Variant report

Variant	rs547050885
Chromosome Location	chr8:131370501-131370502
allele	C/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131340477..131342836-chr8:131369281..131371407,2	K562	blood:
2	chr8:131273772..131275744-chr8:131368224..131371036,2	MCF-7	breast:
3	chr8:131367705..131370719-chr8:131454770..131456809,3	MCF-7	breast:
4	chr8:131342449..131344196-chr8:131369562..131371312,2	MCF-7	breast:
5	chr8:131308649..131310819-chr8:131367686..131370906,3	MCF-7	breast:
6	chr8:131276737..131278356-chr8:131369594..131371515,3	MCF-7	breast:
7	chr8:131340477..131343144-chr8:131369207..131371407,2	K562	blood:
8	chr8:131328726..131330955-chr8:131369323..131371352,2	MCF-7	breast:
9	chr16:7701119..7701719-chr8:131369650..131370650,2	MCF-7	breast:
10	chr8:131364073..131367147-chr8:131368498..131370803,3	MCF-7	breast:
11	chr8:131359135..131361082-chr8:131369216..131371676,2	MCF-7	breast:
12	chr8:131368827..131370582-chr8:131514661..131517339,2	MCF-7	breast:
13	chr8:131352326..131356339-chr8:131369333..131373155,5	K562	blood:
14	chr8:131369806..131373851-chr8:131400186..131403048,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv612285	chr8:131367481-131371055	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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
8	esv11307	chr8:131370202-131371248	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612286	chr8:131370231-131370934	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv612287	chr8:131370231-131371106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv612288	chr8:131370231-131371143	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	nsv612291	chr8:131370284-131370934	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv612292	chr8:131370284-131371055	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv612293	chr8:131370386-131371106	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	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	chr8:131368200-131370600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr8:131368400-131371600	Active TSS	Ovary	ovary
5	chr8:131368600-131371600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:131368800-131370600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:131368800-131371200	Active TSS	NHDF-Ad	bronchial
8	chr8:131369000-131371400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:131369000-131371600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:131369200-131371400	Active TSS	Left Ventricle	heart
11	chr8:131369200-131371400	Active TSS	Placenta Amnion	Placenta Amnion
12	chr8:131369200-131371600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr8:131369400-131371200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:131369400-131371200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:131369400-131371200	Active TSS	Fetal Brain Female	brain
16	chr8:131369400-131371400	Active TSS	Aorta	Aorta
17	chr8:131369400-131371400	Active TSS	Brain Angular Gyrus	brain
18	chr8:131369400-131371400	Active TSS	Brain Germinal Matrix	brain
19	chr8:131369400-131371400	Active TSS	Brain Substantia Nigra	brain
20	chr8:131369400-131371600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:131369400-131371800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:131369400-131371800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:131369600-131371200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:131369600-131371200	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr8:131369600-131371200	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr8:131369600-131371200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:131369600-131371200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:131369600-131371400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr8:131369600-131371400	Active TSS	Fetal Intestine Large	intestine
30	chr8:131369600-131371600	Active TSS	Colon Smooth Muscle	Colon
31	chr8:131369600-131371600	Active TSS	Right Atrium	heart
32	chr8:131369600-131371600	Active TSS	Right Ventricle	heart
33	chr8:131369600-131371600	Active TSS	Osteobl	bone
34	chr8:131369600-131371800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:131369600-131371800	Active TSS	Fetal Kidney	kidney
36	chr8:131369800-131371200	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr8:131369800-131371200	Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr8:131369800-131371200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:131369800-131371200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:131369800-131371200	Active TSS	Brain Cingulate Gyrus	brain
41	chr8:131369800-131371400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:131369800-131371400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:131369800-131371400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr8:131369800-131371400	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr8:131369800-131371400	Active TSS	Brain Anterior Caudate	brain
46	chr8:131369800-131371400	Active TSS	Brain Hippocampus Middle	brain
47	chr8:131369800-131371400	Active TSS	Small Intestine	intestine
48	chr8:131369800-131371600	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr8:131370000-131371200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:131370000-131371200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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