Variant report

Variant	rs72720304
Chromosome Location	chr8:130990285-130990286
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130973287..130976149-chr8:130988639..130991439,2	MCF-7	breast:
2	chr8:130987235..130990502-chr8:131006341..131009239,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10088317	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092658	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111220	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112738	1.00[ASN][1000 genomes]
rs10481174	1.00[ASN][1000 genomes]
rs1349847	1.00[AFR][1000 genomes]
rs16904182	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904183	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17194407	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194571	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194770	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17279655	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411256	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28682439	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016402	1.00[AFR][1000 genomes]
rs72718397	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720325	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72720346	1.00[AFR][1000 genomes]
rs72720350	1.00[AFR][1000 genomes]
rs72720351	1.00[AFR][1000 genomes]
rs72720353	1.00[AFR][1000 genomes]
rs7812685	1.00[ASN][1000 genomes]
rs7817091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825122	1.00[ASN][1000 genomes]
rs7837729	1.00[EUR][1000 genomes];1.00[ASN][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	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	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130975800-130994000	Weak transcription	Pancreas	Pancrea
2	chr8:130981600-130995800	Weak transcription	Fetal Intestine Small	intestine
3	chr8:130984800-130990800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:130985000-130992000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:130985000-130995800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:130985000-130995800	Weak transcription	Left Ventricle	heart
7	chr8:130985000-130995800	Weak transcription	Right Atrium	heart
8	chr8:130985200-130991200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr8:130985200-130993400	Weak transcription	HMEC	breast
10	chr8:130985200-130996000	Weak transcription	Stomach Mucosa	stomach
11	chr8:130985600-130995800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:130985600-130995800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:130985800-130994000	Weak transcription	NHEK	skin
14	chr8:130986000-130995800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:130986000-130996200	Weak transcription	Hela-S3	cervix
16	chr8:130986200-131003600	Weak transcription	Thymus	Thymus
17	chr8:130986400-130994000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:130986400-130994000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:130986400-130994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:130986400-130994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:130986400-130995800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:130986400-130995800	Weak transcription	Brain Substantia Nigra	brain
23	chr8:130986400-130995800	Weak transcription	Gastric	stomach
24	chr8:130986400-130995800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:130986400-130998400	Weak transcription	Fetal Thymus	thymus
26	chr8:130986600-130993800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:130986600-130993800	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:130986600-130996400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:130987400-130998200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:130988000-130996400	Weak transcription	K562	blood
31	chr8:130988200-130990400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr8:130988200-130990600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:130988200-130995600	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:130988200-130996200	Weak transcription	Primary B cells from cord blood	blood
35	chr8:130988200-130996200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:130988200-130997400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:130988400-130994200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:130988400-130996800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:130989000-130990600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:130989000-130993600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:130989000-130994800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:130989200-130990600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:130989200-130994600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr8:130989200-131000000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:130989600-130990400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:130989600-130991400	Weak transcription	Primary T cells from cord blood	blood
47	chr8:130989600-130994000	Weak transcription	A549	lung
48	chr8:130989600-130994800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:130989600-130994800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:130990200-130990400	Enhancers	Primary neutrophils fromperipheralblood	blood

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