Variant report

Variant	rs540619906
Chromosome Location	chr8:131054540-131054541
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130950187..130952825-chr8:131053806..131055641,2	MCF-7	breast:
2	chr8:131027956..131030548-chr8:131051985..131055056,3	K562	blood:
3	chr8:131052756..131054836-chr8:131056637..131059542,2	K562	blood:
4	chr12:11801638..11802342-chr8:131054390..131055145,2	Hela-S3	cervix:
5	chr8:131047199..131051287-chr8:131052494..131054886,3	MCF-7	breast:
6	chr8:131027480..131030548-chr8:131053151..131055145,3	K562	blood:
7	chr8:131045657..131048618-chr8:131053552..131056058,2	K562	blood:
8	chr8:131027337..131029043-chr8:131052659..131055110,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	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:77 , 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	chr8:131052400-131054800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:131053200-131055400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:131053200-131055400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:131053200-131055600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:131053200-131057800	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:131053600-131054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:131053600-131054800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:131053800-131055200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:131053800-131055200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:131053800-131055200	Enhancers	Fetal Thymus	thymus
14	chr8:131053800-131055200	Enhancers	Spleen	Spleen
15	chr8:131053800-131055200	Flanking Active TSS	Hela-S3	cervix
16	chr8:131053800-131055400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:131053800-131055400	Enhancers	Stomach Mucosa	stomach
18	chr8:131053800-131055400	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:131053800-131055600	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:131054000-131054600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr8:131054000-131055000	Enhancers	Lung	lung
22	chr8:131054000-131055200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:131054000-131055200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:131054000-131055200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:131054000-131055200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:131054000-131055200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:131054000-131055200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:131054000-131055200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:131054000-131055200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:131054000-131055200	Enhancers	Brain Anterior Caudate	brain
31	chr8:131054000-131055200	Enhancers	Esophagus	oesophagus
32	chr8:131054000-131055200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:131054000-131055200	Flanking Active TSS	A549	lung
34	chr8:131054000-131055200	Flanking Active TSS	NHEK	skin
35	chr8:131054000-131055400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:131054000-131055400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:131054000-131055400	Enhancers	Placenta	Placenta
38	chr8:131054000-131055400	Enhancers	NH-A	brain
39	chr8:131054000-131057600	Enhancers	Primary B cells from cord blood	blood
40	chr8:131054200-131054600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:131054200-131055000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:131054200-131055200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:131054200-131055200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr8:131054200-131055200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:131054200-131055200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:131054200-131055400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr8:131054200-131055400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:131054400-131054600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:131054400-131054600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr8:131054400-131054600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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