Variant report

Variant	rs72724419
Chromosome Location	chr8:131278603-131278604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131277435..131279896-chr8:131293652..131295449,2	K562	blood:
2	chr8:131276972..131278899-chr8:131290636..131293294,2	K562	blood:
3	chr8:131278240..131280307-chr8:131313127..131315525,2	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]
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]
rs72722303	1.00[AFR][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]
rs72724421	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131257400-131281600	Weak transcription	Gastric	stomach
3	chr8:131268400-131281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
5	chr8:131268800-131281000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:131268800-131281400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:131269400-131280000	Weak transcription	Fetal Lung	lung
8	chr8:131270600-131283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:131270600-131291200	Weak transcription	Liver	Liver
10	chr8:131270800-131278800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:131271000-131279000	Enhancers	HMEC	breast
12	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
13	chr8:131272400-131281400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:131275400-131280600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:131275400-131281000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:131275400-131283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:131275600-131280400	Enhancers	HUVEC	blood vessel
18	chr8:131275600-131281200	Enhancers	Osteobl	bone
19	chr8:131275600-131281400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
21	chr8:131275800-131279000	Enhancers	Primary T cells from cord blood	blood
22	chr8:131275800-131281200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:131276000-131278800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:131276400-131281200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:131276400-131281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:131276600-131279400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:131276600-131280200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:131276800-131279600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:131276800-131279600	Enhancers	NH-A	brain
30	chr8:131276800-131280000	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:131276800-131280000	Weak transcription	Ovary	ovary
32	chr8:131276800-131280000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:131276800-131280200	Weak transcription	Brain Angular Gyrus	brain
34	chr8:131276800-131280200	Enhancers	NHEK	skin
35	chr8:131276800-131282000	Enhancers	NHDF-Ad	bronchial
36	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
37	chr8:131277000-131279200	Genic enhancers	HSMM	muscle
38	chr8:131277000-131281000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:131277000-131281000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:131277000-131281200	Weak transcription	Fetal Kidney	kidney
41	chr8:131277000-131281400	Weak transcription	Aorta	Aorta
42	chr8:131277000-131282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:131277000-131288200	Weak transcription	K562	blood
44	chr8:131277200-131280000	Weak transcription	Brain Substantia Nigra	brain
45	chr8:131277200-131280000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:131277200-131280600	Weak transcription	Fetal Heart	heart
47	chr8:131277200-131280800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:131277400-131279600	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:131277400-131280600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr8:131277400-131281000	Weak transcription	Brain Cingulate Gyrus	brain

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