Variant report

Variant	rs531264826
Chromosome Location	chr8:131055236-131055237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130950187..130952825-chr8:131053806..131055641,2	MCF-7	breast:
2	chr8:131045657..131048618-chr8:131053552..131056058,2	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction
ENSG00000253720	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
9	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
10	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	esv1799633	chr8:131039142-131078918	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
13	esv1851852	chr8:131039142-131078918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
14	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
15	nsv612235	chr8:131054236-131061756	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1797811	chr8:131054236-131062502	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131043000-131058200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:131051800-131063800	Weak transcription	Aorta	Aorta
4	chr8:131053200-131055400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:131053200-131055400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr8:131053200-131055600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:131053200-131057800	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:131053800-131055400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:131053800-131055400	Enhancers	Stomach Mucosa	stomach
10	chr8:131053800-131055400	Flanking Active TSS	GM12878-XiMat	blood
11	chr8:131053800-131055600	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:131054000-131055400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:131054000-131055400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:131054000-131055400	Enhancers	Placenta	Placenta
15	chr8:131054000-131055400	Enhancers	NH-A	brain
16	chr8:131054000-131057600	Enhancers	Primary B cells from cord blood	blood
17	chr8:131054200-131055400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr8:131054200-131055400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr8:131054400-131055400	Enhancers	Colonic Mucosa	Colon
20	chr8:131054600-131057800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:131054600-131058200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:131055000-131055400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr8:131055000-131055400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:131055000-131055400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:131055000-131055400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr8:131055000-131055400	Enhancers	HMEC	breast
27	chr8:131055000-131055600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr8:131055000-131055600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:131055000-131057800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:131055000-131057800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:131055000-131057800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:131055000-131057800	Weak transcription	Fetal Heart	heart
33	chr8:131055000-131057800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:131055000-131057800	Weak transcription	Lung	lung
35	chr8:131055000-131057800	Weak transcription	Right Ventricle	heart
36	chr8:131055000-131057800	Weak transcription	Thymus	Thymus
37	chr8:131055000-131058000	Weak transcription	Left Ventricle	heart
38	chr8:131055000-131058800	Weak transcription	Right Atrium	heart
39	chr8:131055000-131059800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:131055000-131060000	Weak transcription	NHLF	lung
41	chr8:131055000-131060400	Weak transcription	HUVEC	blood vessel
42	chr8:131055000-131063800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:131055200-131055400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr8:131055200-131055400	Enhancers	A549	lung
45	chr8:131055200-131055600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:131055200-131055600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:131055200-131055600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:131055200-131055600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:131055200-131055600	Enhancers	Duodenum Mucosa	Duodenum
50	chr8:131055200-131055600	Enhancers	K562	blood

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