Variant report

Variant	rs72709423
Chromosome Location	chr1:179028446-179028447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:178993725..178998652-chr1:179027770..179032614,10	K562	blood:
2	chr1:178994312..178995957-chr1:179027048..179028801,2	K562	blood:
3	chr1:179014819..179016525-chr1:179025802..179028467,2	K562	blood:
4	chr1:178989917..178991482-chr1:179028410..179031384,2	K562	blood:
5	chr1:179000508..179002308-chr1:179026849..179029131,2	K562	blood:
6	chr1:179025693..179027677-chr1:179027840..179029959,2	MCF-7	breast:
7	chr1:179018870..179021962-chr1:179024991..179028593,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116199	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs16853590	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16853612	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2018786	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2147769	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3766623	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766625	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766629	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3766630	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3766635	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813639	0.82[AMR][1000 genomes]
rs55669440	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55699757	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55854504	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55974004	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56006430	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56032836	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56173043	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56209812	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56999658	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57601259	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58939863	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72707280	0.94[EUR][1000 genomes]
rs72707281	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72707282	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72707287	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72707288	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72707292	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72707293	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72707294	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72707296	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72709419	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72709424	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72709441	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72709445	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7527432	0.83[EUR][1000 genomes]
rs9249	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179006400-179032400	Weak transcription	Esophagus	oesophagus
2	chr1:179008000-179033000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:179008400-179033000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:179008400-179041000	Weak transcription	Small Intestine	intestine
5	chr1:179008600-179033000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:179008600-179035000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:179008600-179049800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:179008600-179049800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:179009400-179033000	Weak transcription	Gastric	stomach
10	chr1:179009600-179050400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:179012200-179033000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:179013200-179032600	Weak transcription	GM12878-XiMat	blood
13	chr1:179013400-179030200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:179013400-179030400	Weak transcription	Fetal Stomach	stomach
15	chr1:179013400-179033200	Weak transcription	Thymus	Thymus
16	chr1:179016600-179032600	Weak transcription	Aorta	Aorta
17	chr1:179016800-179030400	Weak transcription	Psoas Muscle	Psoas
18	chr1:179016800-179033000	Weak transcription	Spleen	Spleen
19	chr1:179016800-179033200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:179017000-179033200	Weak transcription	Right Ventricle	heart
21	chr1:179017200-179029800	Weak transcription	HepG2	liver
22	chr1:179018000-179033000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:179018800-179032800	Weak transcription	Brain Germinal Matrix	brain
24	chr1:179019800-179033200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:179021000-179032400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:179022800-179031400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:179022800-179033000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:179022800-179033000	Weak transcription	Brain Anterior Caudate	brain
29	chr1:179023000-179033400	Weak transcription	Stomach Mucosa	stomach
30	chr1:179024600-179033200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:179025000-179033000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:179025000-179050200	Weak transcription	HUVEC	blood vessel
33	chr1:179025400-179033000	Weak transcription	Brain Substantia Nigra	brain
34	chr1:179025400-179033200	Weak transcription	Left Ventricle	heart
35	chr1:179025400-179050600	Weak transcription	Fetal Brain Male	brain
36	chr1:179025600-179050000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:179025600-179050400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:179025800-179032600	Weak transcription	Ovary	ovary
39	chr1:179025800-179032800	Weak transcription	Placenta	Placenta
40	chr1:179025800-179033000	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:179025800-179033000	Weak transcription	Fetal Thymus	thymus
42	chr1:179025800-179050200	Weak transcription	Fetal Heart	heart
43	chr1:179026000-179029400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:179026000-179030600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:179026000-179032000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:179026000-179032600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:179026000-179033000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:179026000-179033000	Weak transcription	Liver	Liver
49	chr1:179026000-179033000	Weak transcription	Fetal Brain Female	brain
50	chr1:179026000-179033200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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