Variant report

Variant	rs575688388
Chromosome Location	chr8:103665763-103665764
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103594676..103598012-chr8:103663554..103666126,3	K562	blood:
2	chr8:103421691..103424111-chr8:103663160..103665928,2	K562	blood:
3	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
4	chr8:103665043..103667902-chr8:104032502..104034925,2	K562	blood:
5	chr8:103647192..103649158-chr8:103663461..103665768,2	K562	blood:
6	chr8:103665446..103666548-chr8:103822796..103823768,4	MCF-7	breast:
7	chr8:103420666..103426323-chr8:103664417..103668286,11	K562	blood:
8	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
9	chr8:103251457..103253123-chr8:103664713..103667608,2	K562	blood:
10	chr8:103665539..103666371-chr8:103798347..103799288,2	MCF-7	breast:
11	chr8:103570250..103572915-chr8:103665541..103668437,2	MCF-7	breast:
12	chr8:103665570..103666349-chr8:103822679..103823550,2	MCF-7	breast:
13	chr8:103665305..103666010-chr8:103818640..103819590,2	MCF-7	breast:
14	chr8:103665615..103668454-chr9:19407713..19410281,2	MCF-7	breast:
15	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
16	chr8:103251275..103253446-chr8:103664809..103667608,3	K562	blood:
17	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
18	chr8:103664643..103666146-chr8:103754646..103756274,2	K562	blood:
19	chr8:103423355..103425914-chr8:103664541..103666736,4	MCF-7	breast:
20	chr8:103664622..103666232-chr8:103692078..103693686,2	K562	blood:
21	chr8:103665763..103666536-chr8:103820129..103820844,3	MCF-7	breast:
22	chr8:103422740..103426162-chr8:103661845..103666384,4	MCF-7	breast:
23	chr8:103663808..103666386-chr8:103714227..103715917,2	K562	blood:
24	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177076	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000155087	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000155097	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3409107	chr8:103665226-103668974	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
4	esv3373038	chr8:103665601-103668149	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	57 gene(s)	inside rSNPs	diseases
5	esv3387688	chr8:103665726-103668424	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103662800-103665800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr8:103663400-103665800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:103663400-103666000	Transcr. at gene 5' and 3'	A549	lung
4	chr8:103663400-103666000	Transcr. at gene 5' and 3'	HSMM	muscle
5	chr8:103664000-103665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:103664000-103665800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr8:103664000-103667200	Active TSS	Fetal Brain Female	brain
8	chr8:103664000-103669600	Active TSS	Psoas Muscle	Psoas
9	chr8:103664200-103665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:103664200-103665800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:103664200-103665800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:103664200-103665800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:103664200-103665800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:103664200-103665800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:103664200-103665800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:103664200-103665800	Weak transcription	Brain Substantia Nigra	brain
17	chr8:103664200-103665800	Weak transcription	Esophagus	oesophagus
18	chr8:103664200-103665800	Weak transcription	Gastric	stomach
19	chr8:103664200-103665800	Weak transcription	Left Ventricle	heart
20	chr8:103664200-103665800	Weak transcription	Ovary	ovary
21	chr8:103664200-103665800	Weak transcription	Pancreas	Pancrea
22	chr8:103664200-103665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:103664200-103665800	Weak transcription	Small Intestine	intestine
24	chr8:103664200-103666000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr8:103664200-103666600	Weak transcription	Lung	lung
26	chr8:103664200-103666600	Weak transcription	Spleen	Spleen
27	chr8:103664200-103669200	Active TSS	HSMMtube	muscle
28	chr8:103664200-103670000	Active TSS	Right Atrium	heart
29	chr8:103664400-103665800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:103664400-103665800	Transcr. at gene 5' and 3'	NH-A	brain
31	chr8:103664400-103666000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr8:103664400-103666000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:103664400-103666000	Flanking Active TSS	HUVEC	blood vessel
34	chr8:103664400-103668800	Active TSS	Right Ventricle	heart
35	chr8:103664600-103666000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:103664600-103667000	Active TSS	Brain Germinal Matrix	brain
37	chr8:103664600-103668600	Active TSS	Stomach Smooth Muscle	stomach
38	chr8:103664800-103665800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:103664800-103665800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr8:103664800-103665800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:103664800-103665800	Flanking Active TSS	Hela-S3	cervix
42	chr8:103664800-103669800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:103665000-103665800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:103665000-103665800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr8:103665000-103665800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:103665000-103666000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr8:103665000-103666000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:103665000-103666800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:103665000-103667200	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr8:103665000-103667600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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