	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs348749	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs348750	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs348751	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs348752	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs348754	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs39614	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4354100	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs454161	0.85[ASN][1000 genomes]
rs4958771	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55770418	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56374414	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58415346	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59525998	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59749917	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6879277	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6884416	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs702742	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73276742	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73280705	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7723269	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7728194	0.82[EUR][1000 genomes]
rs816717	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs816718	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs816720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs816734	0.81[ASN][1000 genomes]
rs816743	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs888694	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9942412	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154239400-154249800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:154239600-154263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:154240200-154248000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:154240200-154248000	Weak transcription	Gastric	stomach
5	chr5:154240200-154249800	Weak transcription	Pancreas	Pancrea
6	chr5:154240400-154250200	Weak transcription	Fetal Brain Male	brain
7	chr5:154240600-154251000	Weak transcription	Fetal Heart	heart
8	chr5:154240600-154264800	Weak transcription	Stomach Mucosa	stomach
9	chr5:154240800-154248000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:154240800-154249800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:154240800-154250200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:154240800-154256800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:154241000-154255600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:154242000-154248200	Weak transcription	Right Atrium	heart
15	chr5:154242000-154248600	Strong transcription	K562	blood
16	chr5:154242000-154256800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:154242000-154257600	Strong transcription	Fetal Thymus	thymus
18	chr5:154242200-154248400	Weak transcription	Colonic Mucosa	Colon
19	chr5:154242200-154256800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:154242200-154256800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:154242400-154257000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:154242400-154257000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:154242400-154257600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:154242400-154257600	Strong transcription	Liver	Liver
25	chr5:154242600-154248400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:154242600-154249000	Strong transcription	Primary hematopoietic stem cells	blood
27	chr5:154242800-154248600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:154242800-154249000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr5:154242800-154256800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:154242800-154256800	Strong transcription	Placenta	Placenta
31	chr5:154242800-154257000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:154242800-154257000	Strong transcription	HUVEC	blood vessel
33	chr5:154242800-154257200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:154242800-154257600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr5:154243000-154248000	Weak transcription	Brain Angular Gyrus	brain
36	chr5:154243000-154251400	Weak transcription	Psoas Muscle	Psoas
37	chr5:154243200-154248200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:154243200-154248600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:154243200-154256400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:154243200-154257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:154243200-154257200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr5:154243200-154257200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:154243200-154257600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr5:154243400-154248000	Strong transcription	Adipose Nuclei	Adipose
45	chr5:154243400-154248200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:154243400-154256800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:154243400-154257000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:154243400-154257200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:154243600-154248200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:154243600-154257200	Strong transcription	Primary monocytes fromperipheralblood	blood

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