Variant report

Variant	rs561509279
Chromosome Location	chr8:100014585-100014586
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:100009588..100012990-chr8:100013654..100017766,5	K562	blood:
2	chr8:100013186..100018258-chr8:100022769..100026424,8	MCF-7	breast:
3	chr8:100011207..100013044-chr8:100013955..100016177,3	K562	blood:
4	chr8:99956762..99958304-chr8:100013613..100016438,2	K562	blood:
5	chr8:100013073..100014994-chr8:100016917..100018773,2	K562	blood:
6	chr8:99952140..99962153-chr8:100006475..100015090,25	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPS13B-1	chr8:100014060-100015451	NONHSAT127942

No data

Variant related genes	Relation type
ENSG00000271930	Chromatin interaction
ENSG00000132549	Chromatin interaction
ENSG00000253948	Chromatin interaction
ENSG00000104375	Chromatin interaction
ENSG00000263842	Chromatin interaction
ENSG00000164920	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv967620	chr8:100013130-100021334	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99987200-100024200	Weak transcription	Osteobl	bone
2	chr8:100003400-100023400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:100006600-100024000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:100007000-100023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:100007000-100024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:100007200-100016000	Weak transcription	HSMMtube	muscle
7	chr8:100007200-100023000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:100007200-100023600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:100007200-100024000	Weak transcription	Ovary	ovary
10	chr8:100007200-100024400	Weak transcription	Aorta	Aorta
11	chr8:100007400-100014800	Weak transcription	Adipose Nuclei	Adipose
12	chr8:100007400-100015800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:100007800-100018200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:100008200-100018000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:100008600-100021800	Weak transcription	NHDF-Ad	bronchial
16	chr8:100008600-100024000	Weak transcription	NHLF	lung
17	chr8:100008800-100022400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:100012000-100023000	Weak transcription	Liver	Liver
19	chr8:100012000-100023200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:100012200-100023800	Weak transcription	HSMM	muscle
21	chr8:100012400-100023400	Weak transcription	Fetal Lung	lung
22	chr8:100013600-100017200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:100014200-100015200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:100014200-100015200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr8:100014200-100015400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr8:100014200-100015400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:100014200-100015400	Enhancers	Fetal Heart	heart
28	chr8:100014200-100015600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:100014200-100016000	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:100014200-100016200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:100014200-100017400	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:100014200-100023000	Weak transcription	Primary B cells from cord blood	blood
33	chr8:100014400-100014800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:100014400-100015000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:100014400-100015000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr8:100014400-100015000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr8:100014400-100015200	Enhancers	Primary T cells from cord blood	blood
38	chr8:100014400-100015200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:100014400-100015200	Enhancers	Pancreas	Pancrea
40	chr8:100014400-100015200	Flanking Active TSS	GM12878-XiMat	blood
41	chr8:100014400-100015400	Enhancers	Thymus	Thymus
42	chr8:100014400-100015600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:100014400-100024200	Weak transcription	Small Intestine	intestine

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