Variant report

Variant	rs72720345
Chromosome Location	chr8:131011495-131011496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131008248..131015000-chr8:131026148..131029127,9	K562	blood:
2	chr8:131011363..131013823-chr8:131017566..131020563,3	MCF-7	breast:
3	chr8:131010470..131015100-chr8:131019285..131023448,5	K562	blood:
4	chr8:131006962..131012860-chr8:131027231..131029958,8	MCF-7	breast:
5	chr8:131009438..131012351-chr8:131027443..131029854,5	MCF-7	breast:
6	chr8:131010009..131012187-chr8:131014234..131016988,4	MCF-7	breast:
7	chr8:131007021..131009238-chr8:131011453..131013766,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction
ENSG00000253043	Chromatin interaction
ENSG00000264653	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1349847	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520393	1.00[ASN][1000 genomes]
rs55878330	1.00[ASN][1000 genomes]
rs66523355	1.00[ASN][1000 genomes]
rs7016402	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720325	1.00[ASN][1000 genomes]
rs72720337	1.00[ASN][1000 genomes]
rs72720346	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720350	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720351	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720353	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720360	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720361	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720362	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720365	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' 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	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130996600-131017400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:130996800-131011600	Weak transcription	Left Ventricle	heart
3	chr8:130998400-131017400	Weak transcription	Fetal Intestine Large	intestine
4	chr8:131001800-131012000	Weak transcription	GM12878-XiMat	blood
5	chr8:131003600-131012000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:131004600-131013400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:131005800-131013600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:131006000-131016200	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr8:131006200-131011600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr8:131006200-131012000	Enhancers	Brain Hippocampus Middle	brain
11	chr8:131006200-131012400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:131006200-131012600	Enhancers	Adipose Nuclei	Adipose
13	chr8:131006200-131012600	Enhancers	Brain Substantia Nigra	brain
14	chr8:131006200-131013800	Enhancers	HMEC	breast
15	chr8:131006400-131011600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:131006400-131012200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:131006400-131013000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:131006400-131013600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:131006600-131012200	Enhancers	Placenta	Placenta
20	chr8:131006600-131012400	Enhancers	Brain Angular Gyrus	brain
21	chr8:131006600-131012600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr8:131006800-131012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:131006800-131012800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:131007000-131012400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:131007000-131012800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:131007000-131012800	Enhancers	Hela-S3	cervix
27	chr8:131007200-131012600	Enhancers	NHDF-Ad	bronchial
28	chr8:131007200-131013000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:131007800-131012800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:131007800-131012800	Enhancers	NH-A	brain
31	chr8:131007800-131014800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr8:131008200-131012200	Genic enhancers	Primary B cells from cord blood	blood
33	chr8:131008200-131015600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:131008400-131011600	Enhancers	K562	blood
35	chr8:131008400-131011800	Enhancers	Fetal Muscle Leg	muscle
36	chr8:131008400-131012800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:131008400-131013600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr8:131008400-131020600	Weak transcription	Psoas Muscle	Psoas
39	chr8:131008600-131011600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:131008600-131011600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:131008600-131011800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:131008600-131012200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:131008600-131012200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:131008600-131012600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:131008600-131012800	Enhancers	Fetal Brain Male	brain
46	chr8:131008800-131015600	Weak transcription	Pancreas	Pancrea
47	chr8:131009000-131011800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:131009000-131012600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:131009000-131013200	Weak transcription	Thymus	Thymus
50	chr8:131009000-131013400	Enhancers	NHEK	skin

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