Variant report

Variant	rs72724440
Chromosome Location	chr8:131338642-131338643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131335598..131338253-chr8:131338429..131341406,2	MCF-7	breast:
2	chr8:131325774..131327833-chr8:131336321..131339218,2	K562	blood:
3	chr8:131332115..131335468-chr8:131338120..131341741,4	MCF-7	breast:
4	chr8:131336690..131338851-chr8:131341065..131343497,2	K562	blood:
5	chr8:131318340..131321278-chr8:131336360..131338722,2	MCF-7	breast:
6	chr8:131338191..131341349-chr8:131343744..131346974,4	K562	blood:
7	chr8:131336874..131339691-chr8:131343974..131346537,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72722353	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72724429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:131315600-131353400	Weak transcription	Dnd41	blood
3	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
8	chr8:131331000-131342400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:131331200-131340400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:131331800-131339600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:131331800-131340000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:131332000-131340800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:131332600-131341200	Weak transcription	Fetal Stomach	stomach
14	chr8:131332600-131341400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:131332600-131342600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:131332600-131344800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131332800-131339200	Weak transcription	Lung	lung
18	chr8:131332800-131339400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:131332800-131339800	Weak transcription	GM12878-XiMat	blood
20	chr8:131333000-131339200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:131333200-131339600	Enhancers	Brain Anterior Caudate	brain
22	chr8:131333200-131344200	Enhancers	NHDF-Ad	bronchial
23	chr8:131333400-131343000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:131333800-131339200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:131334600-131339800	Enhancers	Fetal Thymus	thymus
26	chr8:131334800-131339400	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:131334800-131346600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:131335000-131338800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:131335000-131339000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:131335200-131339800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:131335200-131339800	Enhancers	Osteobl	bone
32	chr8:131335200-131347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:131335400-131339800	Enhancers	NHLF	lung
34	chr8:131335400-131344200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:131335600-131339400	Weak transcription	Pancreas	Pancrea
36	chr8:131335600-131342200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:131335600-131343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:131335800-131339600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr8:131335800-131339800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:131336000-131339000	Weak transcription	Fetal Brain Male	brain
41	chr8:131336000-131340600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:131336000-131350200	Weak transcription	Fetal Brain Female	brain
43	chr8:131336200-131340800	Enhancers	Fetal Heart	heart
44	chr8:131336200-131347800	Weak transcription	Liver	Liver
45	chr8:131336400-131342000	Weak transcription	Brain Germinal Matrix	brain
46	chr8:131336600-131339200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:131336600-131346600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:131336800-131339000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:131336800-131341200	Weak transcription	Stomach Mucosa	stomach
50	chr8:131336800-131344200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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