Variant report

Variant	rs563334339
Chromosome Location	chr8:131371376-131371377
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131371033..131372653-chr8:131376514..131378216,2	MCF-7	breast:
2	chr8:131370636..131372390-chr8:131374796..131377434,2	K562	blood:
3	chr8:131340477..131342836-chr8:131369281..131371407,2	K562	blood:
4	chr8:131276737..131278356-chr8:131369594..131371515,3	MCF-7	breast:
5	chr8:131340477..131343144-chr8:131369207..131371407,2	K562	blood:
6	chr8:131359135..131361082-chr8:131369216..131371676,2	MCF-7	breast:
7	chr8:131370668..131373008-chr8:131383412..131385396,2	K562	blood:
8	chr8:131370791..131374454-chr8:131375102..131378755,4	MCF-7	breast:
9	chr8:131352326..131356339-chr8:131369333..131373155,5	K562	blood:
10	chr8:131369806..131373851-chr8:131400186..131403048,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
5	esv3324422	chr8:131369595-131372143	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3344755	chr8:131369820-131371918	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv612289	chr8:131370231-131373653	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1799913	chr8:131370231-131377219	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1803345	chr8:131370231-131377219	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv612290	chr8:131370231-131381098	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 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	chr8:131367200-131371400	Active TSS	HSMMtube	muscle
2	chr8:131367800-131371600	Active TSS	HSMM	muscle
3	chr8:131368400-131371600	Active TSS	Ovary	ovary
4	chr8:131368600-131371600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:131369000-131371400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:131369000-131371600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:131369200-131371400	Active TSS	Left Ventricle	heart
8	chr8:131369200-131371400	Active TSS	Placenta Amnion	Placenta Amnion
9	chr8:131369200-131371600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:131369400-131371400	Active TSS	Aorta	Aorta
11	chr8:131369400-131371400	Active TSS	Brain Angular Gyrus	brain
12	chr8:131369400-131371400	Active TSS	Brain Germinal Matrix	brain
13	chr8:131369400-131371400	Active TSS	Brain Substantia Nigra	brain
14	chr8:131369400-131371600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr8:131369400-131371800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:131369400-131371800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:131369600-131371400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:131369600-131371400	Active TSS	Fetal Intestine Large	intestine
19	chr8:131369600-131371600	Active TSS	Colon Smooth Muscle	Colon
20	chr8:131369600-131371600	Active TSS	Right Atrium	heart
21	chr8:131369600-131371600	Active TSS	Right Ventricle	heart
22	chr8:131369600-131371600	Active TSS	Osteobl	bone
23	chr8:131369600-131371800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:131369600-131371800	Active TSS	Fetal Kidney	kidney
25	chr8:131369800-131371400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:131369800-131371400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:131369800-131371400	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr8:131369800-131371400	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr8:131369800-131371400	Active TSS	Brain Anterior Caudate	brain
30	chr8:131369800-131371400	Active TSS	Brain Hippocampus Middle	brain
31	chr8:131369800-131371400	Active TSS	Small Intestine	intestine
32	chr8:131369800-131371600	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr8:131370000-131371400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:131370000-131371400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:131370000-131371400	Active TSS	Primary T cells from cord blood	blood
36	chr8:131370000-131371400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr8:131370000-131371400	Active TSS	Fetal Intestine Small	intestine
38	chr8:131370000-131371400	Active TSS	Fetal Lung	lung
39	chr8:131370000-131371400	Active TSS	Fetal Stomach	stomach
40	chr8:131370000-131371400	Active TSS	Gastric	stomach
41	chr8:131370000-131371400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr8:131370000-131371400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr8:131370000-131371400	Active TSS	GM12878-XiMat	blood
44	chr8:131370000-131371400	Active TSS	K562	blood
45	chr8:131370000-131371600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr8:131370000-131371600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:131370000-131371600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:131370000-131371600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:131370000-131371600	Active TSS	Psoas Muscle	Psoas
50	chr8:131370000-131371800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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