Variant report

Variant	rs72722303
Chromosome Location	chr8:131078287-131078288
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	chr8:131076898..131078962-chr8:131090903..131093353,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10106205	1.00[EUR][1000 genomes]
rs11774067	1.00[AFR][1000 genomes]
rs11774131	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11774686	1.00[AFR][1000 genomes]
rs11774834	1.00[AFR][1000 genomes]
rs11774917	1.00[AFR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes]
rs11775966	1.00[AFR][1000 genomes]
rs11776863	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11778252	1.00[AFR][1000 genomes]
rs11778454	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11778460	1.00[AFR][1000 genomes]
rs11779191	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11781272	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11781294	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11781851	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes]
rs11782152	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11782883	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11783071	1.00[AFR][1000 genomes]
rs11783860	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11783940	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes]
rs11787251	1.00[AFR][1000 genomes]
rs11787505	1.00[AFR][1000 genomes]
rs28380096	0.89[EUR][1000 genomes]
rs28759724	1.00[EUR][1000 genomes]
rs4319146	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4639572	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6989965	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes]
rs7003568	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes]
rs7008180	0.90[EUR][1000 genomes]
rs72720387	1.00[AFR][1000 genomes]
rs72720390	1.00[AFR][1000 genomes]
rs72722310	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72722316	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722318	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72722323	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72722325	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722339	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72722344	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes]
rs72722380	1.00[AFR][1000 genomes]
rs72722381	1.00[AFR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes]
rs752716	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes]
rs929990	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	esv1799633	chr8:131039142-131078918	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1851852	chr8:131039142-131078918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
13	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:131063600-131082800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131066400-131098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:131066600-131078400	Strong transcription	Brain Germinal Matrix	brain
7	chr8:131066800-131082800	Strong transcription	Fetal Stomach	stomach
8	chr8:131068800-131095400	Weak transcription	Fetal Kidney	kidney
9	chr8:131070200-131086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:131070400-131089600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:131070400-131090800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:131070400-131101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:131070600-131095800	Weak transcription	Colonic Mucosa	Colon
14	chr8:131073000-131087000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:131073200-131079000	Enhancers	Fetal Thymus	thymus
16	chr8:131073200-131085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:131073200-131086000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:131073200-131087200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:131073200-131087200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:131073400-131082800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:131073400-131086800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:131073400-131087000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:131073600-131084800	Weak transcription	Ovary	ovary
24	chr8:131073600-131086600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:131074000-131078400	Enhancers	Thymus	Thymus
26	chr8:131074200-131082800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:131074200-131082800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:131074400-131080800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:131074600-131080000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:131074600-131080400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr8:131074800-131079200	Weak transcription	HepG2	liver
32	chr8:131074800-131080400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:131074800-131085800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:131075000-131079800	Genic enhancers	HSMM	muscle
35	chr8:131075000-131080400	Weak transcription	Fetal Brain Male	brain
36	chr8:131075000-131081000	Strong transcription	Fetal Intestine Large	intestine
37	chr8:131075000-131087400	Weak transcription	Brain Angular Gyrus	brain
38	chr8:131075000-131106800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:131075200-131081600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:131075200-131081800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:131075200-131085200	Weak transcription	Aorta	Aorta
42	chr8:131075200-131085600	Weak transcription	Brain Anterior Caudate	brain
43	chr8:131075200-131085600	Weak transcription	Pancreas	Pancrea
44	chr8:131075200-131085600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:131075200-131086800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:131075400-131080200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:131075400-131081000	Genic enhancers	NHEK	skin
48	chr8:131075600-131078400	Strong transcription	Lung	lung
49	chr8:131075600-131078800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:131075600-131080000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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