Variant report

Variant	rs72724421
Chromosome Location	chr8:131283678-131283679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131276192..131278199-chr8:131282560..131285411,2	MCF-7	breast:
2	chr8:131281505..131283976-chr8:131286919..131289472,2	K562	blood:
3	chr8:131283513..131285775-chr8:131309239..131311287,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs11774131	1.00[AFR][1000 genomes]
rs11774346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11774686	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11776262	0.88[AMR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11776863	1.00[AFR][1000 genomes]
rs11777289	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11777909	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778454	1.00[AFR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11779191	1.00[AFR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11781851	1.00[AFR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11782152	1.00[AFR][1000 genomes]
rs11782883	1.00[AFR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11783860	1.00[AFR][1000 genomes]
rs11783940	1.00[AFR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11784988	0.88[AMR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11785806	0.88[AMR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11787251	1.00[AFR][1000 genomes]
rs4319146	1.00[AFR][1000 genomes]
rs4639572	1.00[AFR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57315235	0.88[AMR][1000 genomes]
rs6981708	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989965	1.00[AFR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7003568	1.00[AFR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722310	1.00[AFR][1000 genomes]
rs72722316	1.00[AFR][1000 genomes]
rs72722318	1.00[AFR][1000 genomes]
rs72722323	1.00[AFR][1000 genomes]
rs72722325	1.00[AFR][1000 genomes]
rs72722339	1.00[AFR][1000 genomes]
rs72722344	1.00[AFR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722363	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722393	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724412	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724490	0.88[AMR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726240	0.81[AMR][1000 genomes]
rs72726241	0.87[AMR][1000 genomes]
rs72726244	0.87[AMR][1000 genomes]
rs752716	1.00[AFR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131270600-131291200	Weak transcription	Liver	Liver
4	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
5	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
7	chr8:131277000-131288200	Weak transcription	K562	blood
8	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
9	chr8:131278000-131288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:131278200-131288800	Weak transcription	Esophagus	oesophagus
11	chr8:131278400-131289200	Weak transcription	Fetal Thymus	thymus
12	chr8:131278600-131289000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:131278600-131289200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:131279600-131284000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:131280400-131283800	Enhancers	NHLF	lung
16	chr8:131280600-131286200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:131280600-131286400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:131280800-131284000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:131281400-131283800	Enhancers	HUVEC	blood vessel
20	chr8:131281600-131287400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:131281800-131283800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:131281800-131286200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:131281800-131287600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:131281800-131288800	Weak transcription	GM12878-XiMat	blood
25	chr8:131282000-131286400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:131282000-131286400	Weak transcription	NHDF-Ad	bronchial
27	chr8:131282000-131286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:131282000-131286800	Weak transcription	Primary T cells from cord blood	blood
29	chr8:131282000-131287200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:131282000-131288200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:131282000-131288600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:131282000-131288600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:131282000-131288600	Weak transcription	Brain Angular Gyrus	brain
34	chr8:131282000-131288600	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:131282000-131288600	Weak transcription	Fetal Lung	lung
36	chr8:131282000-131289200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:131282000-131291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:131282000-131292200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:131282000-131292200	Weak transcription	HSMMtube	muscle
40	chr8:131282000-131298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:131282200-131285600	Weak transcription	Ovary	ovary
42	chr8:131282200-131286400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:131282200-131286600	Weak transcription	HSMM	muscle
44	chr8:131282200-131287200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:131282200-131288800	Weak transcription	Osteobl	bone
46	chr8:131282200-131289800	Weak transcription	HepG2	liver
47	chr8:131282200-131291000	Weak transcription	Small Intestine	intestine
48	chr8:131282400-131285600	Weak transcription	Spleen	Spleen
49	chr8:131282400-131286000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:131282400-131286800	Weak transcription	Brain Substantia Nigra	brain

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