Variant report

Variant	rs72724412
Chromosome Location	chr8:131270062-131270063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131263978..131265844-chr8:131269482..131272106,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11774346	0.93[AMR][1000 genomes]
rs11774686	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11775172	0.93[AMR][1000 genomes]
rs11775309	0.87[AMR][1000 genomes]
rs11775609	0.93[AMR][1000 genomes]
rs11776262	0.82[AMR][1000 genomes]
rs11776732	0.81[AMR][1000 genomes]
rs11776768	0.81[AMR][1000 genomes]
rs11777289	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11777909	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11778072	0.93[AMR][1000 genomes]
rs11778368	0.81[AMR][1000 genomes]
rs11778504	0.93[AMR][1000 genomes]
rs11778593	0.93[AMR][1000 genomes]
rs11778712	0.93[AMR][1000 genomes]
rs11778881	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11781211	0.93[AMR][1000 genomes]
rs11781912	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11783764	0.93[AMR][1000 genomes]
rs11784477	0.93[AMR][1000 genomes]
rs11784842	0.93[AMR][1000 genomes]
rs11784988	0.82[AMR][1000 genomes]
rs11785125	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11785172	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11785286	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11785806	0.82[AMR][1000 genomes]
rs11786205	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56162445	0.87[AMR][1000 genomes]
rs56350423	0.81[AMR][1000 genomes]
rs57315235	0.82[AMR][1000 genomes]
rs6981708	0.81[AMR][1000 genomes]
rs6981861	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982030	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6991549	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6992270	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7006802	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722360	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722361	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722363	0.84[EUR][1000 genomes]
rs72722368	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722370	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722372	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722374	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722375	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722379	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722380	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722381	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72722384	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722386	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72722388	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722392	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722393	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722394	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722396	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722397	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722399	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724403	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724407	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724414	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724419	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724421	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724423	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724426	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72724437	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724446	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724447	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724449	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724450	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724451	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724452	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72724453	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724454	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724455	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72724460	0.93[AMR][1000 genomes]
rs72724461	0.93[AMR][1000 genomes]
rs72724473	0.93[AMR][1000 genomes]
rs72724487	0.93[AMR][1000 genomes]
rs72724490	0.82[AMR][1000 genomes]
rs72724502	0.93[AMR][1000 genomes]
rs72726203	0.93[AMR][1000 genomes]
rs72726204	0.87[AMR][1000 genomes]
rs72726205	0.87[AMR][1000 genomes]
rs72726216	0.87[AMR][1000 genomes]
rs72726217	0.87[AMR][1000 genomes]
rs72726220	0.83[AMR][1000 genomes]
rs72726223	0.87[AMR][1000 genomes]
rs72726225	0.87[AMR][1000 genomes]
rs72726226	0.81[AMR][1000 genomes]
rs72726227	0.81[AMR][1000 genomes]
rs72726229	0.81[AMR][1000 genomes]
rs72726231	0.81[AMR][1000 genomes]
rs72726232	0.81[AMR][1000 genomes]
rs72726234	0.81[AMR][1000 genomes]
rs72726236	0.81[AMR][1000 genomes]
rs7826256	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836273	0.93[AMR][1000 genomes]
rs929990	0.93[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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
2	chr8:131250800-131270600	Weak transcription	NH-A	brain
3	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
5	chr8:131257400-131270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:131257400-131281600	Weak transcription	Gastric	stomach
7	chr8:131258000-131275400	Weak transcription	Stomach Mucosa	stomach
8	chr8:131260000-131275200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:131260600-131271600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:131260800-131270200	Weak transcription	Right Ventricle	heart
11	chr8:131260800-131272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:131261200-131274400	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:131261400-131271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:131261400-131275800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:131261600-131270400	Weak transcription	Spleen	Spleen
16	chr8:131261600-131270400	Weak transcription	NHEK	skin
17	chr8:131261600-131275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:131261800-131276000	Weak transcription	K562	blood
19	chr8:131262000-131271600	Weak transcription	Primary B cells from cord blood	blood
20	chr8:131262200-131270800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:131262200-131276200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:131262400-131270400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:131262800-131271400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:131263000-131275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:131263000-131276000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:131263200-131270600	Weak transcription	GM12878-XiMat	blood
27	chr8:131263800-131270800	Weak transcription	Brain Germinal Matrix	brain
28	chr8:131264400-131276200	Weak transcription	Fetal Heart	heart
29	chr8:131264800-131271400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:131265400-131270400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:131265600-131270400	Weak transcription	HSMM	muscle
32	chr8:131265600-131270600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:131265600-131270600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr8:131265600-131271000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr8:131265600-131271000	Weak transcription	HMEC	breast
36	chr8:131266000-131270400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:131266400-131270400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:131266400-131270400	Weak transcription	Small Intestine	intestine
39	chr8:131266400-131271400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:131266800-131270600	Enhancers	Liver	Liver
41	chr8:131267000-131270600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:131267000-131272200	Enhancers	HepG2	liver
43	chr8:131267400-131270400	Weak transcription	HUVEC	blood vessel
44	chr8:131267600-131275800	Weak transcription	Primary T cells from cord blood	blood
45	chr8:131267800-131271000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:131268200-131270800	Weak transcription	Adipose Nuclei	Adipose
47	chr8:131268400-131270200	Weak transcription	NHDF-Ad	bronchial
48	chr8:131268400-131270400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:131268400-131270400	Weak transcription	Brain Angular Gyrus	brain
50	chr8:131268400-131270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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